Results 121 to 130 of about 5,459 (165)

Population-scale repeat expansions elucidate disease risk and brain atrophy. [PDF]

Nature
Pounraja VK, Sul JH, Herman J, O'Keeffe S, Rajagopal V, Bai X, Kessler MD, Parikshak N, Landheer K, Zhang X, Yu S, Zhang L, LeBlanc MG, Rico-Varela J, Grau F, Wolf S, Sundaramoorthy S, Sepehrband F, Stahl EA, Huo Y, Ahmed M, Croll S, GHS-RGC DiscovEHR Collaboration, Mayo-RGC Project Generation, Penn Medicine BioBank, Salerno W, Overton JD, Marchini J, Reid J, Lotta LA, Baras A, Regeneron Genetics Center, Abecasis GR, Coppola G, Gelfman S.   +34 more
europepmc   +1 more source

The Many Faces of CACNA1A. Exploring the Impact of CACNA1A Variants on Human Neuronal Network Development

Contains fulltext : 325514.pdf (Publisher’s version ) (Open Access)The CACNA1A gene codes for a crucial component of calcium channels in the brain, which help regulate electrical signals between nerve cells.
Hommersom, M.P.
core  

When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder. [PDF]

Case Rep Neurol
Goossens A, Delabie AL, Demaret T, Karadurmus D, Pignato V.   +4 more
europepmc   +1 more source

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

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

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort. [PDF]

Int J Mol Sci
Khojakulov Z, Palvadeau RJ, Kovancılar-Koç M, Atay I, Şahbaz I, Tekgül Ş, Şahin A, Badakal EZD, Gül-Demirkale T, Çiftçi V, Bayraktar E, Tunca C, Smolina N, Akçimen F, Başak AN.   +14 more
europepmc   +1 more source

Huntington's Disease-like Syndrome as a Rare Presentation of CACNA1A-Related Disorder. [PDF]

Mov Disord Clin Pract
Boumis P, Potagas C, Koros C, Constantinides V, Ragazos N, Koniari C, Aristeidou S, Kartanou C, Linardaki E, Tavernarakis N, Anagnostou E, Stefanis L, Papageorgiou S, Karadima G, Koutsis G.   +14 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

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

Serum proteomic signatures and an immune-calcium signaling cascade associated with antipsychotic-related erectile dysfunction in schizophrenia. [PDF]

Sci Rep
Zhou YF, Wu SW, Wen X, Wang YT, Ye JR, Li AQ, Ding GA, Xiao AX, Guo JX.   +8 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