Results 171 to 180 of about 186,958 (312)

Ataxia-telangiectasia: future prospects

, 2014
Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by
Al-Baradie RS, Chaudhary MW
core  

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

Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

, 2011
Includes bibliographical references (leaves 106-116).Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have
Berkowitz, Danielle Claire
core  

An International Survey of Patients with Ataxia: Trends in Patient-Reported Symptoms. [PDF]

Cerebellum
Suart C, Alcott A, Shogren L, Trace K, Rosenthal LS, Moore L.   +5 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

Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis. [PDF]

Neurol Res Pract
Eumann R, Krahe J, Dogan I, Costa AS, Schulz JB, Lischewski SA, Reetz K, FACROSS Study Group.   +7 more
europepmc   +1 more source

Proinflammatory Epstein–Barr Virus Antibody Functions Track with Disease Activity in Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Epstein–Barr virus (EBV) has been implicated in the pathogenesis of multiple sclerosis (MS). Elevated immunoglobulin G (IgG) titers against EBV nuclear antigen 1 (EBNA1) represent the most consistent serological marker of MS risk, with levels remaining persistently elevated following disease onset.
Malina Behrens, Paula Terroba‐Navajas, Eline A.J. Willemse, Sabine Schädelin, Manuel Comabella, Christian Münz, Gordan Lauc, Yannic Bartsch, Jens Kuhle, Jan D. Lünemann   +9 more
wiley   +1 more source

A Case Report of Reversible Mitochondrial Bioenergetic Dysfunction in PBMCs in Anti-GAD65-Associated Cerebellar Ataxia. [PDF]

Cerebellum
Huňarová N, Verešpejová AI, Grófik M, Sivák Š, Kurča E, Kolísek M, Skáčik P.   +6 more
europepmc   +1 more source

Early Suspected Progressive Supranuclear Palsy-Cerebellar Type From MRI and Dopaminergic Imaging in a Patient Initially Presenting With Ataxia. [PDF]

J Clin Neurol
You J, Gye G, Yoon J, Kwon KY.
europepmc   +1 more source

Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study. [PDF]

Cerebellum
Matlawska M, Ziora-Jakutowicz K, Dicaire MJ, Pera J, Pellerin D, Brais B, Iruzubieta P, Elert-Dobkowska E, Sulek A.   +8 more
europepmc   +1 more source