1,395 results on '"Wenning, Gregor K"'
Search Results
2. EFAS/EAN survey on the influence of the COVID-19 pandemic on European clinical autonomic education and research
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Fanciulli, Alessandra, Skorić, Magdalena Krbot, Leys, Fabian, Carneiro, Diogo Reis, Campese, Nicole, Calandra-Buonaura, Giovanna, Camaradou, Jennifer, Chiaro, Giacomo, Cortelli, Pietro, Falup-Pecurariu, Cristian, Granata, Roberta, Guaraldi, Pietro, Helbok, Raimund, Hilz, Max J., Iodice, Valeria, Jordan, Jens, Kaal, Evert C. A., Kamondi, Anita, Le Traon, Anne Pavy, Rocha, Isabel, Sellner, Johann, Senard, Jean Michel, Terkelsen, Astrid, Wenning, Gregor K., Moro, Elena, Berger, Thomas, Thijs, Roland D., Struhal, Walter, and Habek, Mario
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- 2023
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3. A Review on the Clinical Diagnosis of Multiple System Atrophy
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Stankovic, Iva, Fanciulli, Alessandra, Sidoroff, Victoria, and Wenning, Gregor K.
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- 2023
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4. The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy
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Wenning, Gregor K, Stankovic, Iva, Vignatelli, Luca, Fanciulli, Alessandra, Calandra‐Buonaura, Giovanna, Seppi, Klaus, Palma, Jose‐Alberto, Meissner, Wassilios G, Krismer, Florian, Berg, Daniela, Cortelli, Pietro, Freeman, Roy, Halliday, Glenda, Höglinger, Günter, Lang, Anthony, Ling, Helen, Litvan, Irene, Low, Phillip, Miki, Yasuo, Panicker, Jalesh, Pellecchia, Maria Teresa, Quinn, Niall, Sakakibara, Ryuji, Stamelou, Maria, Tolosa, Eduardo, Tsuji, Shoji, Warner, Tom, Poewe, Werner, and Kaufmann, Horacio
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Neurosciences ,Rare Diseases ,Prevention ,Brain Disorders ,4.1 Discovery and preclinical testing of markers and technologies ,Detection ,screening and diagnosis ,4.2 Evaluation of markers and technologies ,Brain ,Consensus ,Humans ,Magnetic Resonance Imaging ,Multiple System Atrophy ,Prospective Studies ,multiple system atrophy ,diagnostic criteria ,diagnosis ,Clinical Sciences ,Human Movement and Sports Sciences ,Neurology & Neurosurgery - Abstract
BackgroundThe second consensus criteria for the diagnosis of multiple system atrophy (MSA) are widely recognized as the reference standard for clinical research, but lack sensitivity to diagnose the disease at early stages.ObjectiveTo develop novel Movement Disorder Society (MDS) criteria for MSA diagnosis using an evidence-based and consensus-based methodology.MethodsWe identified shortcomings of the second consensus criteria for MSA diagnosis and conducted a systematic literature review to answer predefined questions on clinical presentation and diagnostic tools relevant for MSA diagnosis. The criteria were developed and later optimized using two Delphi rounds within the MSA Criteria Revision Task Force, a survey for MDS membership, and a virtual Consensus Conference.ResultsThe criteria for neuropathologically established MSA remain unchanged. For a clinical MSA diagnosis a new category of clinically established MSA is introduced, aiming for maximum specificity with acceptable sensitivity. A category of clinically probable MSA is defined to enhance sensitivity while maintaining specificity. A research category of possible prodromal MSA is designed to capture patients in the earliest stages when symptoms and signs are present, but do not meet the threshold for clinically established or clinically probable MSA. Brain magnetic resonance imaging markers suggestive of MSA are required for the diagnosis of clinically established MSA. The number of research biomarkers that support all clinical diagnostic categories will likely grow.ConclusionsThis set of MDS MSA diagnostic criteria aims at improving the diagnostic accuracy, particularly in early disease stages. It requires validation in a prospective clinical and a clinicopathological study. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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- 2022
5. Multiple system atrophy: at the crossroads of cellular, molecular and genetic mechanisms
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Stefanova, Nadia and Wenning, Gregor K.
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- 2023
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6. Laboratory-Supported Multiple System Atrophy beyond Autonomic Function Testing and Imaging: A Systematic Review by the MoDiMSA Study Group.
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Stankovic, Iva, Fanciulli, Alessandra, Kostic, Vladimir S, Krismer, Florian, Meissner, Wassilios G, Palma, Jose Alberto, Panicker, Jalesh N, Seppi, Klaus, Wenning, Gregor K, and MoDiMSA Study Group
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diagnostic tests ,multiple system atrophy - Abstract
Background: Neuroimaging has been used to support a diagnosis of possible multiple system atrophy (MSA). Only blood pressure changes upon standing are included in the second consensus criteria but other autonomic function tests (AFT) are also useful to diagnose widespread and progressive autonomic failure typical of MSA. Additional diagnostic tools are of interest to improve accuracy of MSA diagnosis. Objectives: To assess the utility of diagnostic tools beyond brain imaging and AFT in enhancing a laboratory-supported diagnosis of MSA to support the upcoming revision of the consensus criteria. Methods: The International Parkinson and Movement Disorders Society MSA Study Group (MoDiMSA) performed a systematic review of original papers on biomarkers, sleep studies, genetic, neuroendocrine, neurophysiological, neuropsychological and other tests including olfactory testing and acute levodopa challenge test published before August 2019. Results: Evaluation of history of levodopa responsiveness and olfaction is useful in patients in whom MSA-parkinsonian subtype is suspected. Neuropsychological testing is useful to exclude dementia at time of diagnosis. Applicability of sphincter EMG is limited. When MSA-cerebellar subtype is suspected, a screening for the common causes of adult-onset progressive ataxia is useful, including spinocerebellar ataxias in selected patients. Diagnosing stridor and REM sleep behavior disorder is useful in both MSA subtypes. However, none of these tools are validated in large longitudinal cohorts of postmortem confirmed MSA cases. Conclusions: Despite limited evidence, additional laboratory work-up of patients with possible MSA beyond imaging and AFT should be considered to optimize the clinical diagnostic accuracy.
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- 2021
7. Forehead and scalp gustatory sweating after temporomandibular joint surgery: an atypical presentation of Frey’s syndrome
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Caliò, Bianca, Wenning, Gregor K., Fanciulli, Alessandra, and Colosimo, Carlo
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- 2023
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8. Can Autonomic Testing and Imaging Contribute to the Early Diagnosis of Multiple System Atrophy? A Systematic Review and Recommendations by the Movement Disorder Society Multiple System Atrophy Study Group.
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Pellecchia, Maria Teresa, Stankovic, Iva, Fanciulli, Alessandra, Krismer, Florian, Meissner, Wassilios G, Palma, Jose-Alberto, Panicker, Jalesh N, Seppi, Klaus, Wenning, Gregor K, and Members of the Movement Disorder Society Multiple System Atrophy Study Group
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Members of the Movement Disorder Society Multiple System Atrophy Study Group ,diagnostic tests ,multiple system atrophy ,Neurodegenerative ,Neurosciences ,Parkinson's Disease ,Brain Disorders ,Rare Diseases ,Clinical Research ,4.1 Discovery and preclinical testing of markers and technologies ,Detection ,screening and diagnosis ,4.2 Evaluation of markers and technologies ,Neurological - Abstract
BackgroundIn the current consensus diagnostic criteria, the diagnosis of probable multiple system atrophy (MSA) is based solely on clinical findings, whereas neuroimaging findings are listed as aid for the diagnosis of possible MSA. There are overlapping phenotypes between MSA-parkinsonian type and Parkinson's disease, progressive supranuclear palsy, and dementia with Lewy bodies, and between MSA-cerebellar type and sporadic adult-onset ataxia resulting in a significant diagnostic delay and misdiagnosis of MSA during life.ObjectivesIn light of an ongoing effort to revise the current consensus criteria for MSA, the Movement Disorders Society Multiple System Atrophy Study Group performed a systematic review of original articles published before August 2019.MethodsWe included articles that studied at least 10 patients with MSA as well as participants with another disorder or control group for comparison purposes. MSA was defined by neuropathological confirmation, or as clinically probable, or clinically probable plus possible according to consensus diagnostic criteria.ResultsWe discuss the pitfalls and benefits of each diagnostic test and provide specific recommendations on how to evaluate patients in whom MSA is suspected.ConclusionsThis systematic review of relevant studies indicates that imaging and autonomic function tests significantly contribute to increasing the accuracy of a diagnosis of MSA.
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- 2020
9. The molecular tweezer CLR01 reduces aggregated, pathologic, and seeding-competent α-synuclein in experimental multiple system atrophy
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Herrera-Vaquero, Marcos, Bouquio, Danielle, Kallab, Martin, Biggs, Karl, Nair, Gayatri, Ochoa, Jessica, Heras-Garvin, Antonio, Heid, Christian, Hadrovic, Inesa, Poewe, Werner, Wenning, Gregor K, Klärner, Frank-Gerrit, Schrader, Thomas, Bitan, Gal, and Stefanova, Nadia
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Pharmacology and Pharmaceutical Sciences ,Biomedical and Clinical Sciences ,Neurodegenerative ,Brain Disorders ,Neurosciences ,Parkinson's Disease ,Development of treatments and therapeutic interventions ,5.1 Pharmaceuticals ,Neurological ,Animals ,Brain ,Bridged-Ring Compounds ,Cell Line ,Disease Models ,Animal ,Dopaminergic Neurons ,Humans ,Male ,Mice ,Multiple System Atrophy ,Neuroprotective Agents ,Organophosphates ,Protein Aggregation ,Pathological ,alpha-Synuclein ,Multiple system atrophy ,Mouse model ,Synucleinopathy ,Glial cytoplasmic inclusions ,Aggregation ,Oligomersation ,Seeding ,Neuropathology ,Biochemistry and Cell Biology ,Medical Biochemistry and Metabolomics ,Clinical Sciences ,Biochemistry & Molecular Biology ,Biochemistry and cell biology ,Medical biochemistry and metabolomics - Abstract
Multiple system atrophy (MSA) is a fatal, adult-onset neurodegenerative disorder that has no cure and very limited treatment options. MSA is characterized by deposition of fibrillar α-synuclein (α-syn) in glial cytoplasmic inclusions in oligodendrocytes. Similar to other synucleinopathies, α-syn self-assembly is thought to be a key pathologic event and a prominent target for disease modification in MSA. Molecular tweezers are broad-spectrum nanochaperones that prevent formation of toxic protein assemblies and enhance their clearance. The current lead compound, CLR01, has been shown to inhibit α-syn aggregation but has not yet been tested in the context of MSA. To fill this gap, here, we conducted a proof-of-concept study to assess the efficacy of CLR01 in remodeling MSA-like α-syn pathology in the PLP-α-syn mouse model of MSA. Six-month-old mice received intracerebroventricular CLR01 (0.3 or 1 mg/kg per day) or vehicle for 32 days. Open-field test revealed a significant, dose-dependent amelioration of an anxiety-like phenotype. Subsequently, immunohistochemical and biochemical analyses showed dose-dependent reduction of pathological and seeding-competent forms of α-syn, which correlated with the behavioral phenotype. CLR01 treatment also promoted dopaminergic neuron survival in the substantia nigra. To our knowledge, this is the first demonstration of an agent that reduces formation of putative high-molecular-weight oligomers and seeding-competent α-syn in a mouse model of MSA, supporting the view that these species are key to the neurodegenerative process and its cell-to-cell progression in MSA. Our study suggests that CLR01 is an attractive therapeutic candidate for disease modification in MSA and related synucleinopathies, supporting further preclinical development.
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- 2019
10. Contributors
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Accorsi–Mendonça, Daniela, primary, Adams, David J., additional, Allen, Andrew M., additional, Alvarenga, Marlies, additional, Ardell, Jeffrey L., additional, Arnold, Amy C., additional, Ashton, Jesse L., additional, Badrov, Mark B., additional, Ballantyne, Brennan A., additional, Bardsley, Emma N., additional, Barez-Lopez, Soledad, additional, Barman, Susan M., additional, Barrett, Carolyn J., additional, Bauer, Deborah, additional, Bell, Christopher, additional, Ben-Tal, Alona, additional, Benarroch, Eduardo E., additional, Biaggioni, Italo, additional, Brandl, Katharina, additional, Brooks, Virginia L., additional, Brown, Amy E., additional, Browning, Kirsteen N., additional, Bryarly, Meredith, additional, Camargo, Livia L., additional, Camilleri, Michael, additional, Campbell, Preston J., additional, Caron, Marc G., additional, Carter, Jason R., additional, Chapleau, Mark W., additional, Charkoudian, Nisha, additional, Chelimsky, Gisela, additional, Chelimsky, Thomas C., additional, Chompoopong, Pitcha, additional, Claydon, Victoria E., additional, Clément, Gilles, additional, Convertino, Victor A., additional, Coon, Elizabeth A., additional, Cortelli, Pietro, additional, Davis, Stephen N., additional, Diedrich, André, additional, DiPette, Donald J., additional, Diz, Debra I., additional, Drake, Marcus J., additional, Eisenhofer, Graeme, additional, Elefteriou, Florent, additional, Elijovich, Fernando, additional, Elmenhorst, Eva-Maria, additional, English, Brett A., additional, Esler, Murray, additional, Esler, Rosemary, additional, Fadel, Paul J., additional, Fahrenholz, John M., additional, Fanciulli, Alessandra, additional, Fang, John Y., additional, Fealey, Robert D., additional, Ferreira, Nathanne S., additional, Filogonio, Renato, additional, Fink, Gregory D., additional, Fisher, James P., additional, Floras, John S., additional, Fountain, Samuel J., additional, Fu, Qi, additional, Fudim, Marat, additional, Furlan, Raffaello, additional, Gamboa, Alfredo, additional, Garland, Emily M., additional, Gibbons, Christopher H., additional, Giritharan, Andrew, additional, Goldstein, David S., additional, Golombék, Diego A., additional, Gomez-Sanchez, Elise P., additional, Gomez-Sanchez, Celso E., additional, Graham, Robert M., additional, Grassi, Guido, additional, Greenlund, Ian M., additional, Grubb, Blair P., additional, Guekht, Alla, additional, Guild, Sarah-Jane, additional, Guo, Ling, additional, Gurevich, Vsevolod V., additional, Habermann, Ralf, additional, Hadaya, Joseph, additional, Hahn, Maureen K., additional, Hanna, Peter, additional, Henderson, Luke A., additional, Herring, Neil, additional, Hilz, Max J., additional, Hunter, Peter, additional, Hyland, Keith, additional, Hyland, Lauren A., additional, Jackson, Edwin Kerry, additional, Jacob, Giris, additional, Jänig, Wilfrid, additional, Japundžić-Žigon, Nina, additional, Jones, Carrie K., additional, Joos, Karen M., additional, Jordan, Jens, additional, Joyce, William, additional, Kaidonis, Xenia, additional, Kaufmann, Horacio, additional, Kaye, David, additional, Khan Minhas, Abdul Mannan, additional, Kim, Joyce S., additional, Kitta, Takeya, additional, Kline, David D., additional, Konecny, Thomas, additional, Koons, Natalie J., additional, Kumar, Ambrish, additional, Laffer, Cheryl L., additional, Lagrange, Andre H., additional, Laiken, Nora, additional, Lambert, Gavin, additional, Lambert, Elisabeth, additional, Lamotte, Guillaume, additional, Lenders, Jacques W.M., additional, Levine, Benjamin D., additional, Leys, Fabian, additional, Limper, Ulrich, additional, Lin, Mabelle, additional, Listik, Eduardo, additional, Longmuir, Reid, additional, Low, David A., additional, Low, Phillip A., additional, Luther, James M., additional, Macefield, Vaughan G., additional, Machado, Benedito H., additional, Madel, Maria-Bernadette, additional, Martelli, Davide, additional, Mathias, Christopher J., additional, Mauermann, Michelle L., additional, McAllen, Robin M., additional, McBryde, Fiona D., additional, McKeon, Andrew, additional, McKinley, Michael J., additional, Menuet, Clément, additional, Milam, Douglas F., additional, Mohl, Marion C., additional, Montgomery, Johanna M., additional, Moraes, Davi J.A., additional, Morrison, Shaun F., additional, Murphy, David, additional, Nichols, Charles D., additional, Niewiński, Piotr, additional, Norcliffe-Kaufmann, Lucy, additional, Okamoto, Luis E., additional, Osanlouy, Mahyar, additional, Osborn, John W., additional, Oubaid, Viktor, additional, Palma, Jose-Alberto, additional, Pamporaki, Christina, additional, Parsons, Brian A., additional, Paterson, David J., additional, Paton, Julian F.R., additional, Peltier, Amanda C., additional, Pensato, Umberto, additional, Peterson, Sean M., additional, Phibbs, Fenna T., additional, Pierangeli, Giulia, additional, Potts, Jay D., additional, Rabinstein, Alejandro A., additional, Raizada, Mohan K., additional, Raj, Satish R., additional, Rand, Casey M., additional, Reichmann, Heinz, additional, Robertson, Calum, additional, Robertson, Rose Marie, additional, Robinson, Michael B., additional, Ruzieh, Mohammed, additional, Sandroni, Paola, additional, Sato, Takayuki, additional, Schiffrin, Ernesto L., additional, Schlaich, Markus, additional, Schondorf, Ronald, additional, Schultz, Harold D., additional, Scott, Michael M., additional, Seravalle, Gino, additional, Shannon, John R., additional, Sheikh, Abu Baker, additional, Shibao, Cyndya A., additional, Shivkumar, Kalyanam, additional, Shouman, Kamal, additional, Siepmann, Timo, additional, Singer, Wolfgang, additional, Soltani, Elias, additional, Somers, Virend, additional, Sridharan, Aadhavi, additional, Stefanova, Nadia, additional, Stewart, Julian, additional, Stiles, Lauren E., additional, Sunagawa, Kenji, additional, Tank, Jens, additional, Thijs, Roland D., additional, Tomek, Jakub, additional, Touyz, Rhian M., additional, Tracy, Jennifer A., additional, Travagli, R. Alberto, additional, Undem, Bradley J., additional, Urs, Nikhil, additional, Vernino, Steven, additional, Vianna, Lauro C., additional, Vigo, Daniel E., additional, Vizzard, Margaret A., additional, Wahba, Amr, additional, Waheed, Waqar, additional, Wang, Han-Jun, additional, Wang, Tobias, additional, Wang, Qin, additional, Wang, Ruihao, additional, Weese-Mayer, Debra E., additional, Wenning, Gregor K., additional, Wieling, Wouter, additional, Williams, Kevin W., additional, Winzer-Serhan, Ursula H., additional, Wood, Scott, additional, Yap, Kai Lee, additional, Yoshimura, Naoki, additional, Zavalin, Kirill A., additional, Zhuravlev, Dmitry, additional, Zoccal, Daniel B., additional, and Zubcevic, Jasenka, additional
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- 2023
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11. Dementia with Lewy bodies
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Leys, Fabian, primary, Fanciulli, Alessandra, additional, and Wenning, Gregor K., additional
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- 2023
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12. Multiple System Atrophy (MSA)
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Wenning, Gregor K., Krismer, Florian, Gilman, Sid, Schmahmann, Jeremy D., Section editor, Manto, Mario U., editor, Gruol, Donna L., editor, Schmahmann, Jeremy D., editor, Koibuchi, Noriyuki, editor, and Sillitoe, Roy V., editor
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- 2022
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13. Long‐Term Medication Profiles in Parkinson's Disease under Subthalamic Deep Brain Stimulation: A Controlled Study
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Theyer, Christoph, primary, Beliveau, Vincent, additional, Krismer, Florian, additional, Peball, Marina, additional, Mair, Katherina, additional, Heim, Beatrice, additional, Djamshidian, Atbin, additional, Kiechl, Stefan, additional, Eisner, Wilhelm, additional, Eschlböck, Sabine, additional, Wenning, Gregor K., additional, Willeit, Peter, additional, Seppi, Klaus, additional, Poewe, Werner, additional, and Mahlknecht, Philipp, additional
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- 2024
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14. How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.
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Grimm, Max-Joseph, Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Ferguson, Leslie, Gelpi, Ellen, Giese, Armin, Grossman, Murray, Irwin, David J, Pantelyat, Alexander, Rajput, Alex, Roeber, Sigrun, van Swieten, John C, Troakes, Claire, Antonini, Angelo, Bhatia, Kailash P, Colosimo, Carlo, van Eimeren, Thilo, Kassubek, Jan, Levin, Johannes, Meissner, Wassilios G, Nilsson, Christer, Oertel, Wolfgang H, Piot, Ines, Poewe, Werner, Wenning, Gregor K, Boxer, Adam, Golbe, Lawrence I, Josephs, Keith A, Litvan, Irene, Morris, Huw R, Whitwell, Jennifer L, Compta, Yaroslau, Corvol, Jean-Christophe, Lang, Anthony E, Rowe, James B, Höglinger, Günter U, and Movement Disorder Society-endorsed PSP Study Group
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Movement Disorder Society-endorsed PSP Study Group ,Brain ,Humans ,Parkinsonian Disorders ,Supranuclear Palsy ,Progressive ,Ocular Motility Disorders ,Sensation Disorders ,Autopsy ,Retrospective Studies ,Cohort Studies ,Adult ,Aged ,Aged ,80 and over ,Middle Aged ,Societies ,Medical ,Female ,Male ,Postural Balance ,Cognitive Dysfunction ,autopsy ,diversity ,phenotype ,progressive supranuclear palsy ,Brain Disorders ,Pediatric ,Neurosciences ,Rare Diseases ,Clinical Research ,Perinatal Period - Conditions Originating in Perinatal Period ,4.2 Evaluation of markers and technologies ,Neurology & Neurosurgery ,Clinical Sciences ,Human Movement and Sports Sciences - Abstract
BackgroundThe Movement Disorder Society criteria for progressive supranuclear palsy define diagnostic allocations, stratified by certainty levels and clinical predominance types. We aimed to study the frequency of ambiguous multiple allocations and to develop rules to eliminate them.MethodsWe retrospectively collected standardized clinical data by chart review in a multicenter cohort of autopsy-confirmed patients with progressive supranuclear palsy, to classify them by diagnostic certainty level and predominance type and to identify multiple allocations.ResultsComprehensive data were available from 195 patients. More than one diagnostic allocation occurred in 157 patients (80.5%). On average, 5.4 allocations were possible per patient. We developed four rules for Multiple Allocations eXtinction (MAX). They reduced the number of patients with multiple allocations to 22 (11.3%), and the allocations per patient to 1.1.ConclusionsThe proposed MAX rules help to standardize the application of the Movement Disorder Society criteria for progressive supranuclear palsy. © 2019 International Parkinson and Movement Disorder Society.
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- 2019
15. Cardiac sympathetic innervation in Parkinson’s disease versus multiple system atrophy
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Eckhardt, Christine, Krismer, Florian, Donnemiller, Eveline, Eschlböck, Sabine, Fanciulli, Alessandra, Raccagni, Cecilia, Bösch, Sylvia, Mair, Katherina, Scherfler, Christoph, Djamshidian, Atbin, Uprimny, Christian, Metzler, Bernhard, Seppi, Klaus, Poewe, Werner, Kiechl, Stefan, Virgolini, Irene, and Wenning, Gregor K.
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- 2022
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16. Multiple system atrophy
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Poewe, Werner, Stankovic, Iva, Halliday, Glenda, Meissner, Wassilios G., Wenning, Gregor K., Pellecchia, Maria Teresa, Seppi, Klaus, Palma, Jose-Alberto, and Kaufmann, Horacio
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- 2022
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17. The role of cardiovascular autonomic failure in the differential diagnosis of α-synucleinopathies
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Leys, Fabian, Wenning, Gregor K., and Fanciulli, Alessandra
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- 2022
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18. Female sexual dysfunction in multiple system atrophy: a prospective cohort study
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Raccagni, Cecilia, Indelicato, Elisabetta, Sidoroff, Victoria, Daniaux, Martin, Bader, Angelika, Toth, Bettina, Jelisejevas, Lukas A., Hochleitner, Margarethe, Fanciulli, Alessandra, Leys, Fabian, Eschlboeck, Sabine, Kaindlstorfer, Christine, Boesch, Sylvia, and Wenning, Gregor K.
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- 2021
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19. Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting
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Walsh, Ryan R, Krismer, Florian, Galpern, Wendy R, Wenning, Gregor K, Low, Phillip A, Halliday, Glenda, Koroshetz, Walter J, Holton, Janice, Quinn, Niall P, Rascol, Olivier, Shaw, Leslie M, Eidelberg, David, Bower, Pam, Cummings, Jeffrey L, Abler, Victor, Biedenharn, Judy, Bitan, Gal, Brooks, David J, Brundin, Patrik, Fernandez, Hubert, Fortier, Philip, Freeman, Roy, Gasser, Thomas, Hewitt, Art, Höglinger, Günter U, Huentelman, Matt J, Jensen, Poul H, Jeromin, Andreas, Kang, Un Jung, Kaufmann, Horacio, Kellerman, Lawrence, Khurana, Vikram, Klockgether, Thomas, Kim, Woojin Scott, Langer, Carol, LeWitt, Peter, Masliah, Eliezer, Meissner, Wassilios, Melki, Ronald, Ostrowitzki, Susanne, Piantadosi, Steven, Poewe, Werner, Robertson, David, Roemer, Cyndi, Schenk, Dale, Schlossmacher, Michael, Schmahmann, Jeremy D, Seppi, Klaus, Shih, Lily, Siderowf, Andrew, Stebbins, Glenn T, Stefanova, Nadia, Tsuji, Shoji, Sutton, Sharon, and Zhang, Jing
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Rare Diseases ,Humans ,Multiple System Atrophy ,Nevada ,Patient Advocacy ,Research Design ,Clinical Sciences ,Neurosciences ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
Multiple system atrophy (MSA) is a rare neurodegenerative disorder with substantial knowledge gaps despite recent gains in basic and clinical research. In order to make further advances, concerted international collaboration is vital. In 2014, an international meeting involving leaders in the field and MSA advocacy groups was convened in Las Vegas, Nevada, to identify critical research areas where consensus and progress was needed to improve understanding, diagnosis, and treatment of the disease. Eight topic areas were defined: pathogenesis, preclinical modeling, target identification, endophenotyping, clinical measures, imaging biomarkers, nonimaging biomarkers, treatments/trial designs, and patient advocacy. For each topic area, an expert served as a working group chair and each working group developed priority-ranked research recommendations with associated timelines and pathways to reach the intended goals. In this report, each groups' recommendations are provided.
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- 2018
20. Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study
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Millar Vernetti, Patricio, primary, Norcliffe-Kaufmann, Lucy, additional, Palma, Jose-Alberto, additional, Biaggioni, Italo, additional, Shibao, Cyndya A, additional, Peltier, Amanda, additional, Freeman, Roy, additional, Gibbons, Christopher, additional, Goldstein, David S, additional, Low, Phillip A, additional, Singer, Wolfgang, additional, Coon, Elizabeth A, additional, Miglis, Mitchell G, additional, Wenning, Gregor K, additional, Fanciulli, Alessandra, additional, Vernino, Steven, additional, Betensky, Rebecca A, additional, and Kaufmann, Horacio, additional
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- 2024
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21. Toll-like receptor 4 deficiency facilitates α-synuclein propagation and neurodegeneration in a mouse model of prodromal Parkinson's disease
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Venezia, Serena, Kaufmann, Walter A., Wenning, Gregor K., and Stefanova, Nadia
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- 2021
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22. Neuropathology of multiple system atrophy: Kurt Jellinger`s legacy
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Campese, Nicole, Fanciulli, Alessandra, Stefanova, Nadia, Haybaeck, Johannes, Kiechl, Stefan, and Wenning, Gregor K.
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- 2021
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23. Current experimental disease-modifying therapeutics for multiple system atrophy
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Lemos, Miguel, Wenning, Gregor K., and Stefanova, Nadia
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- 2021
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24. Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment
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Calandra-Buonaura, Giovanna, Alfonsi, Enrico, Vignatelli, Luca, Benarroch, Eduardo E., Giannini, Giulia, Iranzo, Alex, Low, Phillip A., Martinelli, Paolo, Provini, Federica, Quinn, Niall, Tolosa, Eduardo, Wenning, Gregor K., Abbruzzese, Giovanni, Bower, Pamela, Antonini, Angelo, Bhatia, Kailash P., Bonavita, Jacopo, Pellecchia, Maria Teresa, Pizzorni, Nicole, Tison, François, Ghorayeb, Imad, Meissner, Wassilios G., Ozawa, Tetsutaro, Pacchetti, Claudio, Pozzi, Nicolò Gabriele, Vicini, Claudio, Schindler, Antonio, Cortelli, Pietro, and Kaufmann, Horacio
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- 2021
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25. Multiple System Atrophy (MSA)
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Wenning, Gregor K., primary, Krismer, Florian, additional, and Gilman, Sid, additional
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- 2021
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26. Characterization and diagnostic potential of diffusion tractography in multiple system atrophy
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Beliveau, Vincent, Krismer, Florian, Skalla, Elisabeth, Schocke, Michael M., Gizewski, Elke R., Wenning, Gregor K., Poewe, Werner, Seppi, Klaus, and Scherfler, Christoph
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- 2021
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27. Electrodiagnostic assessment of the autonomic nervous system: A consensus statement endorsed by the American Autonomic Society, American Academy of Neurology, and the International Federation of Clinical Neurophysiology
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Cheshire, William P., Freeman, Roy, Gibbons, Christopher H., Cortelli, Pietro, Wenning, Gregor K., Hilz, Max J., Spies, Judith M., Lipp, Axel, Sandroni, Paola, Wada, Naoki, Mano, Akiko, Ah Kim, Hyun, Kimpinski, Kurt, Iodice, Valeria, Idiáquez, Juan, Thaisetthawatkul, Pariwat, Coon, Elizabeth A., Low, Phillip A., and Singer, Wolfgang
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- 2021
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28. Which ante mortem clinical features predict progressive supranuclear palsy pathology?
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Respondek, Gesine, Kurz, Carolin, Arzberger, Thomas, Compta, Yaroslau, Englund, Elisabet, Ferguson, Leslie W, Gelpi, Ellen, Giese, Armin, Irwin, David J, Meissner, Wassilios G, Nilsson, Christer, Pantelyat, Alexander, Rajput, Alex, van Swieten, John C, Troakes, Claire, Josephs, Keith A, Lang, Anthony E, Mollenhauer, Brit, Müller, Ulrich, Whitwell, Jennifer L, Antonini, Angelo, Bhatia, Kailash P, Bordelon, Yvette, Corvol, Jean‐Christophe, Colosimo, Carlo, Dodel, Richard, Grossman, Murray, Kassubek, Jan, Krismer, Florian, Levin, Johannes, Lorenzl, Stefan, Morris, Huw, Nestor, Peter, Oertel, Wolfgang H, Rabinovici, Gil D, Rowe, James B, van Eimeren, Thilo, Wenning, Gregor K, Boxer, Adam, Golbe, Lawrence I, Litvan, Irene, Stamelou, Maria, Höglinger, Günter U, and Group, for the Movement Disorder Society‐Endorsed PSP Study
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Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Brain Disorders ,Dementia ,Alzheimer's Disease Related Dementias (ADRD) ,Pick's Disease ,Rare Diseases ,Acquired Cognitive Impairment ,Neurodegenerative ,Neurosciences ,Aging ,Parkinson's Disease ,Frontotemporal Dementia (FTD) ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Aetiology ,2.1 Biological and endogenous factors ,Detection ,screening and diagnosis ,4.2 Evaluation of markers and technologies ,Neurological ,Humans ,Supranuclear Palsy ,Progressive ,Progressive supranuclear palsy ,clinical features ,diagnosis ,clinico-pathological series ,systematic review ,Movement Disorder Society-Endorsed PSP Study Group ,Clinical Sciences ,Human Movement and Sports Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
BackgroundProgressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes.ObjectiveTo identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP.MethodsWe performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort.ResultsOf 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity.ConclusionsOur results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP. © 2017 International Parkinson and Movement Disorder Society.
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- 2017
29. Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.
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Höglinger, Günter U, Respondek, Gesine, Stamelou, Maria, Kurz, Carolin, Josephs, Keith A, Lang, Anthony E, Mollenhauer, Brit, Müller, Ulrich, Nilsson, Christer, Whitwell, Jennifer L, Arzberger, Thomas, Englund, Elisabet, Gelpi, Ellen, Giese, Armin, Irwin, David J, Meissner, Wassilios G, Pantelyat, Alexander, Rajput, Alex, van Swieten, John C, Troakes, Claire, Antonini, Angelo, Bhatia, Kailash P, Bordelon, Yvette, Compta, Yaroslau, Corvol, Jean-Christophe, Colosimo, Carlo, Dickson, Dennis W, Dodel, Richard, Ferguson, Leslie, Grossman, Murray, Kassubek, Jan, Krismer, Florian, Levin, Johannes, Lorenzl, Stefan, Morris, Huw R, Nestor, Peter, Oertel, Wolfgang H, Poewe, Werner, Rabinovici, Gil, Rowe, James B, Schellenberg, Gerard D, Seppi, Klaus, van Eimeren, Thilo, Wenning, Gregor K, Boxer, Adam L, Golbe, Lawrence I, Litvan, Irene, and Movement Disorder Society-endorsed PSP Study Group
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Movement Disorder Society-endorsed PSP Study Group ,Humans ,Supranuclear Palsy ,Progressive ,Societies ,Medical ,Practice Guidelines as Topic ,clinical diagnostic criteria ,consensus-based ,evidence-based ,progressive supranuclear palsy ,Brain Disorders ,Neurosciences ,Neurological ,Clinical Sciences ,Human Movement and Sports Sciences ,Neurology & Neurosurgery - Abstract
BackgroundPSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome.ObjectiveWe aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP.MethodsWe searched the PubMed, Cochrane, Medline, and PSYCInfo databases for articles published in English since 1996, using postmortem diagnosis or highly specific clinical criteria as the diagnostic standard. Second, we generated retrospective standardized clinical data from patients with autopsy-confirmed PSP and control diseases. On this basis, diagnostic criteria were drafted, optimized in two modified Delphi evaluations, submitted to structured discussions with consensus procedures during a 2-day meeting, and refined in three further Delphi rounds.ResultsDefined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context-dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. Within each of these domains, we propose three clinical features that contribute different levels of diagnostic certainty. Specific combinations of these features define the diagnostic criteria, stratified by three degrees of diagnostic certainty (probable PSP, possible PSP, and suggestive of PSP). Clinical clues and imaging findings represent supportive features.ConclusionsHere, we present new criteria aimed to optimize early, sensitive, and specific clinical diagnosis of PSP on the basis of currently available evidence. © 2017 International Parkinson and Movement Disorder Society.
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- 2017
30. Bishop Dr. Karl Golser Prize 2022 awarded to Prof. Wolfgang Singer
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Wenning, Gregor K. and Bower, Pamela
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- 2022
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31. Emergent creativity in frontotemporal dementia
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Geser, Felix, Jellinger, Kurt A., Fellner, Lisa, Wenning, Gregor K., Yilmazer-Hanke, Deniz, and Haybaeck, Johannes
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- 2021
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32. Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study.
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Vernetti, Patricio Millar, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Biaggioni, Italo, Shibao, Cyndya A, Peltier, Amanda, Freeman, Roy, Gibbons, Christopher, Goldstein, David S, Low, Phillip A, Singer, Wolfgang, Coon, Elizabeth A, Miglis, Mitchell G, Wenning, Gregor K, Fanciulli, Alessandra, Vernino, Steven, Betensky, Rebecca A, and Kaufmann, Horacio
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LEWY body dementia ,MULTIPLE system atrophy ,PARKINSON'S disease ,COHORT analysis ,LONGITUDINAL method ,ORTHOSTATIC intolerance - Abstract
We aimed to describe the clinical features of patients with pure autonomic failure (PAF) preceding phenoconversion that could be useful as predictive markers for advancing α-synuclein-associated neurodegeneration of the brain. Patients diagnosed with PAF were evaluated at eight centres (seven US-based and one European) and enrolled in a longitudinal observational cohort study (NCT01799915). Subjects underwent detailed assessments of motor, sleep, olfactory, cognitive and autonomic function and were followed prospectively to determine whether they developed parkinsonism or dementia for up to 10 years. We identified incident cases of Parkinson's disease (PD), dementia with Lewy bodies (DLB) or multiple system atrophy (MSA) and computed hazard ratios for phenoconversion as functions of clinical features. A total of 209 participants with PAF with a median disease duration of 6 years (IQR: 3–10) were enrolled. Of those, 149 provided follow-up information at an office or telemedicine visit. After a mean follow-up duration of 3 years, 48 (33%) participants phenoconverted (42% to PD, 35% to DLB and 23% to MSA). Faster phenoconversion from study enrolment to any diagnosis was associated with urinary and sexual dysfunction [hazard ratio (HR) 5.9, 95% confidence interval (CI): 1.6–22 and HR: 3.6, 95% CI: 1.1–12] followed by subtle motor signs (HR: 2.7, 95% CI: 1.2–6), trouble swallowing (HR 2.5, 95% CI: 1.4–4.5) and changes in speech (HR:2.4, 95% CI:1.1–4.8) at enrolment. Subjects reporting deterioration of handwriting were more likely to phenoconvert to PD (HR: 2.6, 95% CI: 1.1–5.9) and those reporting difficulty handling utensils were more likely to phenoconvert to DLB (HR: 6.8, 95% CI: 1.2–38). Patients with a younger age of PAF onset (HR: 11, 95% CI: 2.6–46), preserved olfaction (HR: 8.7, 95% CI: 1.7–45), anhidrosis (HR: 1.8, 95% CI: 1–3.1, P = 0.042) and severe urinary problems (HR 1.6, 95% CI: 1–2.5, P = 0.033) were more likely to phenoconvert to MSA. The best autonomic predictor of PD was a blunted heart rate increase during the tilt-table test (HR: 6.1, 95% CI: 1.4–26). Patients with PAF have an estimated 12% (95% CI: 9–15%) per year annual risk following study entry of phenoconverting to a manifest CNS synucleinopathy. [ABSTRACT FROM AUTHOR]
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- 2024
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33. Early Screening for the Parkinson Variant of Multiple System Atrophy: A 6‐Item Score.
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Fanciulli, Alessandra, Stankovic, Iva, Avraham, Omer, Jecmenica Lukic, Milica, Ezra, Adi, Leys, Fabian, Goebel, Georg, Krismer, Florian, Petrovic, Igor, Svetel, Marina, Seppi, Klaus, Kostic, Vladimir, Giladi, Nir, Poewe, Werner, Wenning, Gregor K., and Gurevich, Tanya
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MULTIPLE system atrophy ,PARKINSON'S disease ,ORTHOSTATIC hypotension ,OVERACTIVE bladder ,SENSITIVITY & specificity (Statistics) - Abstract
Background: A 4‐item score based on ≥2 features out of orthostatic hypotension, overactive bladder, urinary retention and postural instability was previously shown to early distinguish the Parkinson‐variant of multiple system atrophy (MSA‐P) from Parkinson's disease (PD) with 78% sensitivity and 86% specificity. Objectives: To replicate and improve the 4‐item MSA‐P score. Methods: We retrospectively studied 161 patients with early parkinsonism [ie, ≤2 years disease duration or no postural instability, aged 64 (57; 68) years, 44% females] and a diagnosis of clinically established MSA‐P (n = 38) or PD (n = 123) after ≥24 months follow‐up. Results: The 4‐item MSA‐P score had a 92% sensitivity and 78% specificity for a final MSA‐P diagnosis. By including dopaminergic responsiveness and postural deformities into a 6‐item score (range: 0–6), reaching ≥3 points at early disease identified MSA‐P patients with 89% sensitivity and 98% specificity. Conclusions: The 6‐item MSA‐P score is a cost‐effective tool to pinpoint individuals with early‐stage MSA‐P. [ABSTRACT FROM AUTHOR]
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- 2024
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34. A genome-wide association study in multiple system atrophy
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Sailer, Anna, Scholz, Sonja W, Nalls, Michael A, Schulte, Claudia, Federoff, Monica, Price, T Ryan, Lees, Andrew, Ross, Owen A, Dickson, Dennis W, Mok, Kin, Mencacci, Niccolo E, Schottlaender, Lucia, Chelban, Viorica, Ling, Helen, O'Sullivan, Sean S, Wood, Nicholas W, Traynor, Bryan J, Ferrucci, Luigi, Federoff, Howard J, Mhyre, Timothy R, Morris, Huw R, Deuschl, Günther, Quinn, Niall, Widner, Hakan, Albanese, Alberto, Infante, Jon, Bhatia, Kailash P, Poewe, Werner, Oertel, Wolfgang, Höglinger, Günter U, Wüllner, Ullrich, Goldwurm, Stefano, Pellecchia, Maria Teresa, Ferreira, Joaquim, Tolosa, Eduardo, Bloem, Bastiaan R, Rascol, Olivier, Meissner, Wassilios G, Hardy, John A, Revesz, Tamas, Holton, Janice L, Gasser, Thomas, Wenning, Gregor K, Singleton, Andrew B, Houlden, Henry, Calandra-Buonaura, Giovanna, Capellari, Sabina, and Cortelli, Pietro
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Human Genome ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Alkyl and Aryl Transferases ,Brain ,Cohort Studies ,Europe ,Genetic Loci ,Genome-Wide Association Study ,Genotyping Techniques ,Humans ,Multiple System Atrophy ,Polymorphism ,Single Nucleotide ,RNA ,Messenger ,United States ,Whites ,alpha-Synuclein ,European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group ,White People ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveTo identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS).MethodsWe performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed.ResultsWe found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p < 1 × 10-6, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA.ConclusionsWe present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps.
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- 2016
35. Progressive Brain Atrophy in Multiple System Atrophy: A Longitudinal, Multicenter, Magnetic Resonance Imaging Study
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Krismer, Florian, primary, Péran, Patrice, additional, Beliveau, Vincent, additional, Seppi, Klaus, additional, Arribarat, Germain, additional, Pavy‐Le Traon, Anne, additional, Meissner, Wassilios G., additional, Foubert‐Samier, Alexandra, additional, Fabbri, Margherita, additional, Schocke, Michael M., additional, Gordon, Mark Forrest, additional, Wenning, Gregor K., additional, Poewe, Werner, additional, Rascol, Olivier, additional, and Scherfler, Christoph, additional
- Published
- 2023
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36. Gait and postural disorders in parkinsonism: a clinical approach
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Raccagni, Cecilia, Nonnekes, Jorik, Bloem, Bastiaan R., Peball, Marina, Boehme, Christian, Seppi, Klaus, and Wenning, Gregor K.
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- 2020
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37. Autonomic History Taking and Key Symptoms: Where Is the Autonomic Disease?
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Fanciulli, Alessandra, Indelicato, Elisabetta, Wenning, Gregor K., Struhal, Walter, editor, Lahrmann, Heinz, editor, Fanciulli, Alessandra, editor, and Wenning, Gregor K., editor
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- 2017
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38. Bladder and Sexual Dysfunction
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Fanciulli, Alessandra, Kiss, Gusztav, Eschlböck, Sabine, Wenning, Gregor K., Panicker, Jalesh N., Struhal, Walter, editor, Lahrmann, Heinz, editor, Fanciulli, Alessandra, editor, and Wenning, Gregor K., editor
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- 2017
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39. Cardiovascular autonomic function testing in multiple system atrophy and Parkinson’s disease: an expert-based blinded evaluation
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Leys, Fabian, Fanciulli, Alessandra, Ndayisaba, Jean-Pierre, Granata, Roberta, Struhal, Walter, and Wenning, Gregor K.
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- 2020
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40. Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
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Kouri, Naomi, Ross, Owen A, Dombroski, Beth, Younkin, Curtis S, Serie, Daniel J, Soto-Ortolaza, Alexandra, Baker, Matthew, Finch, Ni Cole A, Yoon, Hyejin, Kim, Jungsu, Fujioka, Shinsuke, McLean, Catriona A, Ghetti, Bernardino, Spina, Salvatore, Cantwell, Laura B, Farlow, Martin R, Grafman, Jordan, Huey, Edward D, Ryung Han, Mi, Beecher, Sherry, Geller, Evan T, Kretzschmar, Hans A, Roeber, Sigrun, Gearing, Marla, Juncos, Jorge L, Vonsattel, Jean Paul G, Van Deerlin, Vivianna M, Grossman, Murray, Hurtig, Howard I, Gross, Rachel G, Arnold, Steven E, Trojanowski, John Q, Lee, Virginia M, Wenning, Gregor K, White, Charles L, Höglinger, Günter U, Müller, Ulrich, Devlin, Bernie, Golbe, Lawrence I, Crook, Julia, Parisi, Joseph E, Boeve, Bradley F, Josephs, Keith A, Wszolek, Zbigniew K, Uitti, Ryan J, Graff-Radford, Neill R, Litvan, Irene, Younkin, Steven G, Wang, Li-San, Ertekin-Taner, Nilüfer, Rademakers, Rosa, Hakonarsen, Hakon, Schellenberg, Gerard D, and Dickson, Dennis W
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Cerebral Cortex ,Humans ,Basal Ganglia Diseases ,Supranuclear Palsy ,Progressive ,Neurodegenerative Diseases ,Kinesin ,SOS1 Protein ,tau Proteins ,Myelin Proteins ,Case-Control Studies ,Polymorphism ,Single Nucleotide ,Adult ,Aged ,Aged ,80 and over ,Middle Aged ,Female ,Male ,Genome-Wide Association Study ,Young Adult ,RNA ,Long Noncoding ,and over ,Polymorphism ,Single Nucleotide ,RNA ,Long Noncoding ,Supranuclear Palsy ,Progressive - Abstract
Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10(-8)), and 2p22 at SOS1 (rs963731; P=1.76 × 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).
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- 2015
41. Safety and efficacy of epigallocatechin gallate in multiple system atrophy (PROMESA): a randomised, double-blind, placebo-controlled trial
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André, Elisabeth, Blankenstein, Christiane, Canelo, Monica, Düring, Marco, Ebentheuer, Jens, Fricke, Christopher, Gerbes, Alexander, Groiss, Stefan, Gruber, Doreen, Hartmann, Christian, Kirchner, Thomas, Kroneberg, Daniel, Kunz, Martin, Lorenzl, Stefan, Moldovan, Alexia, Noda, Anna, Pape, Heidi, Respondek, Gesine, Schäffer, Eva, Schneider, Martina, Schnitzler, Alfons, Schulz-Schaeffer, Walter, Schwarz, Johannes, Skowronek, Cornelia, Storch, Alexander, Tadic, Vera, Vadász, Dávid, Zimmermann, Benno, Levin, Johannes, Maaß, Sylvia, Schuberth, Madeleine, Giese, Armin, Oertel, Wolfgang H, Poewe, Werner, Trenkwalder, Claudia, Wenning, Gregor K, Mansmann, Ulrich, Südmeyer, Martin, Eggert, Karla, Mollenhauer, Brit, Lipp, Axel, Löhle, Matthias, Classen, Joseph, Münchau, Alexander, Kassubek, Jan, Gandor, Florin, Berg, Daniela, Egert-Schwender, Silvia, Eberhardt, Cornelia, Paul, Friedemann, Bötzel, Kai, Ertl-Wagner, Birgit, Huppertz, Hans-Jürgen, Ricard, Ingrid, and Höglinger, Günter U
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- 2019
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42. Cardiovascular autonomic failure in Parkinson's disease
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Leys, Fabian, primary, Wenning, Gregor K., additional, and Fanciulli, Alessandra, additional
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- 2021
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43. Abnormalities on structural MRI associate with faster disease progression in multiple system atrophy
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Krismer, Florian, Seppi, Klaus, Wenning, Gregor K., Papapetropoulos, Spyridon, Abler, Victor, Goebel, Georg, Schocke, Michael, and Poewe, Werner
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- 2019
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44. Axial motor clues to identify atypical parkinsonism: A multicentre European cohort study
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Østergaard, Karen, Stamelou, Maria, Tolosa, Eduardo, Kostic, Vladimir S., Cortelli, Pietro, Klockgether, Thomas, Dodel, Richard, Abele, Michael, Meissner, Wassilios, Reichmann, Heinz, Lynch, Tim, Slawek, Jaroslaw, Poewe, Werner, Wenning, Gregor K., Klaus Seppi, Mag, Krismer, Florian, Berg, Daniela, Ferreira, Joaquim, Houlden, Henry, Quinn, Niall P., Widner, Håkan, Gerhard, Alexander, Eggert, Karla Maria, Albanese, Alberto, Sorbo, Francesca del, Barone, Paolo, Pellecchia, Maria T., Bloem, Bas, Borm, Carlijn, Djaldetti, Ruth, Berardelli, Alfredo, Colosimo, Carlo, Berciano, Jose, Traykov, Latchezar, Giladi, Nir, Gurevich, Tanya, Rascol, Olivier, Galitzky, Monique, Gasser, Thomas, Borm, Carlijn D.J.M., Seppi, Klaus, Pellecchia, Maria Teresa, Johnsen, Erik L., Sambati, Luisa, Petrović, Igor, Kostić, Vladimir S., Brožová, Hana, Růžička, Evžen, Marti, Maria Jose, Canesi, Margherita, Post, Bart, Nonnekes, Jorik, and Bloem, Bastiaan R.
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- 2018
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45. Emotion Recognition in Multiple System Atrophy – An exploratory Eye-Tracking Study
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Sidoroff, Victoria, primary, Carbone, Federico, additional, Ellmerer, Philipp, additional, Bair, Stefanie, additional, Hoffmann, Alexandra, additional, Maran, Thomas, additional, Krismer, Florian, additional, Mahlknecht, Philipp, additional, Mair, Katherina, additional, Raccagni, Cecilia, additional, Ndayisaba, Jean-Pierre, additional, Seppi, Klaus, additional, Wenning, Gregor K., additional, and Djamshidian, Atbin, additional
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- 2023
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46. The Framework for Diagnostic Criteria in Movement Disorders: The Value of Methodological Tools and Combined Criteria
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Vignatelli, Luca, primary, Calandra‐Buonaura, Giovanna, additional, Stankovic, Iva, additional, Kaufmann, Horacio, additional, Cortelli, Pietro, additional, and Wenning, Gregor K., additional
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- 2023
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47. Reply to Letter to the Editor: “Disease Progression in Multiple System Atrophy: The Value of Clinical Cohorts with Long Follow‐Up”
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Raket, Lars Lau, primary, Hansen, Ingeborg Helbech, additional, Kühnel, Line, additional, Åström, Daniel Oudin, additional, Berger, Anna‐Karin, additional, Krismer, Florian, additional, Wenning, Gregor K., additional, Seppi, Klaus, additional, Poewe, Werner, additional, and Molinuevo, José Luis, additional
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- 2023
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48. Impact of the <scp>COVID</scp> ‐19 pandemic on clinical autonomic practice in Europe: a survey of the European Academy of Neurology and the European Federation of Autonomic Societies
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Fanciulli, Alessandra, Leys, Fabian, Krbot Skorić, Magdalena, Reis Carneiro, Diogo, Calandra‐Buonaura, Giovanna, Camaradou, Jennifer, Chiaro, Giacomo, Cortelli, Pietro, Falup‐ Pecurariu, Cristian, Granata, Roberta, Guaraldi, Pietro, Helbok, Raimund, Hilz, Max J., Iodice, Valeria, Jordan, Jens, Kaal, Evert C. A., Kamondi, Anita, Pavy Le Traon, Anne, Rocha, Isabel, Sellner, Johann, Senard, Jean Michel, Terkelsen, Astrid, Wenning, Gregor K., Moro, Elena, Berger, Thomas, Thijs, Roland D., Struhal, Walter, Habek, Mario, Adamec, Ivan, Aerts, Arnaud, Campese, Nicole, Canta, Leo L. R., Delamont, Robert Shane, de Lange, Frederik, Del Sorbo, Francesca, Devigili, Grazia, Di Leo, Rita, Dinh, Trang, Fortrat, Jacques‐Olivier, Gierthmühlen, Janne, Hemels, Martin, Köhn, Julia, Krøigård, Thomas, Lipp, Axel, Maier, Andrea, Marinelli, Lucio, Mazzeo, Anna, Milenkovic, Ivan, Motyl, Maciej, Sora, Maria Grazia Natali, Navarro‐Otano, Judith, Nilsen, Kristian Bernhard, Oliveira, Mario, Omland, Petter Moe, Pelliccioni, Giuseppe, Pereon, Yann, Resch, Roland Josef, Rocchi, Camilla, Roche, Frederic, Rutten, Joost, Tijero‐Merino, Beatriz, Tutaj, Marcin, van der Heijden‐Montfroy, A. M. H. G., van Hoeve, Bas J. A., van Orshoven, Narender, Wang, Ruihao, Graggen, Werner J. Z’., and the Collaborators of European Network of Neurological ANS laboratories
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orthostatic hypotension ,COVID-19 infection ,vaccination ,POTS ,autonomic nervous system ,postural orthostatic tachycardia syndrome ,syncope ,telemedicineCOVID-19 infection ,COVID-19 vaccination ,Neurology ,telemedicine ,Neurology (clinical) - Abstract
Background and purpose: The objective was to investigate the impact of the coronavirus disease 2019 (COVID-19) pandemic on European clinical autonomic practice. Methods: Eighty-four neurology-driven or interdisciplinary autonomic centers in 22 European countries were invited to fill in a web-based survey between September and November 2021. Results: Forty-six centers completed the survey (55%). During the first pandemic year, the number of performed tilt-table tests, autonomic outpatient and inpatient visits decreased respectively by 50%, 45% and 53%, and every third center reported major adverse events due to postponed examinations or visits. The most frequent newly diagnosed or worsened cardiovascular autonomic disorders after COVID-19 infection included postural orthostatic tachycardia syndrome, orthostatic hypotension and recurrent vasovagal syncope, deemed to be likely related to the infection by ≥50% of the responders. Forty-seven percent of the responders also reported about people with new onset of orthostatic intolerance but negative tilt-table findings, and 16% about people with psychogenic pseudosyncope after COVID-19. Most patients were treated non-pharmacologically and symptomatic recovery at follow-up was observed in ≥45% of cases. By contrast, low frequencies of newly diagnosed cardiovascular autonomic disorders following COVID-19 vaccination were reported, most frequently postural orthostatic tachycardia syndrome and recurrent vasovagal syncope, and most of the responders judged a causal association unlikely. Non-pharmacological measures were the preferred treatment choice, with 50%–100% recovery rates at follow-up. Conclusions: Cardiovascular autonomic disorders may develop or worsen following a COVID-19 infection, whilst the association with COVID-19 vaccines remains controversial. Despite the severe pandemic impact on European clinical autonomic practice, a specialized diagnostic work-up was pivotal to identify non-autonomic disorders in people with post-COVID-19 orthostatic complaints.
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- 2023
49. The reorganization of functional architecture in the early-stages of Parkinson's disease
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Tuovinen, Noora, Seppi, Klaus, de Pasquale, Francesco, Müller, Christoph, Nocker, Michael, Schocke, Michael, Gizewski, Elke R., Kremser, Christian, Wenning, Gregor K., Poewe, Werner, Djamshidian, Atbin, Scherfler, Christoph, and Seki, Morinobu
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- 2018
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50. Diagnostic potential of dentatorubrothalamic tract analysis in progressive supranuclear palsy
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Seki, Morinobu, Seppi, Klaus, Mueller, Christoph, Potrusil, Thomas, Goebel, Georg, Reiter, Eva, Nocker, Michael, Steiger, Ruth, Wildauer, Matthias, Gizewski, Elke R., Wenning, Gregor K., Poewe, Werner, and Scherfler, Christoph
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- 2018
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