Results 111 to 120 of about 2,519,053 (161)

Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells. [PDF]

Stem Cells Dev, 2017
Bavassano C, Eigentler A, Stanika R, Obermair GJ, Boesch S, Dechant G, Nat R.   +6 more
europepmc   +1 more source

Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Xu Y, Wang Z, Sun Q, Zhou L, Xu H, Hu Y.
europepmc   +1 more source

Hemiplegic migraine: genetics and pathophysiology. [PDF]

J Clin Invest
Pietrobon D.
europepmc   +1 more source

Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes. [PDF]

J Neurol
Maher BH, Maksemous N, Sutherland HG, Smith RA, Dabash O, Greenhow A, Nasralla FA, Nyholt DR, van den Maagdenberg AMJM, Lea RA, Griffiths LR.   +10 more
europepmc   +1 more source

CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine. [PDF]

BMC Neurol
Long Z, Gong S, Ji D, Guo X, Sui L, Yang X, Yu J.   +6 more
europepmc   +1 more source

Association of single nucleotide polymorphisms of CACNA1A gene in migraine. [PDF]

Indian J Hum Genet, 2014
Bashir A, Saleem S, Wani M, Rasool R, Wani IY, Gulnar A, Verma S.   +6 more
europepmc   +1 more source

Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings. [PDF]

Front Neurol
de Gusmao CM, Garcia LHMR, Mink JW, Paciorkowski AR, Pringsheim T, Della Ripa BA, Rauffus CS, Coan AC, Silveira-Moriyama L.   +8 more
europepmc   +1 more source

Moving in Tandem: Epilepsy-Dyskinesia Syndromes. [PDF]

Epilepsy Curr
Widdess-Walsh P.
europepmc   +1 more source

Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias. [PDF]

Cerebellum
Indelicato E, Nachbauer W, Amprosi M, Pellerin D, Mangesius S, Gizewski ER, Kiechl S, Brais B, Boesch S, Krismer F, Alzheimer’s Disease Neuroimaging Initiative.   +10 more
europepmc   +1 more source

Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants. [PDF]

Diagnostics (Basel)
Damian GC, Belengeanu V, Popescu C, Marian D, Popovici RA, Cojocariu C.   +5 more
europepmc   +1 more source