Results 171 to 180 of about 104,697 (299)

<i>HSD17B4</i>-Related Disorder: Defining the Phenotype in Adult-Onset Patients. [PDF]

Neurol Genet
Falcone GMI, Tessa A, Rizzo C, Semeraro M, Barghigiani M, Santorelli FM, Musumeci O.   +6 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

A Case of Persistent Ataxia and Atypical Brain Lesions: From the National Multiple Sclerosis Society Case Conference Proceedings. [PDF]

Neurol Neuroimmunol Neuroinflamm
Rodin RE, Manzano GS, Klawiter EC, Chwalisz BK, Zamvil SS, Goldman MD, Riley C, Chitnis T.   +7 more
europepmc   +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

Synaptophysin autoantibodies mediate synaptic dysfunction in cerebellar ataxia. [PDF]

Cell Rep Med
Ho S, Wong HK, Shqau D, Winklmeier S, Grobe-Einsler M, Rostasy K, Kümpfel T, Thaler FS, Brimberg L, Schneider MA, Muley T, Vural A, Seifert-Held T, Endmayr V, Höftberger R, Faber J, Klopstock T, Frahm S, Gerdes LA, Meinl E, Mader S.   +20 more
europepmc   +1 more source

Early Neuroimmune Modulation in Hereditary Cerebellar Ataxias: Experimental Opportunities in Zebrafish Models. [PDF]

Cells
Naef V, Giacich M, Damiani D, Santorelli FM.   +3 more
europepmc   +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

Arthritis &Rheumatology, EarlyView.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan, Emma R. Dorris, Maria Inês Pimenta, Jemma Falkov, Matthew Fisher, Sam Pledger, Hector Devey, Munitta Muthana, Denis C. Shields, Richard E. Mains, Betty A. Eipper, Christopher D. Buckley, Anthony G. Wilson   +12 more
wiley   +1 more source

Suspicion of cerebellar diseases

Practica Oto-Rhino-Laryngologica, 1978
Sakata, Kazuki, Nakajo, Takeshi
openaire   +3 more sources

Congenital central nervous system malformations in piedmontese calves-part 1. structural brain disorders. [PDF]

Front Vet Sci
Ferrini S, Scaglione F, Cagnotti G, Borriello G, Cantile C, Castelli M, Catania AM, Di Muro G, Grego E, Manassero L, Quaglino A, Tessarolo C, Tomassone L, Valazza A, Bellino C, D'Angelo A.   +15 more
europepmc   +1 more source

Development of interactive MRI‐based 3D visualization tools for neuroanatomy education in Latin America

Anatomical Sciences Education, EarlyView.
Abstract The study of neuroanatomy is fundamental in many scientific fields. Despite this, it is a challenging subject for students. As technology evolves, it is being increasingly incorporated into educational methods, including the teaching of neuroanatomy. Three‐dimensional (3D) visualizations are well suited for displaying neuroanatomy.
Merlin J. Fair, Diego Cureño, Alejandro De León Cuevas, Paola Ocampo Luna, Marta Bianciardi, María G. García‐Gomar   +5 more
wiley   +1 more source