Results 131 to 140 of about 2,519,053 (161)

A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine. [PDF]

Intractable Rare Dis Res, 2019
Algahtani H, Shirah B, Algahtani R, Al-Qahtani MH, Abdulkareem AA, Naseer MI.   +5 more
europepmc   +1 more source

Case Report: Thymoma-associated stiff person syndrome and myasthenia gravis: an index case with exploratory exome sequencing and review of reported cases. [PDF]

Front Oncol
Zhao L, Fang L, Tang M, Zhang K, Liu W, Qiang M.   +5 more
europepmc   +1 more source

Artificial intelligence-assisted clinical exome sequencing: Insights and outcomes from 822 pediatric diagnoses. [PDF]

Genet Med Open
Pan Y, Danley P, Kramer T, Noruzinia M, Buser K, Yatsenko AN, Bellissimo D, Guo F.   +7 more
europepmc   +1 more source

Migraine in children and adolescents. [PDF]

Dev Med Child Neurol
Abu-Arafeh I.
europepmc   +1 more source

CACNA1A Genetic Variants and Their Potential Involvement in Migraine Pathogenesis. [PDF]

Int J Mol Sci
Szymanowicz O, Słowikowski B, Poszwa J, Goutor U, Wiszniewska M, Jagodziński PP, Kozubski W, Dorszewska J.   +7 more
europepmc   +1 more source

Mitochondrial and lysosomal dysfunctions might be involved in the pathogenesis of the CACNA1A-related neurodevelopmental disorders according to in vitro studies. [PDF]

Biol Res
Kessi M, Pan L, Chen B, Yang L, Yang L, Bamgbade OA, Wang G, Peng J, Yin F, He F.   +9 more
europepmc   +1 more source

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Farbood Z, Dehghanian F, Masoudi M, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +7 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia. [PDF]

Ann Clin Transl Neurol
Cameron D, Clifton NE, de la Fuente DC, Holmans P, Bray NJ, Peall KJ.   +5 more
europepmc   +1 more source

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications. [PDF]

Mov Disord
Indelicato E, Fleszar Z, Pellerin D, Nachbauer W, Zuchner S, Traschütz A, Amprosi M, Schöls L, Haack TB, Brais B, Boesch S, Synofzik M.   +11 more
europepmc   +1 more source

Resting-State EEG Analysis Characterizes the Signature of CACNA1A-and GAA-FGF14-Related Channelopathies. [PDF]

Cerebellum
Angerbauer R, Unterberger I, Nachbauer W, Amprosi M, Boesch S, Cesari M, Indelicato E.   +6 more
europepmc   +1 more source