Results 121 to 130 of about 55,413 (307)

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

The ducky^{2J} Mutation in Cacna2d2 Results in Reduced Spontaneous Purkinje Cell Activity and Altered Gene Expression

, 2006
The mouse mutant ducky and its allele ducky^{2J} represent a model for absence epilepsy characterized by spike-wave seizures and cerebellar ataxia. These mice have mutations in Cacna2d2, which encodes the α₂δ-2 calcium channel subunit.
Davies, A, Wilkinson, T, Page, KM, Foucault, I, Rees, M, Dolphin, AC, Koch, D, Donato, R, Nieto-Rostro, M, Edwards, FA   +9 more
core  

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

Integrating yoga into anatomy and clinical medicine education: A holistic approach to learning

Anatomical Sciences Education, EarlyView.
Abstract Anatomical knowledge is fundamental for success in clinical settings. Unfortunately, anatomy education within professional health programs has experienced a continual decrease in contact hours and curricular content over the previous two decades, leading to deficits and potential gaps in anatomical science knowledge.
Dana Rohde, Madeleine E. Norris, Jennifer R. Kinder, Barbie Klein, Derek Harmon   +4 more
wiley   +1 more source

Cerebellar ataxia and coenzyme Q10 deficiency

, 2003
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10 ...
BERTINI E., Servidei, Serenella, SERVIDEI S., LYNCH D, LAMPERTI C., VALERIANI M, ANGELINI, CORRADO, NAINI A., BERG M., BANWELL B., DE VIVO DC, CHIRIBOGA, PEGORARO, ELENA, DI MAURO S., DUBROVSKY T., HIRANO M.   +15 more
core   +2 more sources

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 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

Ataxia-telangiectasia-like disorder-1 with ocular telangiectasia — A rare case report from India

Annals of Movement Disorders
Ataxia-telangiectasia-like disorder-1 (ATLD-1) is an autosomal recessive disorder that is classified as a chromosomal instability syndrome. It is caused by the homozygous or compound heterozygous variants of the MRE11 gene, which repairs the double ...
Anjali Chouksey
doaj   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source