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1. Remote monitoring of amyotrophic lateral sclerosis using wearable sensors detects differences in disease progression and survival: a prospective cohort studyResearch in context

Author: Jordi W.J. van Unnik, Myrte Meyjes, Mark R. Janse van Mantgem, Leonard H. van den Berg, and Ruben P.A. van Eijk
Subjects: Amyotrophic lateral sclerosis, Biomarkers, Clinical trials, Wearable sensors, Remote monitoring, Medicine, Medicine (General), R5-920
Abstract: Summary: Background: There is an urgent need for objective and sensitive measures to quantify clinical disease progression and gauge the response to treatment in clinical trials for amyotrophic lateral sclerosis (ALS). Here, we evaluate the ability of an accelerometer-derived outcome to detect differential clinical disease progression and assess its longitudinal associations with overall survival in patients with ALS. Methods: Patients with ALS wore an accelerometer on the hip for 3–7 days, every 2–3 months during a multi-year observation period. An accelerometer-derived outcome, the Vertical Movement Index (VMI), was calculated, together with predicted disease progression rates, and jointly analysed with overall survival. The clinical utility of VMI was evaluated using comparisons to patient-reported functionality, while the impact of various monitoring schemes on empirical power was explored through simulations. Findings: In total, 97 patients (70.1% male) wore the accelerometer for 1995 days, for a total of 27,701 h. The VMI was highly discriminatory for predicted disease progression rates, revealing faster rates of decline in patients with a worse predicted prognosis compared to those with a better predicted prognosis (p
Published: 2024
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2. A novel case of refractory hiccups following epidural thoracic spinal cord stimulator implantation for chronic low back pain

Author: Stacy Hatcher, Leonard H. Verhey, Andres Restrepo Orozco, Mohamed Abouelleil, and Hayden M.K. Boyce
Subjects: Spinal cord stimulation, Chronic low back pain, Intractable hiccups, Surgery, RD1-811, Neurology. Diseases of the nervous system, RC346-429
Abstract: Background: Spinal cord stimulation for the treatment of chronic refractory back pain is widely used and is associated with low risk. The onset of chronic debilitating hiccups following SCS implantation has not been previously reported. We describe a novel case of intractable hiccups following the placement of a thoracic epidural paddle electrode for the treatment of chronic back pain, and discuss the underlying pathophysiology of hiccups in association with SCS insertion. Case Description:: We describe a case of a 61-year-old male who presented with refractory chronic low back, coccygeal, and radicular lower extremity pain. A SCS trial provided 60 % improvement in pain, and therefore he underwent implantation of a 2x8 electrode epidural paddle lead spanning the T9 vertebral body. Post-operatively, the patient’s pain was improved, however he experienced new-onset involuntary abdominal spasms and hiccups. He underwent a comprehensive medical work-up, several SCS reprogramming trials, and revision surgeries. Abdominal spasms resolved; however, the hiccups insidiously worsened. At 3.5 years post-implantation, he reports ongoing adequate pain control but continues to experience debilitating, severe hiccups. Conclusions: This case illustrates a unique and unexpected outcome of new-onset intractable hiccups following placement of an epidural thoracic SCS lead. Whether this complication of SCS lead placement is consequent to aberrant stimulation of the hiccup reflex arc or injury to the thoracic spinal cord is not yet clear and may be elucidated by future research.
Published: 2022
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3. Remote monitoring of amyotrophic lateral sclerosis using wearable sensors detects differences in disease progression and survival: a prospective cohort study

Author: Projectafdeling ALS, ALS Onderzoeksbureau, Opleiding Neurologie, Neurologen, Brain, Datamanagement Team 1, van Unnik, Jordi W.J., Meyjes, Myrte, Janse van Mantgem, Mark R., van den Berg, Leonard H., van Eijk, Ruben P.A., Projectafdeling ALS, ALS Onderzoeksbureau, Opleiding Neurologie, Neurologen, Brain, Datamanagement Team 1, van Unnik, Jordi W.J., Meyjes, Myrte, Janse van Mantgem, Mark R., van den Berg, Leonard H., and van Eijk, Ruben P.A.
Published: 2024

4. Heparin-induced bullous hemorrhagic dermatosis: A report of 3 cases

Author: Madeline R. Frizzell, MS, Nhan M. Nguyen, MD, MS, Leonard H. Goldberg, MD, Sonal A. Parikh, MD, and Maya J. Sinai, MD
Subjects: bullous, dermatosis, hemorrhagic, heparin, papules, warfarin, Dermatology, RL1-803
Published: 2020
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5. Cortical and subcortical changes in resting-state neuronal activity and connectivity in early symptomatic ALS and advanced frontotemporal dementia

Author: Rosanne Govaarts, Emma Beeldman, Matteo Fraschini, Alessandra Griffa, Marjolein M.A. Engels, Michael A. van Es, Jan H. Veldink, Leonard H. van den Berg, Anneke J. van der Kooi, Yolande A.L. Pijnenburg, Marianne de Visser, Cornelis J. Stam, Joost Raaphorst, and Arjan Hillebrand
Subjects: Amyotrophic lateral sclerosis, Behavioural variant frontotemporal dementia, Magnetoencephalography, Resting-state, Oscillatory brain activity, Functional connectivity, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429
Abstract: The objective of this study was to examine if patterns of resting-state brain activity and functional connectivity in cortical and subcortical regions in patients with early symptomatic amyotrophic lateral sclerosis (ALS) resemble those of behavioural variant frontotemporal dementia (bvFTD). In a cross-sectional design, eyes-closed resting-state magnetoencephalography (MEG) data of 34 ALS patients, 18 bvFTD patients and 18 age- and gender-matched healthy controls (HCs) were projected to source-space using an atlas-based beamformer. Group differences in peak frequency, band-specific oscillatory activity and functional connectivity (corrected amplitude envelope correlation) in 78 cortical regions and 12 subcortical regions were determined. False discovery rate was used to correct for multiple comparisons. BvFTD patients, as compared to ALS and HCs, showed lower relative beta power in parietal, occipital, temporal and nearly all subcortical regions. Compared to HCs, patients with ALS and patients with bvFTD had a higher delta (0.5–4 Hz) and gamma (30–48 Hz) band resting-state functional connectivity in a high number of overlapping regions in the frontal lobe and in limbic and subcortical regions. Higher delta band connectivity was widespread in the bvFTD patients compared to HCs. ALS showed a more widespread higher gamma band functional connectivity compared to bvFTD. In conclusion, MEG in early symptomatic ALS patients shows resting-state functional connectivity changes in frontal, limbic and subcortical regions that overlap considerably with bvFTD. The findings show the potential of MEG to detect brain changes in early symptomatic phases of ALS and contribute to our understanding of the disease spectrum, with ALS and bvFTD at the two extreme ends.
Published: 2022
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6. A case report of alopecia totalis associated with permanent hair dye use

Author: Leila K. Asadi, Leonard H. Goldberg, MD, and Ming H. Jih, MD, PhD
Subjects: alopecia areata, hair dye, contact hypersensitivity, cyclosporine, sulfasalazine, Dermatology, RL1-803
Published: 2020
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7. Endovascular treatment of a basilar tip aneurysm via a persistent primitive proatlantal intersegmental artery

Author: Theresa A. Elder, MD, Leonard H. Verhey, MD, PhD, Devin B. Simon, MD, Eleanor C. Smith, BS, and Joseph G. Adel, MD
Subjects: Surgery, RD1-811, Neurology. Diseases of the nervous system, RC346-429
Abstract: Background: A proatlantal intersegmental artery is an anastomosis between the carotid and vertebrobasilar arterial systems that exists in the developing fetus to temporarily maintain the posterior cerebral circulation. Failure of this artery to obliterate once the vertebral arteries are developed results in a persistent primitive proatlantal intersegmental artery (PPPIA). We present a patient with a basilar tip aneurysm that was exclusively supplied by a PPPIA, serving as the only corridor to accessing the aneurysm endovascularly. We report the first case of an elective endovascular stent-assisted coiling of a basilar tip aneurysm via a PPPIA and review this rare anatomic variant in a clinical setting. Case report: The patient is a 60-year-old Caucasian male who presented with recurrent headaches and blurry vision after sustaining mild head trauma. Imaging revealed a basilar tip aneurysm, and the patient elected for endovascular treatment. He was furthermore found to have an anatomic variant of a proatlantal artery in the context of bilateral vertebral artery hypoplasia, thus his posterior circulation was entirely supplied by the fetal remnant vessel. The patient underwent a successful stent-assisted coil embolization of the aneurysm. Conclusion: PPPIA is a rare vascular anomaly that may be associated with intracranial vascular pathology. Awareness and intricate understanding of the anatomy of embryologic remnants such as the PPPIA is central to planning neuro-interventional access and avoiding complications. Keywords: Aneurysm, Basilar tip, Congenital, Proatlantal, Endovascular, Stent-assisted coiling
Published: 2019
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8. The social context moderates the relationship between neighborhood safety and adolescents' activities

Author: Sarah-Jeanne Salvy, Denise M. Feda, Leonard H. Epstein, and James N. Roemmich
Subjects: Medicine
Abstract: Studies of neighborhood safety and physical activity have typically neglected to consider the youth's peer context as a modifier of these relationships. This study fills this gap in testing the independent and interactive effects of perceived neighborhood safety and time spent with friends and peers on young adolescents' physical activity and sedentary behavior. Participants (N = 80; ages 13–17) completed the Pedestrian/Traffic Safety and Crime Safety subscales of the adolescent version of the Neighborhood Environment Walkability Scale (NEWS). An experience sampling methodology was used to assess sedentary behaviors/screen time and the social context in which physical activity and sedentary time/behavior occurred. Physical activity was assessed via accelerometry. Multilevel models were used to estimate the relationships between predictors (neighborhood safety and social context) and outcomes (physical activity and sedentary time/behavior). Frequency of peer/friend interactions moderated the relationships between neighborhood safety and adolescents' physical activity and sedentary behavior. Specifically, physical activity was more strongly influenced by neighborhood safety among adolescents who reported spending less time with peers and friends than among those who reported frequent peer interactions. Among youths who perceived that their neighborhoods were safer, spending more time with friends and peers was related to greater engagement in sedentary activities, whereas this was not the case among adolescents who perceived that their neighborhoods were less safe. The peer social context moderates the relationship between perceived neighborhood safety and adolescents' physical activity and sedentary behavior. Improving social interactions at the individual level within neighborhoods may decrease concerns of safety.
Published: 2017
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9. Deep learning predictions of survival based on MRI in amyotrophic lateral sclerosis

Author: Hannelore K. van der Burgh, Ruben Schmidt, Henk-Jan Westeneng, Marcel A. de Reus, Leonard H. van den Berg, and Martijn P. van den Heuvel
Subjects: Deep learning, Neural network, Amyotrophic lateral sclerosis, White matter connectivity, Survival, Prediction, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease, with large variation in survival between patients. Currently, it remains rather difficult to predict survival based on clinical parameters alone. Here, we set out to use clinical characteristics in combination with MRI data to predict survival of ALS patients using deep learning, a machine learning technique highly effective in a broad range of big-data analyses. A group of 135 ALS patients was included from whom high-resolution diffusion-weighted and T1-weighted images were acquired at the first visit to the outpatient clinic. Next, each of the patients was monitored carefully and survival time to death was recorded. Patients were labeled as short, medium or long survivors, based on their recorded time to death as measured from the time of disease onset. In the deep learning procedure, the total group of 135 patients was split into a training set for deep learning (n = 83 patients), a validation set (n = 20) and an independent evaluation set (n = 32) to evaluate the performance of the obtained deep learning networks. Deep learning based on clinical characteristics predicted survival category correctly in 68.8% of the cases. Deep learning based on MRI predicted 62.5% correctly using structural connectivity and 62.5% using brain morphology data. Notably, when we combined the three sources of information, deep learning prediction accuracy increased to 84.4%. Taken together, our findings show the added value of MRI with respect to predicting survival in ALS, demonstrating the advantage of deep learning in disease prognostication.
Published: 2017
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10. Histiocyte-rich rhabdomyoblastic tumor of the trunk

Author: Madeline R. Frizzell, MS, Nhan M. Nguyen, MD, MS, Sonal A. Parikh, MD, Maya J. Sinai, MD, Howard L. Martin, MD, and Leonard H. Goldberg, MD
Subjects: malignant, rhabdomyoblastic, rhabdomyoma, rhabdomyosarcoma, tumor, Dermatology, RL1-803
Published: 2020
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11. Feasibility and tolerability of multimodal peripheral electrophysiological techniques in a cohort of patients with spinal muscular atrophy

Author: Projectafdeling SvS, Projectafdeling ALS, Brain, Neurologen, Verpleegkundig Specialisten, Regenerative Medicine and Stem Cells, Ros, Leandra A.A., Sleutjes, Boudewijn T.H.M., Stikvoort García, Diederik J.L., Goedee, H. Stephan, Asselman, Fay Lynn, van den Berg, Leonard H., van der Pol, W. Ludo, Wadman, Renske I., Projectafdeling SvS, Projectafdeling ALS, Brain, Neurologen, Verpleegkundig Specialisten, Regenerative Medicine and Stem Cells, Ros, Leandra A.A., Sleutjes, Boudewijn T.H.M., Stikvoort García, Diederik J.L., Goedee, H. Stephan, Asselman, Fay Lynn, van den Berg, Leonard H., van der Pol, W. Ludo, and Wadman, Renske I.
Published: 2023

12. Multifocal motor neuropathy is not associated with altered innate immune responses to endotoxin

Author: Opleiding Neurologie, CTI Budding, Infection & Immunity, CTI Bont, Neurologen, CTI Research, MS Dermatologie/Allergologie, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, Bos, Jeroen W, Groen, Ewout J N, Budding, Kevin, Delemarre, Eveline M, Goedee, H Stephan, Knol, Edward F, van den Berg, Leonard H, van der Pol, W Ludo, Opleiding Neurologie, CTI Budding, Infection & Immunity, CTI Bont, Neurologen, CTI Research, MS Dermatologie/Allergologie, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, Bos, Jeroen W, Groen, Ewout J N, Budding, Kevin, Delemarre, Eveline M, Goedee, H Stephan, Knol, Edward F, van den Berg, Leonard H, and van der Pol, W Ludo
Published: 2023

13. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Author: Neurogenetica, Brain, Neurologen, Neuromuscular Disorders, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S.Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M., van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A., Neurogenetica, Brain, Neurologen, Neuromuscular Disorders, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S.Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M., van den Berg, Leonard H., Veldink, Jan H., and van Es, Michael A.
Published: 2023

14. Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease

Author: Hannelore K. van der Burgh, Henk-Jan Westeneng, Jil M. Meier, Michael A. van Es, Jan H. Veldink, Jeroen Hendrikse, Martijn P. van den Heuvel, and Leonard H. van den Berg
Subjects: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429
Abstract: Background: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease characterized by both upper and lower motor neuron degeneration. While neuroimaging studies of the brain can detect upper motor neuron degeneration, these brain MRI scans also include the upper part of the cervical spinal cord, which offers the possibility to expand the focus also towards lower motor neuron degeneration. Here, we set out to investigate cross-sectional and longitudinal disease effects in the upper cervical spinal cord in patients with ALS, progressive muscular atrophy (PMA: primarily lower motor neuron involvement) and primary lateral sclerosis (PLS: primarily upper motor neuron involvement), and their relation to disease severity and grey and white matter brain measurements. Methods: We enrolled 108 ALS patients without C9orf72 repeat expansion (ALS C9–), 26 ALS patients with C9orf72 repeat expansion (ALS C9+), 28 PLS patients, 56 PMA patients and 114 controls. During up to five visits, longitudinal T1-weighted brain MRI data were acquired and used to segment the upper cervical spinal cord (UCSC, up to C3) and individual cervical segments (C1 to C4) to calculate cross-sectional areas (CSA). Using linear (mixed-effects) models, the CSA differences were assessed between groups and correlated with disease severity. Furthermore, a relationship between CSA and brain measurements was examined in terms of cortical thickness of the precentral gyrus and white matter integrity of the corticospinal tract. Results: Compared to controls, CSAs at baseline showed significantly thinner UCSC in all groups in the MND spectrum. Over time, ALS C9– patients demonstrated significant thinning of the UCSC and, more specifically, of segment C3 compared to controls. Progressive thinning over time was also observed in C1 of PMA patients, while ALS C9+ and PLS patients did not show any longitudinal changes. Longitudinal spinal cord measurements showed a significant relationship with disease severity and we found a significant correlation between spinal cord and motor cortex thickness or corticospinal tract integrity for PLS and PMA, but not for ALS patients. Discussion: Our findings demonstrate atrophy of the upper cervical spinal cord in the motor neuron disease spectrum, which was progressive over time for all but PLS patients. Cervical spinal cord imaging in ALS seems to capture different disease effects than brain neuroimaging. Atrophy of the cervical spinal cord is therefore a promising additional biomarker for both diagnosis and disease progression and could help in the monitoring of treatment effects in future clinical trials. Keywords: Amyotrophic lateral sclerosis, Spinal cord, Magnetic resonance imaging, Cross-sectional area, Neuroimaging, Longitudinal
Published: 2019
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15. Deficits in executive function and suppression of default mode network in obesity

Author: Sabrina K. Syan, Max M. Owens, Ben Goodman, Leonard H. Epstein, David Meyre, Lawrence H. Sweet, and James MacKillop
Subjects: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429
Abstract: Background: Although nutritional and metabolic factors are well established in obesity, neurocognitive determinants are less understood. Using data from the Human Connectome Project, this study concurrently investigated neurocognitive performance, neural activation during a working memory task, and cortical brain morphometry in relation to obesity in a group of young adults, 22–35 years old. Methods: Using a case-control design, obese individuals (n = 243, body mass index [BMI] ≥ 30 kg/m2) were compared to a control group of lean BMI individuals (n = 469, BMI = 18–24.9 kg/m2). Performance tests comprised a battery of behavioral neurocognitive assessments. Neural activity was measured as blood-oxygenation-level-dependent (BOLD) activity during an N-Back task using functional magnetic resonance imaging (fMRI). Cortical morphometry included indices of volume, thickness, and surface area. Results: Relative to the control group, the obese group exhibited significantly worse performance in terms of the National Institutes of Health Toolkit (NIH) 9-Hole Peg Board, Penn Working Memory Test, Delay Discounting, Penn Progressive Matrices, NIH Picture Vocabulary Test, Dimensional Change Card Sort Test and the in-scanner N-Back working memory test (FDR-corrected ps
Published: 2019
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16. Magnetic resonance imaging of the cervical spinal cord in spinal muscular atrophy

Author: Marloes Stam, Wieke Haakma, Lidy Kuster, Martijn Froeling, Marielle E.P. Philippens, Clemens Bos, Alexander Leemans, Louise A.M. Otto, Leonard H. van den Berg, Jeroen Hendrikse, and W. Ludo van der Pol
Subjects: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429
Abstract: Objective: In this study we investigated the potential value of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) in characterizing changes in the cervical spinal cord and peripheral nerve roots in vivo in patients with spinal muscular atrophy (SMA). Methods: We developed an MRI protocol with 4 sequences to investigate the cervical spinal cord and nerve roots on a 3 Tesla MRI system. We used 2 anatomical MRI sequences to investigate cross-sectional area (CSA) at each spinal segment and the diameter of ventral and dorsal nerve roots, and two diffusion tensor imaging (DTI) techniques to estimate the fractional anisotropy (FA), mean (MD), axial (AD) and radial diffusivity (RD) in 10 SMA patients and 20 healthy controls. Results: There were no significant differences in CSA (p > .1), although an 8.5% reduction of CSA in patients compared to healthy controls was apparent at segment C7. DTI data showed a higher AD in grey matter of patients compared to healthy controls (p = .033). Significantly lower MD, AD and RD values were found in rostral nerve roots (C3-C5) in patients (p
Published: 2019
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17. Becker nevus

Author: Loosemore, Michael P., primary, Morales-Burgos, Adisbeth, additional, Firoz, Elnaz F., additional, Firoz, Bahar F., additional, and Goldberg, Leonard H., additional
Published: 2018
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18. List of Contributors

Author: Abdullah, Anthony, primary, Abrouk, Michael, additional, Ahad, Tashmeeta, additional, Ahmed, Imtiaz, additional, Al Hammadi, Anwar, additional, Allen, Caroline, additional, Almohssen, Amer Ali, additional, Alwan, Wisam, additional, Ameen, Mahreen, additional, Amini, Sadegh, additional, Anderson, Bryan E., additional, Anhalt, Grant J., additional, Baker, Donald J., additional, Bala, Harini Rajgopal, additional, Baltz, Julia, additional, Banach, David, additional, Banfield, Cedric C., additional, Baran, Robert, additional, Bardhan, Ajoy, additional, Barkham, Melissa C., additional, Bello, Ysabel M., additional, Benton, Emma, additional, Bergfeld, Wilma F., additional, Berkowitz, Eric, additional, Berman, Brian, additional, Bernhard, Jeffrey D., additional, Bernstein, Daniel, additional, Berth-Jones, John, additional, Bhate, Chinmoy, additional, Bhatia, Bhavnit K., additional, Blume, Jonathan E., additional, Bordet, Nevianna, additional, Borysiewicz, Catherine, additional, Brauner, Gary J., additional, Brodell, Robert T., additional, Brown, Marc D., additional, Burd, Robert M., additional, Burdick, Anne E., additional, Butala, Niraj, additional, Callen, Jeffrey P., additional, Camacho, Ivan D., additional, Camasmie, Helena, additional, Caplivski, Daniel, additional, Cappell, Mitchell S., additional, Casey, Genevieve A., additional, Chan, Lawrence S., additional, Chan, Loi-Yuen, additional, Chen, Jennifer K., additional, Chen, Chen “Mary”, additional, Chiang, Nicole Yi Zhen, additional, Chiaravalloti, Anthony J., additional, Child, Fiona J., additional, Chu, Anthony C., additional, Clayton, Timothy H., additional, Cohen, Steven R., additional, Cooper, Elizabeth A., additional, Cooper, Susan M., additional, Collier, Nick, additional, Correnti, Christina M., additional, Coulson, Ian H., additional, Council, M. Laurin, additional, Cowper, Shawn E., additional, Craven, Nicholas M., additional, Creamer, Daniel, additional, Cruz, Ponciano D., additional, Cusack, Carrie Ann R., additional, Daunton, Adam, additional, Davis, Mark D.P., additional, Dawe, Robert S., additional, D’Cruz, David P., additional, de Berker, David, additional, DeHoratius, Danielle M., additional, Deng, Min, additional, Desai, Seemal R., additional, Devlin, Georgina, additional, DiGiovanna, John J., additional, Doctoroff, Alexander, additional, Dodiuk-Gad, Roni P., additional, Eichenfield, Dawn Z., additional, Eichenfield, Lawrence F., additional, Eisen, Drore, additional, Eke, Ure, additional, Elston, Dirk M., additional, Emanuel, Patrick O.M., additional, Enos, Clinton W., additional, Ensanyat, Shaheen H., additional, Falabella, Anna F., additional, Farberg, Aaron S., additional, Feigenbaum, Lawrence S., additional, Fernandez, Kristen Heins, additional, Fett, Nicole, additional, Finlay, Andrew Y., additional, Firoz, Bahar F., additional, Firoz, Elnaz F., additional, Fitzpatrick, James E., additional, Flischel, Amy E., additional, Foley, Kelly A., additional, Freedman, Derek, additional, Fremlin, Georgina A., additional, Fried, Richard, additional, Friedlander, Philip, additional, Friedman, Adam, additional, Forrestel, Amy K., additional, Fuchs, Brian S., additional, Gach, Joanna E., additional, Galan, Anjela, additional, Ganesh, Jaya, additional, Garg, Amit, additional, Geller, Lauren, additional, Gelmetti, Carlo M., additional, Ghazi, Elizabeth, additional, Ghunawat, Sneha, additional, Goldberg, Leonard H., additional, Goodfield, Mark J.D., additional, Gordon, Marsha L., additional, Gowda, Asha, additional, Grabell, Daniel A., additional, Grant, Matthew, additional, Grattan, Clive E.H., additional, Greaves, Malcolm W., additional, Green, Justin J., additional, Griffiths, Christopher E.M., additional, Gropper, Charles A., additional, Grossberg, Anna L., additional, Gupta, Aditya K., additional, Hadi, Ali S., additional, Hadi, Suhail M., additional, Hagans, Iris A., additional, Hairston, Bethany R., additional, Halpern, Analisa Vincent, additional, Halverstam, Caroline, additional, Harper, Natasha, additional, Harries, Matthew J., additional, Harris, John, additional, Harrison, Shannon, additional, Hatch, Michael M., additional, Heagerty, Adrian H.M., additional, Hebert, Adelaide A., additional, Helms, Stephen E., additional, Hexsel, Camile L., additional, Hexsel, Doris M., additional, Heymann, Warren R., additional, Higgins, Elisabeth M., additional, Higgins, Claire L., additional, High, Whitney A., additional, Hönigsmann, Herbert, additional, Horenstein, Marcelo G., additional, Hruza, George J., additional, Hui, Andrea, additional, Huo, Ran, additional, Ibbotson, Sally H., additional, Ibrahim, Sherrif F., additional, Ilchyshyn, Andrew, additional, Ismail, Dina, additional, Jablonska, Stefania, additional, Jacobe, Heidi T., additional, James, William D., additional, Javed, Aysha, additional, Jemec, Gregor B.E., additional, Johnston, Graham A., additional, Jones, Stephen K., additional, Junkins-Hopkins, Jacqueline M., additional, Kaffenberger, Jessica, additional, Kane, Kelly R., additional, Kanelleas, Antonios, additional, Karadağ, Ayşe Serap, additional, Karas, Laura, additional, Katugampola, Ruwani P., additional, Katz, Bruce E., additional, Kellen, Roselyn, additional, Khan, Murtaza, additional, Khorasani, Hooman, additional, Kim, Ellen J., additional, Kim, Hee J., additional, Kirby, Brian, additional, Kirby, Joslyn S., additional, Klein, Rachel S., additional, Kleydman, Kate, additional, Koch, Dimitra, additional, Kohorst, John J., additional, Koo, John Y.M., additional, Kopp, Sandra A., additional, Korman, Neil J., additional, Kovarik, Carrie, additional, Kraemer, Kenneth H., additional, Krafchik, Bernice R., additional, Krishnamurthy, Karthik, additional, Kvernebo, Knut, additional, Lam, Charlene, additional, Lambert, Peter C., additional, Langtry, James A.A., additional, Larian, Amir A., additional, Larocca, Cecilia A., additional, Lawlor, E. Frances, additional, Lawrence, Clifford M., additional, Lebwohl, Mark G., additional, Lebwohl, Oscar, additional, Lehman, Julia S., additional, Leslie, Tabi A., additional, Lessin, Stuart R., additional, Levitt, Jacob O., additional, Lewis, Fiona M., additional, Liaqat, Maryam, additional, Liu, Kristina J., additional, Loosemore, Michael P., additional, Luger, Thomas A., additional, Lupi, Omar, additional, Lushniak, Boris D., additional, Lyon, Calum C., additional, Maderal, Andrea D., additional, Mahmoud, Bassel H., additional, Majewski, Slawomir, additional, Mallett, Richard B., additional, Manders, Steven M., additional, Mann, Ranon, additional, Mansouri, Yasaman, additional, Margolis, David J., additional, Markowitz, Orit, additional, Marsland, Alexander, additional, Martin-Clavijo, Agustin, additional, Martinez, Daniela, additional, Matiz, Catalina, additional, Maurer, Marcus, additional, McKerrow, Kevin, additional, Meah, Nekma, additional, Micali, Giuseppe, additional, Micheletti, Robert G., additional, Millard, Leslie G., additional, Miller, James E., additional, Wong Millsop, Jillian W., additional, Mimouni, Daniel, additional, Mirowski, Ginat W., additional, Mirza, Sultan A., additional, Molin, Sonja, additional, Morales-Burgos, Adisbeth, additional, Morison, Warwick L., additional, Mørk, Cato, additional, Morton, Colin A., additional, Motley, Richard J., additional, Mowbray, Megan, additional, Muldoon, Eavan G., additional, Muncaster, Anna E., additional, Murakawa, George J., additional, Murase, Jenny E., additional, Murdoch, Michele E., additional, Nabatian, Adam S., additional, Nakamura, Mio, additional, Nalluri, Rajani, additional, Nawas, Zeena Y., additional, Needham, Glen R., additional, Newell, Glenn C., additional, Newton-Bishop, Julia, additional, Nguyen, Adam V., additional, Nixon, Rosemary L., additional, O’Brien, Jack C., additional, Ogden, Stephanie, additional, Olbricht, Suzanne M., additional, O’Shea, Sally Jane, additional, Owen, Cindy E., additional, Pan, Michael, additional, Pappas-Taffer, Lisa, additional, Parish, Jennifer L., additional, Parish, Lawrence Charles, additional, Payette, Michael, additional, Peck, Gary L., additional, Pena, Sandra, additional, Peranteau, Jarad, additional, Pereira, Frederick A., additional, Perkins, William, additional, Perlis, Clifford S., additional, Phelps, Robert G., additional, Phillips, Tania J., additional, Poh-Fitzpatrick, Maureen B., additional, Pomeranz, Miriam Keltz, additional, Pop, Samantha R., additional, Porcu, Pierluigi, additional, Powell, James B., additional, Prok, Lori D., additional, Pyle, Tia M., additional, Qazaz, Surod, additional, Rajkomar, Vikram, additional, Rashid, Rabia S., additional, Rashighi, Mehdi, additional, Ratnavel, Ravi, additional, Regula, Christie G., additional, Renzi, Michael, additional, Revuz, Jean, additional, Reynolds, Rachel V., additional, Richard, Elisabeth, additional, Richard, Gabriele, additional, Rigel, Darrell S., additional, Robles, Wanda Sonia, additional, Rogge, Megan, additional, Rook, Alain H., additional, Manning, Jamie R., additional, Rosen, Ted, additional, Rosenbach, Misha, additional, Rosenfeld, David, additional, Rowland Payne, Christopher, additional, Rubin, Adam I., additional, Rubin, Courtney, additional, Rustin, Malcolm H.A., additional, Ruzicka, Thomas, additional, Samimi, Sara, additional, Schachner, Lawrence A., additional, Scheinfeld, Noah, additional, Schlosser, Bethanee J., additional, Schnur, Rhonda E., additional, Schwartz, Robert A., additional, Scorer, Matthew J., additional, Selkin, Bryan A., additional, Seymour, Jamie, additional, Shaver, Christine M., additional, Shea, Christopher R., additional, Shear, Neil H., additional, Shim, Tang Ngee, additional, Shimizu, Hiroshi, additional, Siegel, Julia, additional, Singer, Elisha, additional, Skelsey, Maral Kibarian, additional, Sladden, Chris, additional, Sladden, Michael, additional, Smith, Janellen, additional, Smucker, Joanne E., additional, Somani, Najwa, additional, Sommer, Lacy L., additional, Sommerlad, Mary, additional, Soon, Christine, additional, Sopkovich, Jennifer A., additional, Soter, Nicholas A., additional, Spencer, James M., additional, Staughton, Richard C.D., additional, Sterling, Jane C., additional, Sunderkötter, Cord, additional, Taibjee, Saleem M., additional, Tamura, Deborah, additional, Tan, Eunice, additional, Tang, William Y-M., additional, Taylor, Lynsey, additional, Thiers, Bruce H., additional, Thomas, Lucy J., additional, Thornton, Cody R., additional, Tobin, Anne-Marie, additional, Torgerson, Rochelle R., additional, Tosti, Antonella, additional, Tsatsou, Fragkiski, additional, Tsuji-Abe, Yukiko, additional, Tucker, William F.G., additional, Tyring, Stephen K., additional, Udkoff, Jeremy, additional, Unger, Robin H., additional, Unger, Walter P., additional, Utz, Sarah, additional, Valbuena, Martha C., additional, van de Kerkhof, Peter, additional, Van Voorhees, Abby S., additional, Vangipuram, Ramya, additional, Veitch, David, additional, Venning, Vanessa, additional, Versteeg, Sarah G., additional, Viera, Martha, additional, Vittorio, Carmela C., additional, Vleugels, Ruth Ann, additional, Wali, Gorav N., additional, Wallengren, Joanna, additional, Wan, Joy, additional, Wanat, Karolyn A., additional, Weichert, Gabriele, additional, Weidmann, Anja K., additional, Weinberg, Jeffrey M., additional, Werth, Victoria P., additional, White, Lucile E., additional, Wiener, Adam H., additional, Wilkin, Jonathan K., additional, Wilkin, Nathaniel K., additional, Williams, Jason, additional, Wilson, Niall, additional, Wiss, Karen, additional, Witkowski, Joseph A., additional, Wiznia, Lauren E., additional, Wong, Henry K., additional, Wong, Junie Li Chun, additional, Wright, Andrew L., additional, Wriston, Cooper C., additional, Wu, Benedict C., additional, Wulkan, Adam, additional, Zaenglein, Andrea L., additional, Zaki, Irshad, additional, Zeichner, Joshua A., additional, Zhu, Tian Hao, additional, Zone, John J., additional, Zouboulis, Christos C., additional, and Zuberbeir, Torstein, additional
Published: 2018
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19. Role of Natural Autoantibodies in Ugandans With Rheumatic Heart Disease and HIV

Author: Daniel M. Huck, Emmy Okello, Grace Mirembe, Isaac Ssinabulya, David A. Zidar, Gregg J. Silverman, Lelise Getu, Amy S. Nowacki, Leonard H. Calabrese, Robert A. Salata, and Chris T. Longenecker
Subjects: Medicine, Medicine (General), R5-920
Abstract: Background: Rheumatic heart disease (RHD) and HIV are prevalent diseases in sub-Saharan Africa, but little is known about their potential interrelationships. The objective of this study was to assess the prevalence of protective natural autoantibodies among patients with RHD in Uganda, and to determine whether the levels of these autoantibodies are affected by HIV status. Methods: Participants were grouped according to RHD and HIV status. The three control groups (RHD−HIV−, RHD−HIV+, RHD+HIV−) were age-matched to the RHD+HIV+ participants. All participants underwent HIV testing and echocardiography to evaluate for RHD. Natural autoantibody levels reactive with phosphorylcholine (PC) and malondialdehyde (MDA) were measured. Findings: We enrolled 220 participants; 21 with both RHD and HIV. Ages ranged from 10 to 60 years, with female predominance (144/220, 65%). After adjusting for age and gender, HIV infection and RHD were each associated with low IgM anti-PC (HIV: p
Published: 2016
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20. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Author: Gijs H.P. Tazelaar, Paul J. Hop, Meinie Seelen, Joke J.F.A. van Vugt, Wouter van Rheenen, Lindy Kool, Kristel R. van Eijk, Marleen Gijzen, Dennis Dooijes, Matthieu Moisse, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Angelica Nordin, Jesus S. Mora Pardina, John Ravits, Ammar Al-Chalabi, Adriano Chio, Russell L. McLaughlin, Orla Hardiman, Philip Van Damme, Mamede de Carvalho, Christoph Neuwirth, Markus Weber, Peter M Andersen, Leonard H. van den Berg, Jan H. Veldink, Michael A. van Es, and Repositório da Universidade de Lisboa
Subjects: Genetic modifiers, Aging, Geriatrics & Gerontology, Neurologi, GALACTOCEREBROSIDE, REPEAT, AGE, Repeat expansions, RISK, Science & Technology, General Neuroscience, Amyotrophic Lateral Sclerosis, Post-zygotic mutations, MULTISTEP PROCESS, Neurosciences, EXPANSIONS, Neurology, DE-NOVO MUTATIONS, PATTERNS, Neurology (clinical), Neurosciences & Neurology, Geriatrics and Gerontology, ALS, Life Sciences & Biomedicine, Neurovetenskaper, Developmental Biology
Abstract: © 2022 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license., Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases also by cognitive and/or behavioral changes. Mendelian forms of ALS comprise approximately 10-15% of cases. The majority is however considered sporadic, but also with a high contribution of genetic risk factors. To explore the contribution of somatic mutations and/or epigenetic changes to disease risk, we performed whole genome sequencing and methylation analyses using samples from multiple tissues on a cohort of 26 monozygotic twins discordant for ALS, followed by in-depth validation and replication experiments. The results of these analyses implicate several mechanisms in ALS pathophysiology, which include a role for de novo mutations, defects in DNA damage repair and accelerated aging., This study was funded by the Thierry Latran Foundation and the Dutch ALS foundation. Project MinE Belgium was supported by a grant from IWT (n° 140935), the ALS Liga België, the National Lottery of Belgium and the KU Leuven Opening the Future Fund. M.A.v.E. is additionally supported by the Rudolf Magnus Brain Center Talent Fellowship. P.V.D. holds a senior clinical investigatorship of FWO-Vlaanderen and is supported by the E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders, the ALS Liga België and the KU Leuven funds “Een Hart voor ALS,” “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund.” Several authors of this publication are member of the European Reference Network for Rare Neuromuscular Diseases (ERN-NMD). A.A.-C. receives salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit and Biomedical Research Centre in Mental Health at South London and Maudsley NHS Foundation Trust and King's College London. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. O.H. is funded by the Health Research Board Clinician Scientist Programme and Science Foundation Ireland. R.L.M is also supported by the Thierry Latran Foundation (ALSIBD) and the ALS Association (2284). The Swedish Brain Foundation (grants nr. 2012-0262, 2012-0305, 2013-0279, 2016-0303), the Swedish Science Council (grants nr 2012-3167, 2017-03100), the Knut and Alice Wallenberg Foundation (grants nr. 2012.0091, 2014.0305), the Bertil Hållsten Foundation, the Ulla-Carin Lindquist Foundation, the Neuroförbundet Association, the Torsten and Ragnar Söderberg Foundation, Umeå University Insamlingsstiftelsen (223-2808-12, 223-1881-13, 2.1.12-1605-14), Västerbotten County Council, Swedish Brain Power, King Gustaf V:s and Queen Victoria's Freemason's Foundation.
Published: 2023

21. Frequency of euthanasia, factors associated with end-of-life practices, and quality of end-of-life care in patients with amyotrophic lateral sclerosis in the Netherlands: a population-based cohort study

Author: van Eenennaam, Remko M, Kruithof, Willeke, Beelen, Anita, Bakker, Leonhard A, van Eijk, Ruben P A, Maessen, Maud, Baardman, Joost F, Visser-Meily, Johanna M A, Veldink, Jan H, and van den Berg, Leonard H
Subjects: 360 Soziale Probleme, Sozialdienste, 610 Medizin und Gesundheit
Abstract: BACKGROUND Amyotrophic lateral sclerosis is a progressive and lethal neurodegenerative disease that is at the forefront of debates on regulation of assisted dying. Since 2002, when euthanasia was legally regulated in the Netherlands, the frequency of this end-of-life practice has increased substantially from 1·7% of all deaths in 1990 and 2005 to 4·5% in 2015. We aimed to investigate whether the frequency of euthanasia in patients with amyotrophic lateral sclerosis had similarly increased since 2002, and to assess the factors associated with end-of-life practices and the quality of end-of-life care in patients with this disease. METHODS Using data from the Netherlands ALS registry, we did a population-based cohort study of clinicians and informal caregivers of patients with amyotrophic lateral sclerosis to assess factors associated with end-of-life decision making and the quality of end-of-life care. We included individuals who were diagnosed with amyotrophic lateral sclerosis according to the revised El-Escorial criteria, and who died between Jan 1, 2014, and Dec 31, 2016. We calculated the frequency of euthanasia in patients with amyotrophic lateral sclerosis from reports made to euthanasia review committees (ERCs) between 2012 and 2020. Results were compared with clinic-based survey studies conducted in 1994-2005. End-of-life practices were end-of-life decisions by a clinician when hastening of death was considered as the potential, probable, or definite effect comprising euthanasia, physician-assisted suicide, ending of life without explicit request, forgoing life-prolonging treatment, and intensified alleviation of symptoms. FINDINGS Between Jan 1, 2012, and Dec 31, 2020, 4130 reports of death from amyotrophic lateral sclerosis were made to ERCs, of which 1014 were from euthanasia or physician-assisted suicide (mean frequency 25% [SD 3] per year). Sex and gender data were unavailable from the ERC registry. Of 884 patients with amyotrophic lateral sclerosis who died between Jan 1, 2014, and Dec 31, 2016, their treating clinician was identified for 731 and a caregiver was identified for 741, of whom 356 (49%) and 450 (61%), respectively, agreed to participate in the population-based survey study. According to clinicians, end-of-life practices were chosen by 280 (79%) of 356 patients with amyotrophic lateral sclerosis who died. The frequency of euthanasia in patients with amyotrophic lateral sclerosis in 2014-16 (141 [40%] of 356 deaths in patients with amyotrophic lateral sclerosis) was higher than in 1994-98 (35 [17%] of 203) and 2000-05 (33 [16%] of 209). Median survival of patients with amyotrophic lateral sclerosis from diagnosis was 15·9 months (95% CI 12·6-17·6) for those who chose euthanasia and 16·1 months (13·4-19·1) for those who did not choose euthanasia (hazard ratio 1·07, 95% CI 0·85-1·34; p=0·58). According to caregivers, compared with other end-of-life practices, patients with amyotrophic lateral sclerosis choosing euthanasia commonly reported reasons to hasten death as no chance of improvement (53 [56%] of 94 patients who chose euthanasia vs 28 [39%] of 72 patients who chose other end-of-life practices), loss of dignity (47 [50%] vs 15 [21%]), dependency (34 [36%] vs five [7%]), and fatigue or extreme weakness (41 [44%] vs 14 [20%]). According to caregivers, people with amyotrophic lateral sclerosis-whether they chose euthanasia or did not-were satisfied with the general quality (83 [93%] of 89 patients who chose euthanasia vs 73 [86%] of 85 patients who did not) and availability (85 [97%] of 88 vs 81 [91%] of 90) of end-of-life care. INTERPRETATION The proportion of patients with amyotrophic lateral sclerosis who chose euthanasia in the Netherlands has increased since 2002. The choice of euthanasia was not associated with disease or patient characteristics, depression or hopelessness, or the availability or quality of end-of-life care. The choice of euthanasia had no effect on overall survival. Future studies could focus on the effect of discussing end-of-life options on quality of life as part of multidisciplinary care throughout the course of the disease, to reduce feelings of loss of autonomy and dignity in patients living with amyotrophic lateral sclerosis. FUNDING Netherlands ALS Foundation.
Published: 2023
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22. List of Contributors

Author: Abdel-Azim, Hisham, primary, Acharya, Suchitra S., additional, Agrawal, Anurag K., additional, Arceci, Robert J., additional, Atlas, Mark P., additional, Bagatell, Rochelle, additional, Bernthal, Nicholas, additional, Bhatla, Teena, additional, Blanc, Lionel, additional, Bonilla, Mary Ann, additional, Bussel, James B., additional, Carroll, William L., additional, Dome, Jeffrey S., additional, Van Dyne, Elizabeth A., additional, Elghetany, Tarek M., additional, Federman, Noah, additional, Fein Levy, Carolyn, additional, Feusner, James, additional, Fish, Jonathan D., additional, Freedman, Jason L., additional, Friedman, Debra L., additional, Hanson, Derek R., additional, Hofmann, Inga, additional, Huang, Mary S., additional, Kessel, Rachel, additional, Krystal, Julie I., additional, Kwiatkowski, Janet L., additional, Lanzkowsky, Philip., additional, Leahey, Ann, additional, Lipton, Jeffrey M., additional, Luban, Naomi L.C., additional, McGuinn, Catherine, additional, Menell, Jill S., additional, Olson, Thomas A., additional, Park, Julie R., additional, Prchal, Josef T., additional, Rapkin, Louis B., additional, Redner, Arlene, additional, Rheingold, Susan R., additional, Sahdev, Indira, additional, Sankaran, Vijay G., additional, Sarangi, Susmita N., additional, Tashi, Tsewang, additional, Teachey, David T., additional, Tippy, Meg, additional, Vlachos, Adrianna, additional, Warwick, Anne B., additional, Weinstein, Howard, additional, Wexler, Leonard H., additional, Wolfe, Lawrence C., additional, and Wong, Edward C.C., additional
Published: 2016
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23. Rhabdomyosarcoma and Other Soft-Tissue Sarcomas

Author: Fein Levy, Carolyn, primary and Wexler, Leonard H., additional
Published: 2016
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24. Heparin-induced bullous hemorrhagic dermatosis: A report of 3 cases

Author: Maya J. Sinai, Madeline Frizzell, Sonal A. Parikh, Nhan M. Nguyen, and Leonard H. Goldberg
Subjects: RBC - Red blood cell, medicine.medical_specialty, papules, Dermatology, heparin, Gastroenterology, PT - Prothrombin time, dermatosis, hemorrhagic, Internal medicine, PT, prothrombin time, medicine, lcsh:Dermatology, Case Series, PTT, partial thromboplastin time, Prothrombin time, medicine.diagnostic_test, business.industry, PTT - Partial thromboplastin time, Warfarin, RBC, red blood cell, Heparin, lcsh:RL1-803, warfarin, Red blood cell, bullous, medicine.anatomical_structure, business, medicine.drug, Partial thromboplastin time
Published: 2020

25. Contributors

Author: Abdellatif, Engy, primary, Abeles, Aryeh M., additional, Abelson, Abby G., additional, Abhishek, Abhishek, additional, Abramson, Steven B., additional, Adachi, Jonathan D., additional, Adams, Michael A., additional, Aigner, Thomas, additional, Akira, Shizuo, additional, Aletaha, Daniel, additional, Aliprantis, Antonios O., additional, Almeida de Jesus, Adriana, additional, Altman, Roy D., additional, Amigo, Mary-Carmen, additional, Aringer, Martin, additional, Ascherman, Dana P., additional, Assassi, Shervin, additional, Atamas, Sergei P., additional, Azevedo, Pedro Ming, additional, Baer, Alan N., additional, Baeten, Dominique, additional, Baines, Colin, additional, Baker, Nancy A., additional, Balogh, Emese, additional, Balsa, Alejandro, additional, Baraliakos, Xenofon, additional, Bardin, Thomas, additional, Barnsley, Les, additional, Bathon, Joan M., additional, Bauch, Angela, additional, Belch, Jill J.F., additional, Bellamy, Nicholas, additional, Bellido, Teresita, additional, Benjamin, Michael, additional, Beresford, Michael W., additional, Berman, Brian, additional, Bermas, Bonnie Lee, additional, Bertsias, George, additional, Bilezikian, John P., additional, Bilginer, Yelda, additional, Birnbaum, Julius, additional, Bishop, Felicity L., additional, Bleasel, Jane F., additional, Böhm, Markus, additional, Bolster, Marcy B., additional, Bombardieri, Stefano, additional, Bonelli, Michael, additional, Bonnick, Sydney L., additional, Boumpas, Dimitrios T., additional, Bozec, Aline, additional, Brasington, Richard D., additional, Braun, Juergen, additional, Brown, Matthew A., additional, Bruce, Ian N., additional, Bugbee, William D., additional, Bukhari, Marwan A.S., additional, Burgos-Vargas, Rubén, additional, Burmester, Gerd-Rüdiger, additional, Burns, Jane C., additional, Burr, David B., additional, Buttgereit, Frank, additional, Bykerk, Vivian P., additional, Calabrese, Leonard H., additional, Callen, Jeffrey P., additional, Cavallo, Sabrina, additional, Cawston, Tim E., additional, Chandran, Vinod, additional, Chard, Michael Denis, additional, Chaudhary, Prateek, additional, Chen, Lan X., additional, Choi, Hyon K., additional, Choy, Ernest H., additional, Christopher-Stine, Lisa, additional, Chu, Alvina D., additional, Clauw, Daniel J., additional, Clements, Philip J., additional, Clowse, Megan E.B., additional, Coghlan, J. Gerry, additional, Conaghan, Philip G., additional, Cooper, Cyrus, additional, Costenbader, Karen H., additional, Creamer, Paul, additional, Crispín, José C., additional, Cronstein, Bruce N., additional, Cross, Raymond, additional, Cusano, Natalie E., additional, Cutolo, Maurizio, additional, D'Adamo, Chris, additional, D'Agati, Vivette, additional, D'Cruz, David P., additional, Dagfinrud, Hanne, additional, Daikh, David I., additional, Dalbeth, Nicola, additional, Dalton, Seamus E., additional, Dass, Shouvik, additional, Davis, Aileen M., additional, De Ceulaer, Karel, additional, Deal, Chad L., additional, Deane, Kevin D., additional, Della Rossa, Alessandra, additional, Dellaripa, Paul F., additional, Dennison, Elaine, additional, Denton, Christopher P., additional, Dieppe, Paul, additional, Doherty, Michael, additional, Dolan, Patricia, additional, Donn, Rachelle, additional, Dvorkina, Olga, additional, Dyer, George S.M., additional, Eastell, Richard, additional, Edwards, N. Lawrence, additional, Emery, Paul, additional, Erturan, Gurhan, additional, Espinoza, Luis R., additional, Eyre, Steve, additional, Fanouriakis, Antonios C., additional, Farber, Joshua, additional, Farrokhi, Shawn, additional, Fasth, Anders, additional, Feist, Eugen, additional, Feldman, Debbie, additional, Felson, David T., additional, Fisk, John D., additional, Fitzgerald, G. Kelley, additional, Flores, Raymond H., additional, Fox, David A., additional, Francomano, Clair A., additional, Frangos, Jennifer, additional, Freemont, Anthony J., additional, Fricka, Kevin B., additional, Furst, Daniel E., additional, Gabay, Cem, additional, Gadina, Massimo, additional, Gaston, J.S. Hill, additional, Gay, Steffen, additional, Gensler, Lianne S., additional, Geraldino-Pardilla, Laura, additional, Gerlag, Danielle M., additional, Ginzler, Ellen M., additional, Gizinski, Alison M., additional, Gladman, Dafna D., additional, Gold, Garry E., additional, Goldbach-Mansky, Raphaela, additional, Goldingay, Sarah, additional, Gordon, Sharon M., additional, Gorodkin, Rachel, additional, Goronzy, Jörg J., additional, Görtz, Simon, additional, Grahame, Rodney, additional, Grainger, Andrew J., additional, Gravallese, Ellen M., additional, Greenberg, Jeffrey D., additional, Gujar, Bansari, additional, Hagan, Matilda, additional, Hagley, Karlene, additional, Hakim, Alan J., additional, Hall, John C., additional, Hamuryudan, Vedat, additional, Hanly, John G., additional, Hanson, Eric P., additional, Haraoui, Boulos, additional, Harley, John B., additional, Hashkes, Philip J., additional, Hawker, Gillian A., additional, Hawkins, Philip N., additional, Heiberg, Turid, additional, Heinegård, Dick, additional, Helfgott, Simon M., additional, Ho, Pauline Y.P., additional, Hochberg, Marc C., additional, Hochman, Jacqueline, additional, Hodgkiss-Harlow, Chelsea J., additional, Hoffman, Robert W., additional, Hoffmann, Markus, additional, Holers, V. Michael, additional, Holick, Michael F., additional, Holroyd, Christopher, additional, Hübscher, Osvaldo, additional, Hunter, David J., additional, Husni, M. Elaine, additional, Inman, Robert D., additional, Isaac, Zacharia, additional, Iversen, Maura D., additional, Jabs, Douglas A., additional, Jackson, William, additional, Jaimungal, Sarada, additional, James, Judith A., additional, Javier, Rose-Marie, additional, Johnsen, Alyssa K., additional, Jordan, Joanne M., additional, Kaisho, Tsuneyasu, additional, Kallenberg, Cees G.M., additional, Kane, David, additional, Kapoor, Mohit, additional, Karlson, Elizabeth W., additional, Kassimos, Dimitrios G., additional, Kastner, Daniel L., additional, Katz, Jeffrey N., additional, Kay, Jonathan, additional, Kelly, Jennifer A., additional, Keystone, Edward, additional, Khamashta, Munther A., additional, Khanna, Dinesh, additional, Kjeken, Ingvild, additional, Koch, Alisa E., additional, Koff, Matthew F., additional, Kottyan, Leah, additional, Koutsogeorgopoulou, Loukia A., additional, Kraus, Virginia Byers, additional, Kumar, Pradeep, additional, Kvien, Tore K., additional, Lafyatis, Robert, additional, Landewé, Robert B.M., additional, Langford, Carol A., additional, Lau, Arthur N., additional, Laxer, Ronald M., additional, Learch, Thomas J., additional, Lewith, George, additional, Li, Yi, additional, Liao, Katherine P., additional, Littlejohn, Geoffrey, additional, Lorenzo, Pilar, additional, Luger, Thomas A., additional, Lundberg, Ingrid E., additional, Lundberg, Karin, additional, Machold, Klaus P., additional, MacKenzie, C. Ronald, additional, Mahr, Alfred D., additional, Manheimer, Eric, additional, Marini, Joan C., additional, Marquez, Javier, additional, Marsden, Debbie, additional, Martel-Pelletier, Johanne, additional, Martín-Mola, Emilio, additional, Martínez-Lavín, Manuel, additional, Massarotti, Elena M., additional, Matteson, Eric L., additional, Matzat, Stephen J., additional, Mayahi, Reza, additional, Mayes, Maureen Davidica, additional, McAlindon, Timothy, additional, McBain, Hayley, additional, McCarberg, Bill, additional, McCarthy, Edward F., additional, McCarthy, Geraldine, additional, McDermott, Michael F., additional, McGonagle, Dennis, additional, McLean, Lachy, additional, Merkel, Peter A., additional, Mikdashi, Jamal A., additional, Miller, Frederick W., additional, Miller, Paul D., additional, Minden, Kirsten, additional, Monach, Paul A., additional, Mulligan, Kathleen, additional, Namur, Gauthier, additional, Naredo, Esperanza, additional, Naylor, Kim E., additional, Nelson, Amanda E., additional, Newman, Stanton P., additional, Nordal, Ellen, additional, Nöth, Ulrich, additional, Ntatsaki, Eleana, additional, O'Shea, John J., additional, Oddis, Chester V., additional, Olivé, Alejandro, additional, Omair, Mohammed A., additional, Ombrello, Michael J., additional, Omisade, Antonina, additional, Ong, Voon H., additional, Önnerfjord, Patrik, additional, Orcel, Philippe, additional, Ospelt, Caroline, additional, Ozen, Seza, additional, Paget, Stephen A., additional, Patel, Dipak R., additional, Patrono, Carlo, additional, Pelletier, Jean-Pierre, additional, Pereira, Rosa Maria Rodrigues, additional, Pilkington, Clarissa A., additional, Pillinger, Michael H., additional, Pineda, Carlos, additional, Plenge, Robert M., additional, Price, Andrew, additional, Pricop, Luminita, additional, Rackwitz, Lars, additional, Ravelli, Angelo, additional, Redmond, Anthony C., additional, Reeves, Westley H., additional, Remmers, Elaine F., additional, Requena, Luis, additional, Ribbens, Clio, additional, Richardson, Bruce C., additional, Riera Alonso, Elena, additional, Riley, Graham, additional, Ritchlin, Christopher, additional, Ritter, Susan Y., additional, Rosas, Ivan O., additional, Rowan, Drew D., additional, Rudwaleit, Martin, additional, Rull, Marina, additional, Rygg, Marite, additional, Saag, Kenneth G., additional, Salmon, Jane E., additional, Salter, Donald M., additional, Salzberg, Daniel J., additional, Sambrook, Philip N., additional, Saxne, Tore, additional, Schaible, Hans-Georg, additional, Scher, Jose U., additional, Schett, Georg, additional, Schmitz, Nicole, additional, Schreiber, Benjamin, additional, Schumacher, H. Ralph, additional, Schwartz, Daniella Muallem, additional, Scott, David G.I., additional, Seton, Margaret, additional, Shapiro, Lauren M., additional, Sharby, Nancy, additional, Siegel, Jeffrey, additional, Siegel, Richard M., additional, Sieper, Joachim, additional, Silver, Richard M., additional, Silverberg, Shonni J., additional, Simard, Julia F., additional, Simmons, Barry P., additional, Simms, Robert W., additional, Singer, Nora G., additional, Smith, Malcolm D., additional, Smith, Stacy E., additional, Smolen, Josef S., additional, Spector, Tim D., additional, Steen, Virginia D., additional, Steere, Allen C., additional, Steiner, Günter, additional, Steinert, Andre F., additional, Stojan, George, additional, Stone, John H., additional, Strand, Vibeke, additional, Straub, Rainer H., additional, Streeten, Elizabeth A., additional, Superti-Furga, Giulio, additional, Symmons, Deborah P.M., additional, Szekanecz, Zoltan, additional, Tak, Paul P., additional, Tavoni, Antonio, additional, Taylor, Peter C., additional, Terkeltaub, Robert, additional, Thomas, Sarah S., additional, Thorne, Jennifer E., additional, Tobias, Jonathan H., additional, Tremoulet, Adriana H., additional, Tsokos, George C., additional, Tuan, Rocky S., additional, Turesson, Carl, additional, Unizony, Sebastian H., additional, Valdes, Ana M., additional, van den Berg, Wim B., additional, van der Heijde, Désirée, additional, van Vollenhoven, Ronald Frits, additional, Varga, John, additional, Vassilopoulos, Dimitrios, additional, Vital, Edward M., additional, Walker-Bone, Karen, additional, Wallace, Daniel J., additional, Warburton, Gary, additional, Ward, Robert J., additional, Watts, Richard, additional, Wechalekar, Mihir D., additional, Wedderburn, Lucy R., additional, Weinblatt, Michael E., additional, Weir, Matthew R., additional, Wenham, Claire Y.J., additional, West, Sterling G., additional, Weyand, Cornelia M., additional, White, Kenneth E., additional, Winthrop, Kevin L., additional, Wong, John B., additional, Woolf, Anthony D., additional, Worthington, Jane, additional, Xu, Huji, additional, Yazici, Hasan, additional, Young, D.A., additional, Yurdakul, Sebahattin, additional, Zhang, Yuqing, additional, and Zhuang, Haoyang, additional
Published: 2015
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26. Rheumatologic aspects of viral infections

Author: Vassilopoulos, Dimitrios, primary and Calabrese, Leonard H., additional
Published: 2015
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27. High-resolution mapping identifies HLA class II associations with multifocal motor neuropathy

Author: Opleiding Neurologie, CDL Patiëntenzorg MI, Infection & Immunity, Projectafdeling ALS, Neurologen, Brain, Regenerative Medicine and Stem Cells, Bos, Jeroen W., Otten, Henny G., Herraets, Ingrid J.T., Goedee, H. Stephan, Cats, E. A., de Hoop, Talitha, Verduijn, Willem, van der Pol, W. Ludo, van den Berg, Leonard H., Opleiding Neurologie, CDL Patiëntenzorg MI, Infection & Immunity, Projectafdeling ALS, Neurologen, Brain, Regenerative Medicine and Stem Cells, Bos, Jeroen W., Otten, Henny G., Herraets, Ingrid J.T., Goedee, H. Stephan, Cats, E. A., de Hoop, Talitha, Verduijn, Willem, van der Pol, W. Ludo, and van den Berg, Leonard H.
Published: 2021

28. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

Author: Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, James B. Rowe, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D. Glass, Andrew B. Singleton, Vincenzo Silani, Owen A. Ross, Mina Ryten, Ali Torkamani, Toshiko Tanaka, Luigi Ferrucci, Susan M. Resnick, Stuart Pickering-Brown, Christopher B. Brady, Neil Kowal, John A. Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B. Harms, Huw R. Morris, Raffaele Ferrari, John E. Landers, Adriano Chiò, J. Raphael Gibbs, Clifton L. Dalgard, Sonja W. Scholz, Bryan J. Traynor, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Daniel N. Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon D. Topp, Jason Kost, Emma L. Scotter, Kevin P. Kenna, Jack W. Miller, Cinzia Tiloca, Caroline Vance, Eric W. Danielson, Claire Troakes, Claudia Colombrita, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban-Pérez, José Luis Muñoz-Blanco, Zorica Stevic, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Kevin B. Boylan, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García-Redondo, Zheyang Wu, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Christopher E. Shaw, John C. Ambrose, Prabhu Arumugam, Emma L. Baple, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, H. Brittain, Mark J. Caulfield, Georgia C. Chan, Clare E.H. Craig, Louise C. Daugherty, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió-Tarí, Joanne M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James E. Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Christine Patch, Daniel Perez-Gil, Dimitris Polychronopoulos, John Pullinger, Tahrima Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Ellen R.A. Thomas, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki, Sampath Arepalli, Pavan Auluck, Robert H. Baloh, Robert Bowser, Alexis Brice, James Broach, William Camu, John Cooper-Knock, Philippe Corcia, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, Faraz Faghri, Jennifer Farren, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Glenn Gerhard, Summer B. Gibson, Stephen A. Goutman, Terry D. Heiman-Patterson, Dena G. Hernandez, Ben Hoover, Lilja Jansson, Freya Kamel, Janine Kirby, Neil W. Kowall, Hannu Laaksovirta, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel JL. MacGowan, Nicholas J. Maragakis, Gabriele Mora, Kevin Mouzat, Liisa Myllykangas, Mike A. Nalls, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Erik Pioro, Stefan M. Pulst, John M. Ravits, Alan E. Renton, Wim Robberecht, Ian Robey, Ekaterina Rogaeva, Jeffrey D. Rothstein, Michael Sendtner, Katie C. Sidle, Zachary Simmons, David J. Stone, Pentti J. Tienari, John Q. Trojanowski, Juan C. Troncoso, Miko Valori, Philip Van Damme, Ludo Van Den Bosch, Lorne Zinman, Diego Albani, Barbara Borroni, Alessandro Padovani, Amalia Bruni, Jordi Clarimon, Oriol Dols-Icardo, Ignacio Illán-Gala, Alberto Lleó, Adrian Danek, Daniela Galimberti, Elio Scarpini, Maria Serpente, Caroline Graff, Huei-Hsin Chiang, Behzad Khoshnood, Linn Öijerstedt, Christopher M. Morris, Benedetta Nacmias, Sandro Sorbi, Jorgen E. Nielsen, Lynne E. Hjermind, Valeria Novelli, Annibale A. Puca, Pau Pastor, Ignacio Alvarez, Monica Diez-Fairen, Miquel Aguilar, Robert Perneczky, Janine Diehl-Schimd, Mina Rossi, Agustin Ruiz, Mercè Boada, Isabel Hernández, Sonia Moreno-Grau, Johannes C. Schlachetzki, Dag Aarsland, Marilyn S. Albert, Johannes Attems, Matthew J. Barrett, Thomas G. Beach, Lynn M. Bekris, David A. Bennett, Lilah M. Besser, Eileen H. Bigio, Sandra E. Black, Bradley F. Boeve, Ryan C. Bohannan, Francesca Brett, Maura Brunetti, Chad A. Caraway, Jose-Alberto Palma, Andrea Calvo, Antonio Canosa, Dennis Dickson, Charles Duyckaerts, Kelley Faber, Tanis Ferman, Margaret E. Flanagan, Gianluca Floris, Tatiana M. Foroud, Juan Fortea, Ziv Gan-Or, Steve Gentleman, Bernardino Ghetti, Jesse Raphael Gibbs, Alison Goate, David Goldstein, Isabel González-Aramburu, Neill R. Graff-Radford, Angela K. Hodges, Heng-Chen Hu, Daniel Hupalo, Jon Infante, Alex Iranzo, Scott M. Kaiser, Horacio Kaufmann, Julia Keith, Ronald C. Kim, Gregory Klein, Rejko Krüger, Walter Kukull, Amanda Kuzma, Carmen Lage, Suzanne Lesage, James B. Leverenz, Giancarlo Logroscino, Grisel Lopez, Seth Love, Qinwen Mao, Maria Jose Marti, Elisa Martinez-McGrath, Mario Masellis, Eliezer Masliah, Patrick May, Ian McKeith, Marek-Marsel Mesulam, Edwin S. Monuki, Kathy L. Newell, Lucy Norcliffe-Kaufmann, Laura Palmer, Matthew Perkins, Olga Pletnikova, Laura Molina-Porcel, Regina H. Reynolds, Eloy Rodríguez-Rodríguez, Jonathan D. Rohrer, Pascual Sanchez-Juan, Clemens R. Scherzer, Geidy E. Serrano, Vikram Shakkottai, Ellen Sidransky, Nahid Tayebi, Alan J. Thomas, Bension S. Tilley, Ronald L. Walton, Randy Woltjer, Zbigniew K. Wszolek, Georgia Xiromerisiou, Chiara Zecca, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Neil A. Shneider, Ernest Fraenkel, Noah Zaitlen, James D. Berry, Andrea Malaspina, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos.A. Patsopoulos, Oleg Butovsky, Joshua Dubnau, Avindra Nath, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent Harris, Iris Broce, Vivian Drory, John Ravits, Corey McMillan, Vilas Menon, Lani Wu, Steven Altschuler, Khaled Amar, Neil Archibald, Oliver Bandmann, Erica Capps, Alistair Church, Jan Coebergh, Alyssa Costantini, Peter Critchley, Boyd CP. Ghosh, Michele T.M. Hu, Christopher Kobylecki, P. Nigel Leigh, Carl Mann, Luke A. Massey, Uma Nath, Nicola Pavese, Dominic Paviour, Jagdish Sharma, Jenny Vaughan, HUS Neurocenter, Neurologian yksikkö, Department of Neurosciences, Clinicum, Pentti Tienari / Principal Investigator, Parkinson's UK, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Pathology, ANS - Cellular & Molecular Mechanisms, AII - Inflammatory diseases, Universidad de Cantabria, Rowe, James [0000-0001-7216-8679], and Apollo - University of Cambridge Repository
Subjects: 0301 basic medicine, Huntington's Disease, Pathology, amyotrophic lateral sclerosis, Huntingtin, Neurology, 1702 Cognitive Sciences, International ALS/FTD Genomics Consortium, Neurodegenerative, frontotemporal dementia, 3124 Neurology and psychiatry, 0302 clinical medicine, Medicine, 2.1 Biological and endogenous factors, Psychology, Amyotrophic lateral sclerosis, Aetiology, Alzheimer's Disease Related Dementias (ADRD), NYGC ALS Consortium, Huntingtin Protein, DNA Repeat Expansion, General Neuroscience, Frontotemporal Dementia (FTD), International FTD Genetics Consortium, whole-genome sequencing, Frontotemporal Dementia, Neurological, Cognitive Sciences, Lewy body dementia, huntingtin, repeat expansions, Amyotrophic Lateral Sclerosis, Humans, Mutation, Whole Genome Sequencing, Frontotemporal dementia, Huntington’s disease, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, FALS Sequencing Consortium, Article, 03 medical and health sciences, Atrophy, Rare Diseases, American Genome Center, Clinical Research, mental disorders, Genetics, Acquired Cognitive Impairment, Dementia, PROSPECT Consortium, Neurology & Neurosurgery, Lewy body, business.industry, International LBD Genomics Consortium, Neurosciences, 3112 Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), nutritional and metabolic diseases, medicine.disease, Brain Disorders, nervous system diseases, 030104 developmental biology, Genomics England Research Consortium, 1701 Psychology, ALS, business, 1109 Neurosciences, 030217 neurology & neurosurgery
Abstract: Hannu Laaksovirta konsortion jäsenenä. The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium, The PROSPECT Consortium,17 James B. Rowe,17 Luisa Benussi,18 Giuliano Binetti,18,19 Roberta Ghidoni,18 Edwin Jabbari,20,21 Coralie Viollet,22 Jonathan D. Glass,23 Andrew B. Singleton,24 Vincenzo Silani,25,26 Owen A. Ross,27 Mina Ryten,8,28,29 Ali Torkamani,30 Toshiko Tanaka,31 Luigi Ferrucci,31 Susan M. Resnick,32 We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40?64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington?s disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered. We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40?64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington?s disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
Published: 2020

29. A proposal for new diagnostic criteria for ALS

Author: Steven Vucic, Mamede de Carvalho, José Manuel Matamala, Neil G. Simon, Orla Hardiman, Robert D. Henderson, Matthew C. Kiernan, Liying Cui, Walter Paulus, Andrew Eisen, David Burke, Jeremy M. Shefner, Renato J. Verdugo, Hiroshi Mitsumoto, Michael Swash, Yoshikazu Ugawa, Leonard H. van den Berg, Mark R. Baker, Julian Grosskreutz, Kevin Talbot, Martin R Turner, Ammar Al-Chalabi, Ryuji Kaji, and Repositório da Universidade de Lisboa
Subjects: Motor Neurons, Electromyography, Amyotrophic Lateral Sclerosis, 05 social sciences, Library science, Reference Standards, 050105 experimental psychology, Sensory Systems, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Neurology, Physiology (medical), Political science, Humans, 0501 psychology and cognitive sciences, Neurology (clinical), Muscle, Skeletal, License, Reference standards, 030217 neurology & neurosurgery
Abstract: © 2020 The Authors. Published by Elsevier B.V. on behalf of International Federation of Clinical Neurophysiology. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)., Sclerosis (ALS) were initially published in 1994 and revised in 2000. Criteria were established because the ‘‘variety of clinical features which may be present early in the course of ALS makes absolute diagnosis difficult and compromises the certainty of diagnosis for clinical research purposes and therapeutic trials.” The original criteria described 4 categories of disease: Definite, Probable, Possible, and Suspected ALS. However, subsequent clinical experience made it clear that non-Definite categories included patients who would ultimately die of ALS with a high degree of clinical certainty.
Published: 2020

30. Inflammatory, vascular, and infectious myelopathies in children

Author: Verhey, Leonard H., primary and Banwell, Brenda L., additional
Published: 2013
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31. Contributors

Author: Abeles, Aryeh M., primary, Abelson, Abby G., additional, Abhishek, Abhishek, additional, Abramson, Steven B., additional, Adams, Michael A., additional, Adlam, David M., additional, Aigner, Thomas, additional, Akira, Shizuo, additional, Aksentijevich, Ivona, additional, Aletaha, Daniel, additional, Aliprantis, Antonios O., additional, Allaart, Cornelia F., additional, Allen, Pamela G., additional, Altman, Roy D., additional, Aringer, Martin, additional, Ascherman, Dana P., additional, Assassi, Shervin, additional, Atamas, Sergei P., additional, Baer, Alan N., additional, Baeten, Dominique, additional, Baker, Nancy, additional, Balsa, Alejandro, additional, Barnsley, Les, additional, Bathon, Joan M., additional, Becker, Michael A., additional, Belch, Jill JF, additional, Bellamy, Nicholas, additional, Bellido, Teresita, additional, Benitez, R. Michael, additional, Benjamin, Michael, additional, Beresford, Michael W., additional, Berman, Brian M., additional, Bermas, Bonnie Lee, additional, Bertsias, George, additional, Bilezikian, John P., additional, Blazar, Philip E., additional, Bleasel, Jane F., additional, Böhm, Markus, additional, Boileau, Christelle, additional, Bolster, Marcy B., additional, Bombardieri, Stefano, additional, Bonnick, Sydney, additional, Boumpas, Dimitrios T., additional, Brasington, Richard D., additional, Breedveld, Ferdinand, additional, Brien, Earl W., additional, Brower, Anne C., additional, Brown, Matthew A., additional, Bruce, Ian N., additional, Bugbee, William D., additional, Bukhari, Marwan A.S., additional, Burgos-Vargas, Rubén, additional, Burns, Jane C., additional, Burr, David B., additional, Cagnoli, Patricia C., additional, Calabrese, Leonard H., additional, Callen, Jeffrey P., additional, Canoso, Juan J., additional, Cavallo, Sabrina, additional, Cawston, Tim E., additional, Chard, Michael Denis, additional, Chen, Lan X., additional, Choy, Ernest H.S., additional, Clauw, Daniel J., additional, Clements, Philip J., additional, Colburn, Nona T., additional, Coleman, Laura A., additional, Conaghan, Philip G., additional, Cooper, Cyrus, additional, Cosman, Felicia, additional, Costenbader, Karen H., additional, Creamer, Paul, additional, Crispin, José C., additional, Criswell, Lindsey A., additional, Cronstein, Bruce N., additional, Cross, Raymond, additional, Cusano, Natalie E., additional, Cush, John J., additional, Cutolo, Maurizio, additional, D’Agati, Vivette, additional, Dagfinrud, Hanne, additional, Daikh, David I., additional, Dalton, Seamus E., additional, Dass, Shouvik, additional, David, Jean-Pierre, additional, Davis, Aileen, additional, Deal, Chad L., additional, De Ceulaer, Karel, additional, Deighton, Chris, additional, Dellaripa, Paul F., additional, Rossa, Alessandra Della, additional, Dempster, David, additional, Dennison, Elaine, additional, Denton, Christopher P., additional, Denton, John, additional, Dhawale, Roshan, additional, Doherty, Michael, additional, Dolan, Patricia, additional, Donn, Rachelle, additional, Dooley, Mary Anne, additional, Dougados, Maxime, additional, Drummond, Michael F., additional, Dyer, George S.M., additional, Earp, Brandon E., additional, Edwards, N. Lawrence, additional, Ellender, Patrick, additional, Emery, Paul, additional, Espinoza, Luis R., additional, Farber, Joshua M., additional, Fasth, Anders, additional, Feldman, Debbie, additional, Felson, David T., additional, Fitzgerald, G. Kelley, additional, Flores, Raymond H., additional, Fox, David A., additional, Francomano, Clair A., additional, Freemont, Anthony J., additional, Fresko, Izzet, additional, Fricka, Kevin B., additional, Furst, Daniel E., additional, Gabay, Cem, additional, Gabriel, Sherine E., additional, Galarraga, Bernat, additional, Gäre, Boel Andersson, additional, Garnero, Patrick, additional, Gensler, Lianne S., additional, Gerlag, Danielle M., additional, Geusens, Piet P., additional, Giles, Jon T., additional, Ginzler, Ellen M., additional, Gizinski, Alison M., additional, Gold, Garry, additional, Gonzalez-Rivera, Tania, additional, Gordon, Caroline, additional, Gorodkin, Rachel, additional, Goronzy, Jorg J., additional, Görtz, Simon, additional, Gournelos, Elena, additional, Grahame, Rodney, additional, Grainger, Andrew J., additional, Gravallese, Ellen M., additional, Greenberg, Jeffrey D., additional, Hagley, Karlene, additional, Hakim, Alan J., additional, Hamuryudan, Vedat, additional, Haraoui, Boulos, additional, Harder, Adam, additional, Harley, John B., additional, Harris, E. Nigel, additional, Hashkes, Philip J., additional, Hawker, Gillian, additional, Hawkins, Philip N., additional, Heiberg, Turid, additional, Heinegård, Dick, additional, Helfgott, Simon M., additional, Heller, Jenny E., additional, Herrick, Ariane L., additional, Higgins, Laurence D., additional, Gaston, J. S. Hill, additional, Hochberg, Marc C., additional, Hoffmann, Markus, additional, Holers, V. Michael, additional, Holick, Michael F., additional, Holroyd, Christopher, additional, Hübscher, Osvaldo, additional, Huizinga, Tom W.J., additional, Hunter, David J., additional, Husni, M. Elaine, additional, Inman, Robert D., additional, Isaac, Zacharia, additional, Iversen, Maura D., additional, Jabs, Douglas A., additional, James, Hayley, additional, Javier, Rose-Marie, additional, Jayne, David, additional, Johnsen, Alyssa K., additional, Jordan, Joanne M., additional, Joy, Melanie S., additional, Kaisho, Tsuneyasu, additional, Kallenberg, Cees G.M., additional, Kanno, Yuka, additional, Karlson, Elizabeth W., additional, Kassimos, Dimitrios G., additional, Kastner, Daniel L., additional, Katz, Jeffrey N., additional, Kavanaugh, Arthur, additional, Kay, Jonathan, additional, Kelly, Jennifer A., additional, Keystone, Edward, additional, Khamashta, Munther A., additional, Khanna, Dinesh, additional, Kim, Peter W., additional, Kjeken, Ingvild, additional, Koch, Alisa E., additional, Koff, Matthew F., additional, Kraus, Virginia Byers, additional, Kremers, Hillal Maradit, additional, Krug, Hollis Elaine, additional, Kumar, Pradeep, additional, Kvien, Tore K., additional, Lafyatis, Robert, additional, Landau, Talia, additional, Landewé, Robert B.M., additional, Langford, Carol A., additional, Laxer, Ronald M., additional, Learch, Thomas J., additional, Leirisalo-Repo, Marjatta, additional, Lewith, George T., additional, Li, Yi, additional, Liao, Katherine P., additional, Littlejohn, Geoffrey, additional, Lockshin, Michael D., additional, Lorenzo, Pilar, additional, Luger, Thomas A., additional, Lundberg, Ingrid E., additional, Luthra, Harvinder S., additional, Machold, Klaus P., additional, Mackenzie, C. Ronald, additional, Mahowald, Maren Lawson, additional, Mahr, Alfred D., additional, Marini, Joan C., additional, Markalanda, Eresha, additional, Marquez, Javier, additional, Martel-Pelletier, Johanne, additional, Martin-Mola, Emilio, additional, Martinez-Lavin, Manuel, additional, Massarotti, Elena M., additional, Matteson, Eric L., additional, Mayes, Maureen, additional, Mayosi, Bongani M., additional, McAlindon, Timothy, additional, McCallum, Rex M., additional, McCarthy, Geraldine, additional, McCune, W. Joseph, additional, McGann, Stephany A., additional, McGonagle, Dennis, additional, McLean, Lachy, additional, Mease, Philip J., additional, Merkel, Peter A., additional, Mikdashi, Jamal A., additional, Miller, Frederick W., additional, Miller, Paul D., additional, Minden, Kirsten, additional, Mitsias, Dimitris I., additional, Mody, Girish M., additional, Monach, Paul A., additional, Moreland, Larry W., additional, Moutsopoulos, Haralampos M., additional, Namur, Gauthier, additional, Naredo, Esperanza, additional, Nashel, David J., additional, Nelson, Amanda E., additional, Newman, Stanton P., additional, Nossent, Johannes C., additional, Nöth, Ulrich, additional, O’Connor, Philip, additional, Oddis, Chester V., additional, Olsson, K. Sigvard, additional, Ombrello, Michael J., additional, Orcel, Philippe, additional, O'Shea, John J., additional, Paget, Stephen A., additional, Patrono, Carlo, additional, Pelletier, Jean-Pierre, additional, Pierangeli, Silvia, additional, Pierce, Heather, additional, Pilkington, Clarissa A., additional, Pillinger, Michael H., additional, Pineda, Carlos, additional, Plenge, Robert M., additional, Pricop, Luminita, additional, Rackwitz, Lars, additional, Ramani, Gautam, additional, Ravelli, Angelo, additional, Reeves, Westley H., additional, Remmers, Elaine F., additional, Repo, Heikki, additional, Requena, Luis, additional, Ribbens, Clio, additional, Riley, Graham, additional, Ritchlin, Christopher, additional, Rosas, Ivan O., additional, Roubenoff, Ronenn, additional, Rowan, A.D., additional, Rudwaleit, Martin, additional, Saag, Kenneth G., additional, Salmon, Jane E., additional, Salonen, David C., additional, Salter, Donald M., additional, Salzberg, Daniel J., additional, Sambrook, Philip N., additional, Sanofsky, Benjamin, additional, Saxne, Tore, additional, Schaible, Hans-Georg, additional, Schett, Georg, additional, Schmitz, Nicole, additional, Schon, Lew C., additional, Schumacher, H. Ralph, additional, Scott, David G.I., additional, Seidelmann, Brooke, additional, Sestak, Andrea L., additional, Seton, Margaret, additional, Shadick, Nancy A., additional, Shapiro, Lauren, additional, Shi, Lewis L., additional, Sidiropoulos, Prodromos, additional, Siegel, Richard M., additional, Sieper, Joachim, additional, Silver, Richard M., additional, Silverberg, Shonni J., additional, Simard, Julia F., additional, Simmons, Barry P., additional, Simms, Robert W., additional, Sims, John, additional, Singer, Nora G., additional, Smith, Malcolm D., additional, Smith, Stacy E., additional, Smolen, Josef S., additional, Spector, Tim D., additional, St. Clair, E. William, additional, Steen, Virginia D., additional, Steiner, Günter, additional, Steinert, Andre F., additional, Stone, John H., additional, Stone, Millicent A., additional, Straub, Rainer H., additional, Symmons, Deborah P.M., additional, Szekanecz, Zoltán, additional, Szer, Ilona S., additional, Tak, Paul P., additional, Tavoni, Antonio, additional, Taylor, Peter C., additional, Terkeltaub, Robert, additional, Thabet, Mohamed M., additional, Thorne, Jennifer E., additional, Tsokos, George C., additional, Tuan, Rocky S., additional, Turesson, Carl, additional, Tzioufas, Athanasios G., additional, Uber, Patricia A., additional, van den Berg, Wim B., additional, van der Heijde, Désirée, additional, van Gaalen, Floris A., additional, Varga, John, additional, Vassilopoulos, Dimitrios, additional, Vasudevan, Archana R., additional, Venables, Patrick J.W., additional, Vital, Edward M., additional, Wakefield, Richard J., additional, Walker, Jennifer G., additional, Ward, Robert J., additional, Watts, Richard, additional, Wedderburn, Lucy R., additional, Weinblatt, Michael E., additional, Weir, Matthew R., additional, Wenham, Claire Y.J., additional, West, Sterling G., additional, Weyand, Cornelia M., additional, White, Kenneth E., additional, Williams, Frances M.K., additional, Winthrop, Kevin L., additional, Woolf, Anthony D., additional, Worthington, Jane, additional, Wright, John, additional, Yazici, Hasan, additional, Yazici, Yusuf, additional, York, John R., additional, Young, D.A., additional, Yurdakul, Sebahattin, additional, Zhai, Guangju, additional, Zhang, Yuqing, additional, and Zhuang, Haoyang, additional
Published: 2011
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32. Rheumatologic aspects of viral infections

Author: Vassilopoulos, Dimitrios, primary and Calabrese, Leonard H., additional
Published: 2011
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33. Contributors

Author: Arceci, M.D., Robert J., primary, Acharya, Suchitra S., additional, Alderfer, Melissa A., additional, Atlas, Mark, additional, Bagatell, Rochelle, additional, Bonilla, Mary Ann, additional, Bussel, James, additional, Cairo, Mitchell S., additional, Chen, Andrew, additional, Dome, Jeffrey, additional, DuBois, Steven, additional, Levy, Carolyn Fein, additional, Fish, Jonathan, additional, Friedman, Debra L., additional, Gorlick, Richard, additional, Gratias, Eric, additional, Hochberg, Jessica, additional, Janeway, Katherine A., additional, Kwiatkowski, Janet L., additional, Lanzkowsky, Philip, additional, Lipton, Jeffrey M., additional, Marina, Neyssa, additional, Menell, Jill S., additional, Olson, Thomas A., additional, Prasad, Pinki, additional, Park, Julie R., additional, Prchal, Josef T., additional, Redner, Arlene, additional, Renaud, Thomas, additional, Rheingold, Susan, additional, Rubin, Lorry Glen, additional, Sahdev, Indira, additional, Scerbo, Jessica, additional, Teachey, David T., additional, Issai Vanan, M., additional, Wexler, Leonard H., additional, Wiener, Lori S., additional, and Wolfe, Lawrence, additional
Published: 2011
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34. List of Contributors

Author: Aasi, Sumaira Z, primary, Affleck, Andrew G, additional, Ammirati, Christie T, additional, Arndt, Kenneth A, additional, Arpey, Christopher J, additional, Baldwin, Hilary, additional, Bello, Ysabel, additional, Bernstein, Robert M, additional, Beynet, David P, additional, Bogle, Melissa A, additional, Bonilla-Martinez, Zuleika L, additional, Book, Samuel E, additional, Breu, Franz X, additional, Brown, Katherine L, additional, Butterwick, Kimberly J, additional, Carney, J Michael, additional, Chapas, Anne M, additional, Charles, Carlos A, additional, Colver, Graham, additional, Cook, Jonathan L, additional, Cook, Joel, additional, Cox, Sue Ellen, additional, Donofrio, Lisa M, additional, Erickson, Quenby L, additional, Falabella, Anna F, additional, Fernández-Obregón, Adolfo C, additional, Fincher, Edgar F, additional, Fish, Frederick S, additional, Fisher, Valerie T, additional, Fratila, Alina, additional, Geronemus, Roy G, additional, Gladstone, Hayes B, additional, Glaser, Dee Anna, additional, Goldberg, Leonard H, additional, Goldman, Mitchel P, additional, Goldman, Glenn D, additional, Graber, Emmy M, additional, Greenway, Hubert T, additional, Haas, Ann F, additional, Hale, Elizabeth K, additional, Halpern, Alan C, additional, Haneke, Eckart, additional, Hanke, C William, additional, Harmon, Christopher B, additional, Hexsel, Camile L, additional, Hexsel, Doris M, additional, Hruza, George J, additional, Isenhath, Scott N, additional, Iyengar, Vivek, additional, Jacob, Carolyn I, additional, Joseph, Aaron K, additional, Kaminer, Michael S, additional, Kauvar, Arielle NB, additional, Khunger, Niti, additional, Kirsner, Robert S, additional, Kovalyshyn, Ivanka, additional, Lahiri, Koushik, additional, Lane, Robert B, additional, Langdon, Robert C, additional, Lawrence, Naomi, additional, Lee, Ken K, additional, Leffell, David J, additional, Leonhardt, Janie M, additional, Leveriza-Oh, May, additional, Levy, Ross M, additional, Li, Jie, additional, MacNeal, Robert J, additional, Maggio, Kurt T, additional, Marghoob, Ashfaq A, additional, Messingham, Michael J, additional, Moody, Brent R, additional, Morganroth, Greg S, additional, Moy, Ronald L, additional, Mysore, Venkataram, additional, Nemeth, Shari A, additional, Nguyen, Tri H, additional, Pannier, Felicitas, additional, Pasquali, Paola, additional, Phillips, Tania J, additional, Rabe, Eberhard, additional, Robinson, June K, additional, Rohrer, Thomas E, additional, Sadeghi, Parrish, additional, Sattler, Gerhard, additional, Schulze, Rafael A, additional, Sebastian, Günther J, additional, Sengelmann, Roberta D, additional, Siegel, Daniel Mark, additional, Silapunt, Sirunya, additional, Soderburg, John M, additional, Somoano, Brian, additional, Soon, Seaver L, additional, Soriano, Teresa T, additional, Spencer, James M, additional, Squires, Jeffrey A, additional, Stebbins, William G, additional, Swanson, Neil A, additional, Taylor, R Stan, additional, Tierney, Emily P, additional, Troilius, Agneta, additional, Tsao, Sandy S, additional, Vidimos, Allison T, additional, Washington, Carl V, additional, Weiss, Robert A, additional, Weitzul, Sarah, additional, Zitelli, John A, additional, and Zouboulis, Christos C, additional
Published: 2010
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35. Repair of the Split Earlobe, Ear Piercing, and Earlobe Reduction

Author: Silapunt, Sirunya, primary and Goldberg, Leonard H, additional
Published: 2010
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36. Primary Angiitis of the Central Nervous System

Author: Hajj-Ali, Rula A., primary and Calabrese, Leonard H., additional
Published: 2010
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37. Antineutrophil Cytoplasmic Antibody–Associated Vasculitis

Author: Calabrese, Leonard H., primary, Molloy, Eamonn S., additional, and Duna, George, additional
Published: 2009
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38. Chapter 12 Multifocal and other motor neuropathies

Author: Van Den Berg, Leonard H., primary, Franssen, Hessel, additional, Van Asseldonk, Jan-Thies H., additional, Van Den Berg-Vos, Renske M., additional, and Wokke, John H.J., additional
Published: 2007
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39. Chapter 8: Some Problems Relating to Fluorides in the Environment: Effects on Plants and Animals

Author: Davison, Alan W., primary and Weinstein, Leonard H., additional
Published: 2006
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40. Deep learning predictions of survival based on MRI in amyotrophic lateral sclerosis

Author: Ruben Schmidt, Martijn P. van den Heuvel, Hannelore K. van der Burgh, Henk Jan Westeneng, Marcel A. de Reus, Leonard H. van den Berg, and Human genetics
Subjects: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Neuromuscular disease, Survival, Cognitive Neuroscience, lcsh:Computer applications to medicine. Medical informatics, lcsh:RC346-429, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Journal Article, medicine, Outpatient clinic, Humans, Radiology, Nuclear Medicine and imaging, Amyotrophic lateral sclerosis, Set (psychology), lcsh:Neurology. Diseases of the nervous system, Aged, Aged, 80 and over, Training set, Artificial neural network, business.industry, Deep learning, Brain morphometry, Regular Article, Middle Aged, medicine.disease, Prognosis, Magnetic Resonance Imaging, Neural network, Surgery, 030104 developmental biology, Neurology, White matter connectivity, lcsh:R858-859.7, Female, Neurology (clinical), Artificial intelligence, Radiology, Neural Networks, Computer, business, Prediction, 030217 neurology & neurosurgery
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease, with large variation in survival between patients. Currently, it remains rather difficult to predict survival based on clinical parameters alone. Here, we set out to use clinical characteristics in combination with MRI data to predict survival of ALS patients using deep learning, a machine learning technique highly effective in a broad range of big-data analyses. A group of 135 ALS patients was included from whom high-resolution diffusion-weighted and T1-weighted images were acquired at the first visit to the outpatient clinic. Next, each of the patients was monitored carefully and survival time to death was recorded. Patients were labeled as short, medium or long survivors, based on their recorded time to death as measured from the time of disease onset. In the deep learning procedure, the total group of 135 patients was split into a training set for deep learning (n = 83 patients), a validation set (n = 20) and an independent evaluation set (n = 32) to evaluate the performance of the obtained deep learning networks. Deep learning based on clinical characteristics predicted survival category correctly in 68.8% of the cases. Deep learning based on MRI predicted 62.5% correctly using structural connectivity and 62.5% using brain morphology data. Notably, when we combined the three sources of information, deep learning prediction accuracy increased to 84.4%. Taken together, our findings show the added value of MRI with respect to predicting survival in ALS, demonstrating the advantage of deep learning in disease prognostication., Highlights • Structural connectivity MRI is predictive for ALS survival. • Deep learning is an effective strategy for MRI connectivity based prognostication. • Deep learning may offer a promising tool for disease prognostication.
Published: 2017

41. List of Contributors

Author: Aasi, Sumaira Z, primary, Alster, Tina S, additional, Ammirati, Christie T, additional, Anderson, E Ratcliffe, additional, Arndt, Kenneth A, additional, Arpey, Christopher J, additional, Baldwin, Hilary, additional, Berg, Daniel, additional, Bernstein, Robert M, additional, Bhatia, Ashish C, additional, Bogle, Melissa A, additional, Book, Samuel E, additional, Butterwick, Kimberly J, additional, Carney, J Michael, additional, Carruthers, Alastair, additional, Carruthers, Jean, additional, Carucci, John A, additional, Castro-Ron, Gilberto, additional, Charles, Carlos A, additional, Christensen, Dane R, additional, Coldiron, Brett M, additional, Cook, Joel, additional, Cook, Jonathan L, additional, Cox, Sue Ellen, additional, Davey, W Patrick, additional, Dinehart, Scott M, additional, Donofrio, Lisa M, additional, Drugge, Rhett J, additional, Falabella, Anna F, additional, Fein, Howard, additional, Fernández-Obregón, Adolfo C, additional, Fincher, Edgar F, additional, Fish, Frederick S, additional, Garcia, Carlos, additional, Gladstone, Hayes B, additional, Glaser, Dee Anna, additional, Goldberg, Leonard H, additional, Goldman, Glenn D, additional, Goldman, Mitchel P, additional, Gorman, Annalisa K, additional, Greenway, Hubert T, additional, Haas, Ann F, additional, Halpern, Allan C, additional, Haneke, Eckart, additional, Hanke, C William, additional, Harmon, Christopher B, additional, Hruza, George J, additional, Huang, Carol L, additional, Iyengar, Vivek, additional, Jacob, Carolyn I, additional, Joseph, Aaron K, additional, Kaminer, Michael S, additional, Kauvar, Arielle NB, additional, Kirsner, Robert S, additional, Krant, Jessica J, additional, Langdon, Robert C, additional, Lask, Gary P, additional, Lawrence, Naomi, additional, Lawry, Monica, additional, Layman, Jason, additional, Lee, Ken K, additional, Leffell, David J, additional, Leonhardt, Janie M, additional, Leveriza-Oh, May, additional, Li, Jie, additional, Maggio, Kurt L, additional, Maloney, Mary, additional, Marghoob, Ashfaq A, additional, Mason, Camille L, additional, Moody, Brent R, additional, Moy, Ronald L, additional, Naylor, Mark, additional, Nguyen, Tri H, additional, Pasquali, Paola, additional, Phillips, Tania J, additional, Pollack, Sheldon V, additional, Robinson, June K, additional, Rohrer, Thomas E, additional, Sattler, Gerhard, additional, Sengelmann, Roberta D, additional, Siegel, Daniel Mark, additional, Silapunt, Sirunya, additional, Soon, Seaver L, additional, Soriano, Teresa T, additional, Spencer, James M, additional, Squires, Jeffrey A, additional, Stasko, Thomas, additional, Swanson, Neil A, additional, Tanzi, Elizabeth L, additional, Taylor, R Stan, additional, Troilius, Agneta, additional, Tsao, Sandy S, additional, Tull, Stacey, additional, Vidimos, Allison T, additional, Washington, Carl V, additional, Weber, Paul J, additional, Weiss, Robert A, additional, Weitzul, Sarah, additional, Whitaker, Duane C, additional, and Zitelli, John A, additional
Published: 2005
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42. Repair of the Split Earlobe, Ear Piercing, and Earlobe Reduction

Author: Silapunt, Sirunya, primary and Goldberg, Leonard H, additional
Published: 2005
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43. Histiocyte-rich rhabdomyoblastic tumor of the trunk

Author: Maya J. Sinai, Howard L. Martin, Sonal A. Parikh, Madeline Frizzell, Nhan M. Nguyen, and Leonard H. Goldberg
Subjects: Pathology, medicine.medical_specialty, tumor, business.industry, Case Report, Dermatology, Rhabdomyoma, lcsh:RL1-803, medicine.disease, Trunk, malignant, rhabdomyoblastic, medicine, lcsh:Dermatology, rhabdomyoma, rhabdomyosarcoma, Rhabdomyosarcoma, business, Histiocyte
Published: 2020

44. List of Contributors

Author: Abu-Shakra, Mahmoud, primary, Achiron, Anat, additional, Adelman, Miranda K., additional, Afanasyeva, Marina, additional, Akaogi, Jun, additional, Alcocer-Varela, Jorge, additional, Amedei, Amedeo, additional, Appelmelk, Ben J., additional, Aron-Maor, Anabel, additional, Asherson, Ronald A., additional, van den Berg, Leonard H., additional, Bergman, Mathijs P., additional, Blank, M., additional, Bombardieri, Stefano, additional, Buc, Milan, additional, Bussel, James, additional, Cainelli, Francesco, additional, Cervera, Ricard, additional, Chou, Alexander J., additional, Cohen, Irun R., additional, Cohen, Pascal, additional, Acuña, J.C. Crispin, additional, Cunha-Neto, Edecio, additional, Cutolo, Maurizio, additional, David, Michael, additional, D'Elios, Mario M., additional, Del Prete, Gianfranco, additional, Denman, A.M., additional, Detrick, Barbara, additional, Doria, Andrea, additional, Dugué, C., additional, Durai, Malarvizhi, additional, Ebringer, Alan, additional, Eisenstein, Miriam, additional, Ferri, Clodoveo, additional, Frostegård, Johan, additional, Gambari, Pier Franca, additional, Garvey, Marjorie A., additional, Gershwin, M. Eric, additional, Ghirardello, Anna, additional, Giacomelli, Roberto, additional, Guiducci, Serena, additional, Fonseca, Simone Gonçalves, additional, Guilherme, Luiza, additional, Guillevin, Loïc, additional, Hafler, David A., additional, Hatemi, Gülen, additional, He, Xiao-Song, additional, Hooks, John J., additional, Iaccarino, Luca, additional, Jacobson, Steven, additional, Jansen, M.D., additional, Jara, Luis J., additional, Jun, Hee-Sook, additional, Kalil, Jorge, additional, Kapsogeorgou, Efstathia K., additional, Iwai, Leo Kei, additional, Kelly, Kindra M., additional, Krause, Ilan, additional, Krebs, Philippe, additional, Kuroda, Yoshiki, additional, Lerner, Aaron, additional, Liakos, Dimitrios A., additional, Lim, Dong-Gyun, additional, Ludewig, Burkhard, additional, Marchalonis, John J., additional, Cerinic, Marco Matucci, additional, Medina, Gabriela, additional, Miller, Stephen D., additional, Milo, Gui, additional, Mimouni, Daniel, additional, Miranda, Juan M., additional, Bilate, Angelina Morand B., additional, Moudgil, Kamal D., additional, Moutsopoulos, Haralampos M., additional, Nacionales, Dina C., additional, Navarro, Carmen, additional, Nussenblatt, Robert, additional, Pagnoux, Christian, additional, Pender, Michael P., additional, Pers, Jaques-Olivier, additional, van der Pol, W-Ludo, additional, Prummel, Mark F., additional, Quintana, Francisco J., additional, Rager-Zisman, B., additional, Rashid, Taha, additional, Reeves, Westley H., additional, Reif, Shimon, additional, Renaudineau, Yves, additional, Rose, Noel R., additional, Rovenský, Jozef, additional, Satoh, Minoru, additional, Schmidt, Reinhold E., additional, Seriolo, Bruno, additional, Severin, Marianne C., additional, Shoenfeld, Yehuda, additional, Sibilia, Jean, additional, Snider, Lisa A., additional, Soldan, Samantha S., additional, Sorge, N.M. van, additional, Steere, Allen C., additional, Stoll, Matthias, additional, Sulli, Alberto, additional, Swedo, Susan E., additional, Tishler, Moshe, additional, Tomer, Yaron, additional, Tyndall, Alan, additional, Vandenbroucke-Grauls, Christina M., additional, VanderLugt-Castaneda, Carol L., additional, Vassilopoulos, Dimitrios, additional, Vento, Sandro, additional, Vera-Lastra, Olga, additional, Villanueva, Ronald, additional, Wachsmann, Dominique, additional, Weinstock, Joel V., additional, Wick, Georg, additional, Wiersinga, Wilmar M., additional, Wilson, Clyde, additional, van de Winkel, Jan G.J., additional, Wucherpfennig, Kai W., additional, Xu, Qingbo, additional, Yazici, Hasan, additional, Yocum, David E., additional, Yoon, Ji-Won, additional, Youinou, Pierre, additional, Zampieri, Sandra, additional, and Zandman-Goddard, Gisele, additional
Published: 2004
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45. Ras regulation of cyclin-dependent immunoprecipitation kinase assays

Author: Zafonte, Brian T., primary, Amanatullah, Derek F., additional, Sage, Daniel, additional, Augenlicht, Leonard H., additional, and Pestell, Richard G., additional
Published: 2001
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46. Chapter 14 Lyme disease

Author: Sigal, Leonard H., primary
Published: 1998
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47. Role of Natural Autoantibodies in Ugandans With Rheumatic Heart Disease and HIV

Author: Gregg J. Silverman, Amy S. Nowacki, Daniel M. Huck, Leonard H. Calabrese, Robert A. Salata, Emmy Okello, Chris T. Longenecker, Isaac Ssinabulya, Grace Mirembe, Lelise Getu, and David A. Zidar
Subjects: Adult, Male, 0301 basic medicine, Adolescent, Heart disease, Human immunodeficiency virus (HIV), lcsh:Medicine, HIV Infections, Hiv testing, 030204 cardiovascular system & hematology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Child, Africa South of the Sahara, Autoantibodies, lcsh:R5-920, business.industry, Phosphorylcholine, lcsh:R, Rheumatic Heart Disease, Autoantibody, HIV, virus diseases, General Medicine, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Increased risk, Immunology, Autoimmune inflammatory disease, Female, Hiv status, business, lcsh:Medicine (General), Research Paper
Abstract: Background Rheumatic heart disease (RHD) and HIV are prevalent diseases in sub-Saharan Africa, but little is known about their potential interrelationships. The objective of this study was to assess the prevalence of protective natural autoantibodies among patients with RHD in Uganda, and to determine whether the levels of these autoantibodies are affected by HIV status. Methods Participants were grouped according to RHD and HIV status. The three control groups (RHD − HIV −, RHD − HIV +, RHD + HIV −) were age-matched to the RHD + HIV + participants. All participants underwent HIV testing and echocardiography to evaluate for RHD. Natural autoantibody levels reactive with phosphorylcholine (PC) and malondialdehyde (MDA) were measured. Findings We enrolled 220 participants; 21 with both RHD and HIV. Ages ranged from 10 to 60 years, with female predominance (144/220, 65%). After adjusting for age and gender, HIV infection and RHD were each associated with low IgM anti-PC (HIV: p, Highlights • Little is known about rheumatic heart disease (RHD) in people with HIV. • Natural autoantibodies have roles in other autoimmune and inflammatory diseases. • HIV and RHD are associated with alterations in levels of natural autoantibodies. • These alterations may impact disease pathogenesis and risk for atherosclerosis. Natural arising autoantibodies to oxidation-associated epitopes such as phosphorylcholine and malondialdehyde have been shown to modulate the initiation and progression of a range of immune-mediated inflammatory diseases including atherosclerosis and systemic lupus erythematous (SLE). This cross-sectional study examined natural autoantibodies among people with rheumatic heart disease (RHD) and HIV. It provides initial support for the hypothesis that these natural autoantibodies may be altered by HIV infection in ways that increase risk for atherosclerosis and autoimmune diseases such as RHD.
Published: 2016

48. Insulin-like growth factors and cytokines in pediatric cancer

Author: Helman, Lee J., primary and Wexler, Leonard H., additional
Published: 1997
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49. Colonic Carcinoma: A Common Tumor with Multiple Genomic Abnormalities

Author: AUGENLICHT, LEONARD H., primary and HEERDT, BARBARA G., additional
Published: 1994
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50. Becker nevus

Author: Michael P. Loosemore, Adisbeth Morales-Burgos, Elnaz F. Firoz, Bahar F. Firoz, and Leonard H. Goldberg
Published: 2018

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