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The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts +16 morewiley +1 more sourceOsler’s neurology
Advances in Clinical Neuroscience & RehabilitationThis paper highlights the contributions of Sir William Osler (1849–1919) to neurology. He conducted extensive neuropathological research, and collaborated with the eminent figures, Silas Weir Mitchell and Harvey Cushing, and many early English ...JMS Pearcedoaj +1 more sourceDose–effect relationships between manganese exposure and neurological, neuropsychological and pulmonary function in confined space bridge welders
, 2006 Rosemarie M. Bowler, H. A Roels, Sanae Nakagawa, Milka Drezgić, Emily Diamond, R. Park, William C. Koller, Russell P. Bowler, Donna Mergler, Michèle Bouchard, Donald R. Smith, R. Gwiazda, Richard L. Doty +12 moreopenalex +1 more sourceLesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca +7 morewiley +1 more sourceA Multi‐Center Retrospective Cohort Study of Neurosarcoidosis Myelitis: Current Observations and Future Directions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods
Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.Giovanna S. Manzano, Denis Balaban, Yihan Zhang, Brian Healy, Bart K. Chwalisz, Michael Levy, Nagagopal Venna, Barney J. Stern, Carlos A. Pardo, Paula Barreras, Nicole Bou Rjeily, Eoin P. Flanagan, Vyanka Redenbaugh, Allen J. Aksamit Jr., Spencer Hutto, Max Herman, Sally El Sammak, Elsa C. Rodriguez, Laura Snider, Hannah Rains, Mayra Montalvo, Torge Rempe, Sergi Martinez Ramirez, Lucas Horta, Stacey Clardy, Jennifer Lord, Tracey A. Cho, Lama Abdel Wahed, Joseph R. Berger, Rohini D. Samudralwar, Noellie Rivera Torres, David B. Clifford, Steven Richard Dunham, Masoud Majed, Aram Zabeti, Samuel Marcucci, Yang Mao‐Draayer, Jon Doty, Paunel B. Agyei, Shamik Bhattacharyya +39 morewiley +1 more source