Results 131 to 140 of about 7,269 (167)

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. [PDF]

Mol Genet Genomic Med, 2016
Maksemous N, Roy B, Smith RA, Griffiths LR.   +3 more
europepmc   +1 more source

The first knockin mouse model of episodic ataxia type 2. [PDF]

Exp Neurol, 2014
Rose SJ, Kriener LH, Heinzer AK, Fan X, Raike RS, van den Maagdenberg AM, Hess EJ.   +6 more
europepmc   +1 more source

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. [PDF]

Brain, 2016
Tomlinson SE, Tan SV, Burke D, Labrum RW, Haworth A, Gibbons VS, Sweeney MG, Griggs RC, Kullmann DM, Bostock H, Hanna MG.   +10 more
europepmc   +1 more source

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings. [PDF]

Cerebellum
Rashedi R, Peemöller F, Erdmann H, Gelderblom M, Hidding U, Ganos C, Chen R, Abicht A, Zittel S.   +8 more
europepmc   +1 more source

Cerebellar Cognitive Affective Syndrome in Spinocerebellar Ataxia Type 6. [PDF]

Cerebellum
Machado FM, Massuyama BK, Gomes JS, França MC, Barsottini OGP, Pedroso JL.   +5 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

Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca_v2.1 (P/Q-Type) Calcium Channels. [PDF]

J Neurosci, 2017
Fu SJ, Jeng CJ, Ma CH, Peng YJ, Lee CM, Fang YC, Lee YC, Tang SC, Hu MC, Tang CY.   +9 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

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder. [PDF]

Clin Case Rep
Venkataramana Reddy K, Daggu A, Mudiyala SR, Gangapuram SR, Geethika M, Samineni LN.   +5 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