Results 141 to 150 of about 5,459 (165)

Contractures of the Hands As a Prenatal Phenotype of CACNA1A-Related Disorder. [PDF]

Prenat Diagn
Menzies L, Gibbs A, Ashraf T, Beesley C, Roberts R, Chandler NJ.   +5 more
europepmc   +1 more source

A Bioinformatic Study of Genetics Involved in Determining Mild Traumatic Brain Injury Severity and Recovery. [PDF]

Biomedicines
Tajik M, Noseworthy MD.
europepmc   +1 more source

Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk. [PDF]

Front Neurol
Pelizzari S, Campiglio M, El Ghaleb Y, Bierhals T, Hempel M, Denecke J, Flucher BE, Johannsen J.   +7 more
europepmc   +1 more source

Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies. [PDF]

HGG Adv
Namuli KL, Drögemöller BI, Wright GEB.
europepmc   +1 more source

Childhood motor speech disorders: who to prioritise for genetic testing. [PDF]

Eur J Hum Genet
Van Niel H, Lauretta M, Baker E, O'Donnell L, Boulton C, Brenchley C, Coman D, Michellis E, Goel H, Thompson G, Webster R, Paxton G, Stark Z, Scheffer IE, Hildebrand MS, Amor DJ, Morgan AT.   +16 more
europepmc   +1 more source

Effectiveness and safety of anti-CGRP monoclonal antibodies in hemiplegic migraine: an individual patient quantitative analysis. [PDF]

J Headache Pain
Romozzi M, Palermo M, Danno D, Katsuki M, Tosto F, Signorelli F, Vollono C, Matsumori Y, Calabresi P, Ornello R, Iannone LF.   +10 more
europepmc   +1 more source

Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay. [PDF]

Cureus
Fernandes IF, Figueiredo AC, Parente Freixo J, Dupont J, Carvalho J.   +4 more
europepmc   +1 more source

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies [PDF]

Molecular Genetics & Genomic Medicine, 2013
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness.
Bru Cormand, Roser Pons, Roser Corominas   +2 more
exaly   +4 more sources

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Journal of the Neurological Sciences, 2010
Episodic ataxia type 2 is a rare autosomal dominant disease characterized by recurrent attacks of vertigo and cerebellar ataxia. The disease was caused by mutations in the CACNA1A gene, on chromosome 19p.
Giovanna Zorzi, Marina Frontali, Cinzia Gellera   +2 more
exaly   +2 more sources