Results 131 to 140 of about 18,928 (260)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Paraneoplastic neurologic syndrome in a 65-year-old woman with small cell lung cancer. [PDF]

CMAJ
Hiraoka Y, Hosoi Y, Yasumi K, Ozawa Y.
europepmc   +1 more source

Assessing Progression Independent of Relapse Activity in Multiple Sclerosis Using a Patient‐Reported Disability Measure and Self‐Administered Neuroperformance Outcomes

Annals of Neurology, EarlyView.
Objective The objective of this study was to investigate the ability of patient‐reported/administered outcomes to capture disability worsening and progression independent of relapse activity (PIRA) in multiple sclerosis (MS). Methods We included patients from the longitudinal multicenter MS PATHS cohort with ≥3 assessments and >6 months follow‐up. PIRA
Evy M. Reinders, Ariadna Masot‐Llima, Susana Otero‐Romero, René Carvajal, Álvaro Cobo‐Calvo, Pere Carbonell‐Mirabent, Jordina Beltran, Maria Jesús Arévalo, Helena Ariño, Georgina Arrambide, Cristina Auger, Luca Bollo, Joaquín Castilló, Manuel Comabella, Ingrid Galán, Alexis García‐Sarreón, Andrew Goodman, Carrie M. Hersh, Delon La Puma, Le H. Hua, Luciana Midaglia, Neus Mongay‐Ochoa, Ellen M. Mowry, Agustín Pappolla, Breogán Rodríguez‐Acevedo, Jordi Río, Paula Tagliani, Ángela Vidal‐Jordana, Andreu Vilaseca, Ana Zabalza, Deborah Pareto, Carlos Nos, Menno Schoonheim, Eva Strijbis, Jaume Sastre‐Garriga, Madalina Tivarus, Tjalf Ziemssen, Àlex Rovira, Xavier Montalban, Mar Tintoré, Carmen Tur   +40 more
wiley   +1 more source

Lower Urinary Tract Symptoms as an Indicator of Occult Neurologic Disease: A System-first Framework for Urologic Practice. [PDF]

Curr Urol Rep
Minnerath E, Khazen O, Panicker JN, Drake MJ, De EJB.   +4 more
europepmc   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Advances in music therapy for neurological rehabilitation. [PDF]

Front Neurol
Yu M, Song Y, Song H, Duan H, Zhang G.
europepmc   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Neuron-specific enolase enzymatic activity as a biomarker to discriminate neurologic and orthopedic gait abnormalities in dogs. [PDF]

J Vet Intern Med
Huynh A, Byron MJ, Lenfest MI, Mukhtarov F, Yasmin R, Cohen R, Rishniw M, Travis AJ, Merbl Y.   +8 more
europepmc   +1 more source

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source