Results 81 to 90 of about 47,077 (263)

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

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

Moving beyond neurophobia to cultivate the neuroquisitive learner

Anatomical Sciences Education, EarlyView.
Abstract “Neurophobia,” a pervasive fear of the neurological sciences, poses a significant barrier in medical education, affecting learners and physicians worldwide. Its consequences are far‐reaching, contributing to a limited neurology workforce and diminished confidence among non‐specialists in managing neurological conditions.
Joanna R. Appel, Kirsten A. Porter‐Stransky   +1 more
wiley   +1 more source

Brain parenchymal changes during normal aging in domestic cats

Pesquisa Veterinária Brasileira
: This study aimed to identify changes related to brain parenchyma as advancing age in healthy domestic cats. Our hypothesis is that cats suffer cerebral and cerebellar atrophy and show focal changes in signal intensity of the brain parenchyma in ...
Viviam R. Babicsak, Adriana V. Klein, Miriam H. Tsunemi, Luiz C. Vulcano   +3 more
doaj   +1 more source

Linking Brain Morphometry to Psychometric Measures and Energy‐Metabolic Biomarkers in Adults With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is associated with differences in neurodevelopment and altered metabolism, yet the interplay between brain morphometry, mitochondrial and energy metabolism biomarkers, and autistic traits in adults remains poorly understood. This study investigates the link between brain structure, psychometric measures, and both
Eleonora Esposto, Kathrin Nickel, Dominique Endres, Kimon Runge, Katharina Domschke, Thomas Lange, Marco Reisert, Anke Schumann, Cinzia Niolu, Ludger Tebartz van Elst, Simon Maier   +10 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series

Frontiers in Computational Neuroscience
ObjectiveThis study primarily aimed to comprehensively characterize the neurological, neuroradiological and neurocognitive profiles, as well psychiatric features of individuals with Spinocerebellar Ataxia Type 34 (SCA34) associated with pathogenic ...
Maurizio Cundari, Maurizio Cundari, Maurizio Cundari, Lena Kirchhoff, Susanna Vestberg, Danielle van Westen, Danielle van Westen, Sigurd Dobloug, Sigurd Dobloug, Karin Markenroth Bloch, Markus Nilsson, Linda Wennberg, Linda Wennberg, Boel Hansson, Boel Hansson, Nikos Priovoulos, Nikos Priovoulos, Anders Rasmussen, Sorina Gorcenco   +18 more
doaj   +1 more source

Glymphatic dysfunction couples with cortical excitation–inhibition imbalance in epilepsy: Evidence from Rasmussen encephalitis

Epilepsia, EarlyView.
Cong Fu et al. demonstrate that glymphatic system dysfunction is linked to enhanced inhibitory cortical activity using diffusion MRI and EEG. These findings highlight a mechanistic link between perivascular fluid dynamics and neuronal activity, suggesting a role for glymphatic function in maintaining cortical stability in epilepsy.
Cong Fu, Yujiao Yang, Pan Gong, Kun Lv, Yilin Liu, Chongyang Tang, Xiongfei Wang, Lixin Cai, Qingzhu Liu, Yuwu Jiang, Taoyun Ji, Guoming Luan   +11 more
wiley   +1 more source