Results 151 to 160 of about 55,413 (307)

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

iPatax: a Tablet-based Tool for Quantitative Assessment of Cerebellar Ataxia. [PDF]

Cerebellum
Nagai T, Koide S, Ishihara T, Tada M, Nishizawa M, Onodera O.   +5 more
europepmc   +1 more source

Choline chloride in the treatment of cerebellar and spinocerebellar ataxia

, 1981
The use of orally administered choline chloride in the treatment of cerebellar and spinocerebellar ataxia was investigated by a short-term double-blind crossover trial in 20 patients with ataxia. These patients, who included 7 with Friedreich's ataxia, 7
Mastaglia, F.L., Livingstone, I.R., Pennington, R.J.T., Skilbeck, C.   +3 more
core  

Diagnostic Value of Bedside Eye Movement Examination in Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Eloísa Bittencurt Thomaz de Assis, Paula Martínez Ruiz, Cristina Acosta Gudiel, Hüseyin Nezih Özdemir, Diego Kaski   +4 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

A Case of Voltage-Gated Calcium Channel and TG6 Antibody-Positive Cerebellar Ataxia. [PDF]

Case Rep Neurol Med
Cifelli A, Butt Z, Cifelli E, Hadjivassiliou M.   +3 more
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

Reduced Dopamine Transporter Uptake in Dentatorubral‐Pallidoluysian Atrophy

Movement Disorders Clinical Practice, EarlyView.
Kei Okuba, Shugo Fujita, Hitoshi Kawasaki, Genko Oyama   +3 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