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4,911 results on '"Day, John"'

1. Succession law

Author

Paul, Susan and Day, John-Luke

Published
2022

3. Learning 3D object-centric representation through prediction

Author

Day, John, Arora, Tushar, Liu, Jirui, Li, Li Erran, and Cai, Ming Bo

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Artificial Intelligence, Computer Science - Machine Learning, I.2.10, I.4.8, I.4.6, I.4.10, I.2.6
Abstract

As part of human core knowledge, the representation of objects is the building block of mental representation that supports high-level concepts and symbolic reasoning. While humans develop the ability of perceiving objects situated in 3D environments without supervision, models that learn the same set of abilities with similar constraints faced by human infants are lacking. Towards this end, we developed a novel network architecture that simultaneously learns to 1) segment objects from discrete images, 2) infer their 3D locations, and 3) perceive depth, all while using only information directly available to the brain as training data, namely: sequences of images and self-motion. The core idea is treating objects as latent causes of visual input which the brain uses to make efficient predictions of future scenes. This results in object representations being learned as an essential byproduct of learning to predict., Comment: 21 pages, 11 figures. Project webpage can be found at https://jday54.github.io/opple_site/

Published
2024

9. Planetary Exploration Horizon 2061 Report Chapter 5: Enabling technologies for planetary exploration

Author

Grande, Manuel, Guo, Linli, Blanc, Michel, Makaya, Advenit, Asmar, Sami, Atkinson, David, Bourdon, Anne, Chabert, Pascal, Chien, Steve, Day, John, Fairen, Alberto G., Freeman, Anthony, Genova, Antonio, Herique, Alain, Kofman, Wlodek, Lazio, Joseph, Mousis, Olivier, Ori, Gian Gabriele, Parro, Victor, Preston, Robert, Rodriguez-Manfredi, Jose A, Sterken, Veerle, Stephenson, Keith, Hook, Joshua Vander, Waite, Hunter, and Zine, Sonia

Subjects
Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - Earth and Planetary Astrophysics, Physics - Geophysics
Abstract

The main objective of this chapter is to present an overview of the different areas of key technologies that will be needed to fly the technically most challenging of the representative missions identified in chapter 4 (the Pillar 2 Horizon 2061 report). It starts with a description of the future scientific instruments which will address the key questions of Horizon 2061 described in chapter 3 (the Pillar 1 Horizon 2061 report) and the new technologies that the next generations of space instruments will require (section 2). From there, the chapter follows the line of logical development and implementation of a planetary mission: section 3 describes some of the novel mission architectures that will be needed and how they will articulate interplanetary spacecraft and science platforms; section 4 summarizes the system-level technologies needed: power, propulsion, navigation, communication, advanced autonomy on board planetary spacecraft; section 5 describes the diversity of specialized science platforms that will be needed to survive, operate and return scientific data from the extreme environments that future missions will target; section 6 describes the new technology developments that will be needed for long-duration missions and semi-permanent settlements; finally, section 7 attempts to anticipate on the disruptive technologies that should emerge and progressively prevail in the decades to come to meet the long-term needs of future planetary missions., Comment: 100 pages, 23 figures, Horizon 2061 is a science-driven, foresight exercise, for future scientific investigations

Published
2023

10. Histology of the Porous Oculomotorius: Relevance to Anterior Skull Base Approaches

Author

Rennert, Robert C, Goodwill, Vanessa, Steinberg, Jeffrey A, Fukushima, Takanori, Day, John D, Khalessi, Alexander A, and Levy, Michael L

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, oculomotor nerve, cavernous sinus, histology, porous oculomotorius, Clinical Sciences, Neurology & Neurosurgery, Dentistry
Abstract

Objective  Mobilization of cranial nerve III (CNIII) at its dural entry site is commonly described to avoid damage from stretching during approaches to the parasellar, infrachiasmatic, posterior clinoid, and cavernous sinus regions. The histologic relationships of CNIII as it traverses the dura, and the associated surgical implications are nonetheless poorly described. We herein assess the histology of the CNIII-dura interface as it relates to surgical mobilization of the nerve. Methods  A fronto-orbitozygomatic temporopolar approach was performed on six adult cadaveric specimens. The CNIII-dural entry site was resected and histologically processed. The nerve-tissue planes were assessed by a neuropathologist. Results  Histologic analysis demonstrated that CNIII remained separate from the dura within the oculomotor cistern (porous oculomotorius up to the oculomotor foramen). Fusion of the epineurium of CNIII and the connective tissue of the dura was seen at the level of the foramen, with no clear histologic plane identified between these structures. Conclusion  CNIII may be directly mobilized within the oculomotor cistern, while dissections of CNIII distal to the oculomotor foramen should maintain a thin layer of connective tissue on the nerve.

Published
2023

11. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M, Montes, Jaqueline, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2024
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15. Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

Author

Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K, Mayhew, Anna G, Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E, Feng, Jia, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha‐Goebel, Diana X, Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R, Bushby, Kate, Consortium, The Jain COS, Bourke, John, and Straub, Volker

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Cardiovascular, Heart Disease, Lung, Clinical Research, Electrocardiography, Female, Humans, Longitudinal Studies, Male, Muscular Dystrophies, Limb-Girdle, Phenotype, Jain COS Consortium, Miyoshi myopathy, cardiac, dysferlin, limb girdle muscular dystrophy R2, respiratory, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences
Abstract

Introduction/aimsThere is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.MethodsAs part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and cardiac function were collected twice, with a 3-y interval between tests, in 188 genetically confirmed patients aged 11-86 y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo).ResultsMean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year 3, including ambulant participants. ECGs showed P-wave abnormalities indicative of delayed trans-atrial conduction in 58% of patients at baseline, representing a risk for developing atrial flutter or fibrillation. The prevalence of impaired left ventricular function or hypertrophy was comparable to that in the general population.DiscussionThese results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.

Published
2022

16. Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

Author

Waldrop, Megan A, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Medne, Livja, Finkel, Richard, Connolly, Anne M, Crawford, Thomas O, Drachman, Daniel, Wein, Nicolas, Habib, Ali A, Krzesniak-Swinarska, Monika A, Zaidman, Craig M, Collins, James J, Jokela, Manu, Udd, Bjarne, Day, John W, Ortiz-Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J, Dunn, Diane M, Weiss, Robert B, and Flanigan, Kevin M

Subjects
Humans, Muscular Dystrophy, Duchenne, Dystrophin, RNA Splice Sites, Mutation, Introns, Becker muscular dystrophy, Duchenne muscular dystrophy, deep intronic, pseudoexon, telescripting, transcription termination, Muscular Dystrophy, Biotechnology, Human Genome, Genetics, Intellectual and Developmental Disabilities (IDD), Duchenne/ Becker Muscular Dystrophy, Brain Disorders, Rare Diseases, Pediatric, Musculoskeletal, Clinical Sciences, Genetics & Heredity
Abstract

DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an important diagnostic step for patients who have negative genomic testing but abnormal dystrophin expression in muscle. In this study, muscle biopsies were evaluated from 19 patients with clinical features of a dystrophinopathy, but negative clinical DMD mutation analysis. Reverse transcription-polymerase chain reaction or high-throughput RNA sequencing methods identified 19 mutations with one of three pathogenic pseudoexon types: deep intronic point mutations, deletions or insertions, and translocations. In association with point mutations creating intronic splice acceptor sites, we observed the first examples of DMD pseudo 3'-terminal exon mutations causing high efficiency transcription termination within introns. This connection between splicing and premature transcription termination is reminiscent of U1 snRNP-mediating telescripting in sustaining RNA polymerase II elongation across large genes, such as DMD. We propose a novel classification of three distinct types of mutations identifiable by muscle RNA analysis, each of which differ in potential treatment approaches. Recognition and appropriate characterization may lead to therapies directed toward full-length dystrophin expression for some patients.

Published
2022

19. Global dataset of soil organic carbon in tidal marshes

Author

Maxwell, Tania L., Rovai, André S., Adame, Maria Fernanda, Adams, Janine B., Álvarez-Rogel, José, Austin, William E. N., Beasy, Kim, Boscutti, Francesco, Böttcher, Michael E., Bouma, Tjeerd J., Bulmer, Richard H., Burden, Annette, Burke, Shannon A., Camacho, Saritta, Chaudhary, Doongar R., Chmura, Gail L., Copertino, Margareth, Cott, Grace M., Craft, Christopher, Day, John, de los Santos, Carmen B., Denis, Lionel, Ding, Weixin, Ellison, Joanna C., Ewers Lewis, Carolyn J., Giani, Luise, Gispert, Maria, Gontharet, Swanne, González-Pérez, José A., González-Alcaraz, M. Nazaret, Gorham, Connor, Graversen, Anna Elizabeth L., Grey, Anthony, Guerra, Roberta, He, Qiang, Holmquist, James R., Jones, Alice R., Juanes, José A., Kelleher, Brian P., Kohfeld, Karen E., Krause-Jensen, Dorte, Lafratta, Anna, Lavery, Paul S., Laws, Edward A., Leiva-Dueñas, Carmen, Loh, Pei Sun, Lovelock, Catherine E., Lundquist, Carolyn J., Macreadie, Peter I., Mazarrasa, Inés, Megonigal, J. Patrick, Neto, Joao M., Nogueira, Juliana, Osland, Michael J., Pagès, Jordi F., Perera, Nipuni, Pfeiffer, Eva-Maria, Pollmann, Thomas, Raw, Jacqueline L., Recio, María, Ruiz-Fernández, Ana Carolina, Russell, Sophie K., Rybczyk, John M., Sammul, Marek, Sanders, Christian, Santos, Rui, Serrano, Oscar, Siewert, Matthias, Smeaton, Craig, Song, Zhaoliang, Trasar-Cepeda, Carmen, Twilley, Robert R., Van de Broek, Marijn, Vitti, Stefano, Antisari, Livia Vittori, Voltz, Baptiste, Wails, Christy N., Ward, Raymond D., Ward, Melissa, Wolfe, Jaxine, Yang, Renmin, Zubrzycki, Sebastian, Landis, Emily, Smart, Lindsey, Spalding, Mark, and Worthington, Thomas A.

Published
2023
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20. Maturation of the internal auditory canal and posterior petrous bone with relevance to lateral and posterolateral skull base approaches.

Author

Rennert, Robert C, Brandel, Michael G, Steinberg, Jeffrey A, Friedman, Rick A, Couldwell, William T, Fukushima, Takanori, Day, John D, Khalessi, Alexander A, and Levy, Michael L

Subjects
Skull Base, Petrous Bone, Semicircular Canals, Humans, Tomography, X-Ray Computed, Adolescent, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Hematology, Rare Diseases, Pediatric
Abstract

Anatomic knowledge of the internal auditory canal (IAC) and surrounding structures is a prerequisite for performing skull base approaches to the IAC. We herein perform a morphometric analysis of the IAC and surgically relevant aspects of the posterior petrous bone during pediatric maturation, a region well-studied in adults but not children. Measurements of IAC length (IAC-L), porus (IAC-D) and midpoint (IAC-DM) diameter, and distance from the porus to the common crus (CC; P-CC) and posterior petrosal surface (PPS) to the posterior semicircular canal (PSC; PPS-PSC) were made on thin-cut axial CT scans from 60 patients (grouped by ages 0-3, 4-7, 8-11 12-15, 16-18, and > 18 years). IAC-L increased 27.5% from 8.7 ± 1.1 at age 0-3 to 11.1 ± 1.1 mm at adulthood (p = 0.001), with the majority of growth occurring by ages 8-11. IAC-D (p = 0.52) and IAC-DM (p = 0.167) did not significantly change from ages 0-3 to adult. P-CC increased 31.1% from 7.7 ± 1.5 at age 0-3 to 10.1 ± 1.5 mm at adulthood (p = 0.019). PPS-PSC increased 160% from 1.5 ± 0.7 at age 0-3 to 3.9 ± 1.2 mm at adulthood (p

Published
2022

23. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

Author

Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, and Mercuri, Eugenio

Published
2023
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24. Long-term efficacy and safety of a treatment strategy for HIV infection using protease inhibitor monotherapy: 8-year routine clinical care follow-up from a randomised, controlled, open-label pragmatic trial (PIVOT)

Author

Fisher, Martin, Clarke, Amanda, Hadley, Wendy, Stacey, David, Johnson, Margaret, Byrne, Pat, Williams, Ian, De Esteban, Nahum, Pellegrino, Pierre, Haddow, Lewis, Arenas-Pinto, Alejandro, Orkin, Chloe, Hand, James, De Souza, Carl, Murthen, Lisa, Crawford-Jones, Andrew, Chen, Fabian, Wilson, Ruth, Green, Elizabeth, Masterson, John, Lee, Vincent, Patel, Kamlesh, Howe, Rebecca, Winston, Alan, Mullaney, Scott, Gompels, Mark, Jennings, Louise, Beeching, Nicholas, Tamaklo, Rebecca, Fox, Julie, Teague, Alistair, Jendrulek, Isabelle, Tiraboschi, Juan Manuel, Wilkins, Ed, Clowes, Yvonne, Thompson, Andrew, Brook, Gary, Trivedi, Manoj, Aderogba, Kazeem, Jones, Martin, DeBurgh-Thomas, Andrew, Jones, Liz, Reeves, Iain, Mguni, Sifiso, Chadwick, David, Spence, Pauline, Nkhoma, Nellie, Warwick, Zoe, Price, Suzanne, Read, Sally, Herieka, Elbushra, Walker, James, Woodward, Ruth, Day, John, Hilton, Laura, Harinda, Veerakathy, Blackman, Helen, Hay, Phillip, Mejewska, Wendy, Okolo, Olanike, Ong, Edmund, Martin, Karen, Munro, Lee, Dockrell, David, Smart, Lynne, Ainsworth, Jonathan, Waters, Anele, Kegg, Stephen, McNamara, Sara, Taylor, Steve, Gilleran, Gerry, Gazzard, Brian, Rowlands, Jane, Allan, Sris, Sandhu, Rumun, O'Farrell, Nigel, Quaid, Sheena, Martin, Fabiola, Bennett, Caroline, Kapembwa, Moses, Minton, Jane, Calderwood, James, Post, Frank, Campbell, Lucy, Wandolo, Emily, Palfreeman, Adrian, Mashonganyika, Linda, Balachandran, Thambiah, Kakowa, Memory, O'Connell, Rebecca, Tanawa, Cheryl, Jebakumar, Sinna, Hagger, Lesley, Quah, Say, McKernan, Sinead, Lacey, Charles, Douglas, Sarah, Russell-Sharpe, Sarah, Brewer, Christine, Leen, Clifford, Morris, Sheila, Obeyesekera, Sharmin, Williams, Shirley, David, Nelson, Roberts, Mark, Wollaston, Julie, Paton, Nicholas, Stöhr, Wolfgang, Scott, Karen, Dunn, David, Beaumont, Emma, Fleck, Sue, Hall, Mark, Hennings, Susie, Kummeling, Ischa, Martins, Sara, Owen-Powell, Ellen, Sanders, Karen, van Hooff, Fionna, Vivas, Livia, White, Ellen, Angus, Brian, Freedman, Andrew, Cromerty, Ben, Mercey, Danielle, Fidler, Sarah, Torok, Estee, Babiker, Abdel, Peto, Tim, Lalloo, David, Phillips, Andrew, James, Robert, Paton, Nicholas I., and Dunn, David T.

Published
2024
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26. Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes

Author

Chang, Alex CY, Pardon, Gaspard, Chang, Andrew CH, Wu, Haodi, Ong, Sang-Ging, Eguchi, Asuka, Ancel, Sara, Holbrook, Colin, Ramunas, John, Ribeiro, Alexandre JS, LaGory, Edward L, Wang, Honghui, Koleckar, Kassie, Giaccia, Amato, Mack, David L, Childers, Martin K, Denning, Chris, Day, John W, Wu, Joseph C, Pruitt, Beth L, and Blau, Helen M

Subjects
Biochemistry and Cell Biology, Biological Sciences, Orphan Drug, Pediatric, Muscular Dystrophy, Brain Disorders, Rare Diseases, Duchenne/ Becker Muscular Dystrophy, Cardiovascular, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell, Bioengineering, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Biomarkers, Cardiomyopathies, Cell Differentiation, Cells, Cultured, Cellular Microenvironment, Culture Media, Conditioned, Fibrosis, Fluorescent Antibody Technique, Gene Expression, Humans, Immunophenotyping, Induced Pluripotent Stem Cells, Mechanical Phenomena, Muscular Dystrophies, Muscular Dystrophy, Duchenne, Myocardial Contraction, Myocytes, Cardiac, Telomere Shortening, DMD, dilated cardiomyopathy, fibrosis, hiPSC-CM, telomere, Clinical Sciences, Biochemistry and cell biology
Abstract

Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disease that is associated with severe progressive muscle degeneration culminating in death due to cardiorespiratory failure. We previously observed an unexpected proliferation-independent telomere shortening in cardiomyocytes of a DMD mouse model. Here, we provide mechanistic insights using human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Using traction force microscopy, we show that DMD hiPSC-CMs exhibit deficits in force generation on fibrotic-like bioengineered hydrogels, aberrant calcium handling, and increased reactive oxygen species levels. Furthermore, we observed a progressive post-mitotic telomere shortening in DMD hiPSC-CMs coincident with downregulation of shelterin complex, telomere capping proteins, and activation of the p53 DNA damage response. This telomere shortening is blocked by blebbistatin, which inhibits contraction in DMD cardiomyocytes. Our studies underscore the role of fibrotic stiffening in the etiology of DMD cardiomyopathy. In addition, our data indicate that telomere shortening is progressive, contraction dependent, and mechanosensitive, and suggest points of therapeutic intervention.

Published
2021

27. Advancing the Scientific Frontier with Increasingly Autonomous Systems

Author

Amini, Rashied, Azari, Abigail, Bhaskaran, Shyam, Beauchamp, Patricia, Castillo-Rogez, Julie, Castano, Rebecca, Chung, Seung, Day, John, Doyle, Richard, Feather, Martin, Fesq, Lorraine, Frank, Jeremy, Furlong, P. Michael, Ingham, Michel, Kennedy, Brian, Kolcio, Ksenia, Nesnas, Issa, Rasmussen, Robert, Reeves, Glenn, Sorice, Cristina, Theiling, Bethany, and Wyatt, Jay

Subjects
Astrophysics - Instrumentation and Methods for Astrophysics, Computer Science - Artificial Intelligence
Abstract

A close partnership between people and partially autonomous machines has enabled decades of space exploration. But to further expand our horizons, our systems must become more capable. Increasing the nature and degree of autonomy - allowing our systems to make and act on their own decisions as directed by mission teams - enables new science capabilities and enhances science return. The 2011 Planetary Science Decadal Survey (PSDS) and on-going pre-Decadal mission studies have identified increased autonomy as a core technology required for future missions. However, even as scientific discovery has necessitated the development of autonomous systems and past flight demonstrations have been successful, institutional barriers have limited its maturation and infusion on existing planetary missions. Consequently, the authors and endorsers of this paper recommend that new programmatic pathways be developed to infuse autonomy, infrastructure for support autonomous systems be invested in, new practices be adopted, and the cost-saving value of autonomy for operations be studied., Comment: 10 pages (compared to 8 submitted to PSADS), 2 figures, submitted to National Academy of Sciences Planetary Science and Astrobiology Decadal Survey 2023-2032

Published
2020
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28. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.

Author

Rudnicki, Stacy A, Andrews, Jinsy A, Duong, Tina, Cockroft, Bettina M, Malik, Fady I, Meng, Lisa, Wei, Jenny, Wolff, Andrew A, Genge, Angela, Johnson, Nicholas E, Tesi-Rocha, Carolina, Connolly, Anne M, Darras, Basil T, Felice, Kevin, Finkel, Richard S, Shieh, Perry B, Mah, Jean K, Statland, Jeffrey, Campbell, Craig, Habib, Ali A, Kuntz, Nancy L, Oskoui, Maryam, and Day, John W

Subjects
Muscle, Skeletal, Humans, Muscular Atrophy, Spinal, Troponin I, Drugs, Investigational, Cohort Studies, Double-Blind Method, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Young Adult, Walk Test, Reldesemtiv, pharmacodynamics, pharmacokinetics, six-minute walk test, spinal muscular atrophy clinical trial, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, 6.1 Pharmaceuticals, Neurosciences, Pharmacology and Pharmaceutical Sciences, Public Health and Health Services, Neurology & Neurosurgery
Abstract

This phase 2, double-blind, placebo-controlled, hypothesis-generating study evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients with spinal muscular atrophy (SMA). Patients ≥ 12 years of age with type II, III, or IV SMA were randomized into 2 sequential, ascending reldesemtiv dosing cohorts (cohort 1: 150 mg bid or placebo [2:1]; cohort 2: 450 mg bid or placebo [2:1]). The primary objective was to determine potential pharmacodynamic effects of reldesemtiv on 8 outcome measures in SMA, including 6-minute walk distance (6MWD) and maximum expiratory pressure (MEP). Changes from baseline to weeks 4 and 8 were determined. Pharmacokinetics and safety were also evaluated. Patients were randomized to reldesemtiv 150 mg, 450 mg, or placebo (24, 20, and 26, respectively). The change from baseline in 6MWD was greater for reldesemtiv 450 mg than for placebo at weeks 4 and 8 (least squares [LS] mean difference, 35.6 m [p = 0.0037] and 24.9 m [p = 0.058], respectively). Changes from baseline in MEP at week 8 on reldesemtiv 150 and 450 mg were significantly greater than those on placebo (LS mean differences, 11.7 [p = 0.038] and 13.2 cm H2O [p = 0.03], respectively). For 6MWD and MEP, significant changes from placebo were seen in the highest reldesemtiv peak plasma concentration quartile (Cmax > 3.29 μg/mL; LS mean differences, 43.3 m [p = 0.010] and 28.8 cm H2O [p = 0.0002], respectively). Both dose levels of reldesemtiv were well tolerated. Results suggest reldesemtiv may offer clinical benefit and support evaluation in larger SMA patient populations.

Published
2021

31. Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)

Author

Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, and Mercuri, Eugenio

Published
2023
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32. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
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34. Contributors

Author

Alves, Jorge, primary, Ammannito, Eleonora, additional, André, Nicolas, additional, Arrigo, Gabriella, additional, Asmar, Sami, additional, Atkinson, David, additional, Autino, Adriano, additional, Beck, Pierre, additional, Berger, Gilles, additional, Blanc, Michel, additional, Bolton, Scott, additional, Bourdon, Anne, additional, Bousquet, Pierre, additional, Bunce, Emma, additional, Capria, Maria Teresa, additional, Chabert, Pascal, additional, Charnoz, Sébastien, additional, Chide, Baptiste, additional, Chien, Steve, additional, Cinelli, Ilaria, additional, Day, John, additional, Dehant, Véronique, additional, Demory, Brice, additional, Domagal-Goldman, Shawn, additional, Dorn, Caroline, additional, Fairén, Alberto G., additional, Filice, Valerio, additional, Fletcher, Leigh N., additional, Foing, Bernard, additional, Forget, François, additional, Freeman, Anthony, additional, Gaudi, B. Scott, additional, Genova, Antonio, additional, Grande, Manuel, additional, Green, James, additional, Griton, Léa, additional, Guo, Linli, additional, Hammel, Heidi, additional, Heinicke, Christiane, additional, Helled, Ravit, additional, Heng, Kevin, additional, Herique, Alain, additional, Höning, Dennis, additional, Hook, Joshua Vander, additional, Hutzler, Aurore, additional, Imamura, Takeshi, additional, Jackman, Caitriona, additional, Kaspi, Yohai, additional, Kim, Jyeong Ja, additional, Kitzman, Daniel, additional, Kofman, Wlodek, additional, Kokubo, Eiichiro, additional, Korablev, Oleg, additional, Lasue, Jérémie, additional, Lazio, Joseph, additional, Leconte, Jérémy, additional, Lellouch, Emmanuel, additional, Le Sergeant d'Hendecourt, Louis, additional, Lewis, Jonathan, additional, Li, Ming, additional, Mackwell, Steve, additional, Madi, Mohammad, additional, Makaya, Advenit, additional, Mangold, Nicolas, additional, Marty, Bernard, additional, Maurice, Sylvestre, additional, McNutt, Ralph, additional, Michel, Patrick, additional, Morbidelli, Alessandro, additional, Mordasini, Christoph, additional, Mousis, Olivier, additional, Nesvorny, David, additional, Noack, Lena, additional, Onoda, Masami, additional, Opher, Merav, additional, Ori, Gian Gabriele, additional, Owen, James, additional, Paranicas, Chris, additional, Parro, Victor, additional, Perino, Maria Antonietta, additional, Plainaki, Christina, additional, Preston, Robert, additional, Prieto-Ballesteros, Olga, additional, Qin, Liping, additional, Quanz, Sascha, additional, Rauer, Heike, additional, Rodriguez-Manfredi, Jose A., additional, Schmidt, Juergen, additional, Senske, Dave, additional, Snellen, Ignas, additional, Soderlund, Krista M., additional, Sotin, Christophe, additional, Spilker, Linda, additional, Spohn, Tilman, additional, Stephenson, Keith, additional, Sterken, Veerle J., additional, Testi, Leonardo, additional, Tosi, Nicola, additional, Toukaku, Yoshio, additional, Udry, Stéphane, additional, Vandaele, Ann C., additional, Vazan, Allona, additional, Venturini, Julia, additional, Vernazza, Pierre, additional, Waite, J. Hunter, additional, Wambsganss, Joachim, additional, Wedler, Armin, additional, Westall, Frances, additional, Zarka, Philippe, additional, Zine, Sonia, additional, and Zong, Qiugang, additional

Published
2023
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35. Enabling technologies for planetary exploration

Author

Grande, Manuel, primary, Guo, Linli, additional, Blanc, Michel, additional, Alves, Jorge, additional, Makaya, Advenit, additional, Asmar, Sami, additional, Atkinson, David, additional, Bourdon, Anne, additional, Chabert, Pascal, additional, Chien, Steve, additional, Day, John, additional, Fairén, Alberto G., additional, Freeman, Anthony, additional, Genova, Antonio, additional, Herique, Alain, additional, Kofman, Wlodek, additional, Lazio, Joseph, additional, Mousis, Olivier, additional, Ori, Gian Gabriele, additional, Parro, Victor, additional, Preston, Robert, additional, Rodriguez-Manfredi, Jose A., additional, J. Sterken, Veerle, additional, Stephenson, Keith, additional, Hook, Joshua Vander, additional, Waite, J. Hunter, additional, and Zine, Sonia, additional

Published
2023
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37. Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern

Author

Llansó, Laura, Moore, Ursula, Bolano-Diaz, Carla, James, Meredith, Blamire, Andrew M., Carlier, Pierre G., Rufibach, Laura, Gordish-Dressman, Heather, Boyle, Georgina, Hilsden, Heather, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, and Díaz-Manera, Jordi

Published
2023
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38. Procedural Patterns and Safety of Atrial Fibrillation Ablation: Findings From Get With The Guidelines-Atrial Fibrillation.

Author

Loring, Zak, Holmes, DaJuanicia N, Matsouaka, Roland A, Curtis, Anne B, Day, John D, Desai, Nihar, Ellenbogen, Kenneth A, Feld, Gregory K, Fonarow, Gregg C, Frankel, David S, Hurwitz, Jodie L, Knight, Bradley P, Joglar, Jose A, Russo, Andrea M, Sidhu, Mandeep S, Turakhia, Mintu P, Lewis, William R, and Piccini, Jonathan P

Subjects
Pulmonary Veins, Humans, Atrial Fibrillation, Postoperative Complications, Catheter Ablation, Treatment Outcome, Cryosurgery, Registries, Time Factors, Aged, Middle Aged, Guideline Adherence, United States, Female, Male, Practice Guidelines as Topic, Practice Patterns, Physicians', atrial fibrillation, catheter ablation, guideline adherence, hypertension, pulmonary vein, Cardiovascular, Clinical Research, Heart Disease, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Medical Physiology, Cardiovascular System & Hematology
Abstract

BackgroundCatheter ablation is an increasingly used treatment for symptomatic atrial fibrillation (AF). However, there are limited prospective, nationwide data on patient selection and procedural characteristics. This study describes patient characteristics, techniques, treatment patterns, and safety outcomes of patients undergoing AF ablation.MethodsA total of 3139 patients undergoing AF ablation between 2016 and 2018 in the Get With The Guidelines-Atrial Fibrillation registry from 24 US centers were included. Patient demographics, medical history, procedural details, and complications were abstracted. Differences between paroxysmal and patients with persistent AF were compared using Pearson χ2 and Wilcoxon rank-sum tests.ResultsPatients undergoing AF ablation were predominantly male (63.9%) and White (93.2%) with a median age of 65. Hypertension was the most common comorbidity (67.6%), and patients with persistent AF had more comorbidities than patients with paroxysmal AF. Drug refractory, paroxysmal AF was the most common ablation indication (class I, 53.6%) followed by drug refractory, persistent AF (class I, 41.8%). Radiofrequency ablation with contact force sensing was the most common ablation modality (70.5%); 23.7% of patients underwent cryoballoon ablation. Pulmonary vein isolation was performed in 94.6% of de novo ablations; the most common adjunctive lesions included left atrial roof or posterior/inferior lines, and cavotricuspid isthmus ablation. Complications were uncommon (5.1%) and were life-threatening in 0.7% of cases.ConclusionsMore than 98% of AF ablations among participating sites are performed for class I or class IIA indications. Contact force-guided radiofrequency ablation is the dominant technique and pulmonary vein isolation the principal lesion set. In-hospital complications are uncommon and rarely life-threatening.

Published
2020

41. Introduction

Author

Day, John W., Hunter, Rachael G., Clark, H. C., Day, J. W., editor, Hunter, R. G., editor, and Clark, H. C., editor

Published
2022
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43. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Author

Kishnani, Priya S, Gibson, James B, Gambello, Michael J, Hillman, Richard, Stockton, David W, Kronn, David, Leslie, Nancy D, Pena, Loren DM, Tanpaiboon, Pranoot, Day, John W, Wang, Raymond Y, Goldstein, Jennifer L, An Haack, Kristina, Sparks, Susan E, Zhao, Yang, and Hahn, Si Houn

Subjects
Biological Sciences, Genetics, Digestive Diseases, Clinical Research, Liver Disease, Chronic Liver Disease and Cirrhosis, Pediatric, Adolescent, Child, Child, Preschool, Cohort Studies, Enzyme Replacement Therapy, Female, Genotype, Glycogen Storage Disease Type II, Humans, Infant, Male, Phenotype, Prospective Studies, United States, alpha-Glucosidases, alglucosidase alfa, glycogenosis type 2, GAA pathogenic variants, infantile-onset Pompe disease, late-onset Pompe disease, Pompe ADVANCE Study Consortium, Clinical Sciences, Genetics & Heredity
Abstract

PurposeTo characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date.MethodsPatients aged ≥1 year with confirmed Pompe disease previously receiving 160 L alglucosidase alfa were eligible. GAA genotypes were determined before/at enrollment. Baseline assessments included histories/physical exams, Gross Motor Function Measure-88 (GMFM-88), pulmonary function tests, and cardiac assessments.ResultsOf 113 enrollees (60 male/53 female) aged 1-18 years, 87 had infantile-onset Pompe disease (IOPD) and 26 late-onset (LOPD). One hundred eight enrollees with GAA genotypes had 215 pathogenic variants (220 including combinations): 118 missense (4 combinations), 23 splice, 35 nonsense, 34 insertions/deletions, 9 duplications (1 combination), 6 other; c.2560C>T (n = 23), c.-32-13T>G (n = 13), and c.525delT (n = 12) were most common. Four patients had previously unpublished variants, and 14/83 (17%) genotyped IOPD patients were cross-reactive immunological material-negative. All IOPD and 6/26 LOPD patients had cardiac involvement, all without c.-32-13T>G. Thirty-two (26 IOPD, 6 LOPD) were invasively ventilated. GMFM-88 total %scores (mean ± SD, median, range): overall 46.3 ± 33.0% (47.9%, 0.0-100.0%), IOPD 41.6 ± 31.64% (38.9%, 0.0-99.7%), LOPD: 61.8 ± 33.2 (70.9%, 0.0-100.0%).ConclusionADVANCE, a uniformly assessed cohort comprising most US children and adolescents with treated Pompe disease, expands understanding of the phenotype and observed variants in the United States.

Published
2019

44. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial

Author

Thornton, Charles A, Moxley, Richard Thomas, III, Eichinger, Katy, Heatwole, Chad, Mignon, Laurence, Arnold, W David, Ashizawa, Tetsuo, Day, John W, Dent, Gersham, Tanner, Matthew K, Duong, Tina, Greene, Ericka P, Herbelin, Laura, Johnson, Nicholas E, King, Wendy, Kissel, John T, Leung, Doris G, Lott, Donovan J, Norris, Daniel A, Pucillo, Evan M, Schell, Wendy, Statland, Jeffrey M, Stinson, Nikia, Subramony, Sub H, Xia, Shuting, Bishop, Kathie M, and Bennett, C Frank

Published
2023
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45. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy

Author

Moore, Ursula, Fernández-Simón, Esther, Schiava, Marianela, Cox, Dan, Gordish-Dressman, Heather, James, Meredith K., Mayhew, Anna, Wilson, Ian, Guglieri, Michela, Rufibach, Laura, Blamire, Andrew, Carlier, Pierre G., Mori-Yoshimura, Madoka, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Diaz-Manera, Jordi, and Straub, Volker

Published
2023
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48. Co-located ecological data for exploring top- and subsoil carbon dynamics across grassland-woodland contrasts

Author

Reinsch, Sabine, primary, Lebron, Inma, additional, Brentegani, Michele, additional, Brooks, Milo, additional, Busi, Susheel Bhanu, additional, Cagnarini, Claudia, additional, Cooper, David, additional, Day, John, additional, Emmett, Bridget A., additional, Fitos, Eleonora, additional, Goodall, Tim, additional, Griffiths, Robert, additional, Jones, Briony, additional, Keenan, Patrick, additional, Keith, Aidan, additional, Lopes-Mazzetto, Josiane M., additional, Mason, Kelly E., additional, Pallett, Denise, additional, Pereira, M. Glória, additional, Pinder, Adam, additional, Robinson, David A., additional, Smart, Simon M., additional, Thomas, Amy, additional, Benham, Sue, additional, Vanguelova, Elena, additional, and Cosby, Bernhard J., additional

Published
2024
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49. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

McGrattan, Katlyn, primary, Cerchiari, Antonella, additional, Conway, Eleanor, additional, Berti, Beatrice, additional, Finkel, Richard, additional, Muntoni, Francesco, additional, Mercuri, Eugenio, additional, Fanelli, Lavinia, additional, Coratti, Giorgia, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Trucco, Federica, additional, Latini, Sofia, additional, Bertini, Enrico, additional, d'Amico, Adele, additional, Doglio, Luca, additional, Stimpson, Georgia, additional, Baranello, Giovanni, additional, Scoto, Mariacristina, additional, Rohwer, Annemarie, additional, Edel, Lisa, additional, Lofra, Robert Muni, additional, Bettolo, Chiara Marini, additional, Young, Sally Dunaway, additional, Day, John, additional, Duong, Tina, additional, Darras, Basil, additional, Pasternak, Amy, additional, Montes, Jacqueline, additional, Rodriguez-Torres, Ralph, additional, Chiriboga, Claudia A., additional, Hirano, Michio, additional, Civitello, Matthew, additional, Cunningham, Zarazuela Zolkipli, additional, Brandsema, John, additional, Mayer, Hank, additional, Glanzmann, Allan, additional, Karagiannis, Joannis, additional, Baldinetti, Francesca, additional, Khader, Leila, additional, Costa, Patrizia, additional, Lovato, Valeria, additional, and Rastelletti, Irene, additional

Published
2024
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50. Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility

Author

Harding, Elizabeth R., primary, Kanner, Cara H., additional, Pasternak, Amy, additional, Glanzman, Allan M., additional, Dunaway Young, Sally, additional, Rao, Ashwini K., additional, McDermott, Michael P., additional, Zolkipli-Cunningham, Zarazuela, additional, Day, John W., additional, Finkel, Richard S., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, and Montes, Jacqueline, additional

Published
2024
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