Results 121 to 130 of about 10,519 (268)

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

Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum. [PDF]

J Clin Med
Bayanova M, Nazarova L, Zhakupov A, Malik D, Gabdulkayum A, Mirmanova Z, Satvaldina N, Rakhimova S, Akilzhanova A, Yerezhepov D, Bolatov A.   +10 more
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

Successful Management of Refractory Seizures in a Pediatric Patient with DLG3-Associated Epilepsy Using the Ketogenic Diet. [PDF]

Ann Indian Acad Neurol
Balaji BS, Basu S, Manokaran RK, Narasimhan RL, Janardhanam HA.   +4 more
europepmc   +1 more source

Speech Biomarkers for Quantifying Effects of Subthalamic Deep Brain Stimulation in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Dysarthria is one of the most common and disabling side effects of subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson's disease (PD). Stimulation often exacerbates speech dysfunction beyond the effects of PD progression, likely because of current spread to structures surrounding the STN.
Petr Krýže, Mário Sousa, Vojtěch Illner, Adriana Jorge, Matilde Castelli, Ines Debove, Andreia D. Magalhães, Julia Waskönig, Lenard Lachenmayer, Joan Philipp Michelis, Gerd Tinkhauser, Deborah Amstutz, Marie Elise Maradan‐Gachet, Katrin Petermann, Claudio Pollo, Tobias Nef, Paul Krack, Jan Rusz   +17 more
wiley   +1 more source

Cartography of Collapse: Mapping the Architecture of SUDEP. [PDF]

Epilepsy Curr
Zawar I.
europepmc   +1 more source

From Marginal to Central: Marginal Zone‐like B Cells as Critical Targets in Cladribine‐Treated Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) is a chronic autoimmune disease where B cells play a central pathogenic role. Cladribine, an oral therapy, provides durable benefits by reshaping lymphocyte populations, yet its specific long‐term impact on distinct B‐cell subsets is not fully understood.
Marta Pirronello, Mario Picozza, Gisella Guerrera, Silvia Corbisiero, Andrea Misiti, Roberta C. Placido, Alice Verdiani, Lorenzo de Marco, Manolo Sambucci, Elena Olivieri, Daniela F. Angelini, Esmeralda Quartuccio, Luca Prosperini, Carla Tortorella, Maria C. Buscarinu, Valeria Zancan, Francesca de Masi, Marco Salvetti, Claudio Gasperini, Giovanna Borsellino, Luca Battistini   +20 more
wiley   +1 more source

Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]

Clin Case Rep
Pandit A, Koirala M, Shahi A, Sharma A, Panta A, Rimal S.   +5 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

Distinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study. [PDF]

Epilepsia
Feng X, Chari A, Eriksson MH, Prentice F, He X, Xie H, Sepeta L, Tahir MZ, Clayden JD, Tisdall MM, Baldeweg T, Piper RJ.   +11 more
europepmc   +1 more source