Results 241 to 250 of about 33,305 (301)

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

Epilepsy and EEG abnormalities in neurodegenerative dementias: toward a system epilepsy framework. [PDF]

Front Aging Neurosci
Manganotti P, Palacino F, Pavan S, Benussi A.   +3 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

SUDEP update 2026: recent advances in experimental and clinical research. [PDF]

Curr Opin Neurol
Ryvlin P, Rheims S.
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

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

Sleep Architecture and Microstructure in Childhood Absence Epilepsy: Clinical and Neurophysiological Perspectives. [PDF]

J Clin Med
Jączak-Goździak M, Żarowski M.
europepmc   +1 more source

Real-world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2-q13.1 duplication and deletion syndromes: A multicenter study. [PDF]

Epilepsia Open
Cerulli Irelli E, Mazzeo A, Perulli M, Ramantani G, Battaglia D, Bagnasco I, Cognolato E, Striano P, Negrin S, Danieli A, Bonanni P, Operto FF, Di Bonaventura C, Coppola A, Orsini A.   +14 more
europepmc   +1 more source

Diagnostic Utility of Common Brain MRI Technique in Pediatric Epilepsy: A Cross-Sectional Study. [PDF]

Iran J Child Neurol
Babaei M, Tavakoli M, Heidari F.
europepmc   +1 more source