Results 121 to 130 of about 2,519,053 (161)

Neural Correlates of Intellectual Dysfunction in Episodic Ataxia Type 2. [PDF]

J Clin Neurol
Kim HJ, Lee ES, Kim S, Lee SH, Kim JM, Na S, Choi JY, Choi JH, Kim JS.   +8 more
europepmc   +1 more source

A novel de novo pathogenic mutation in the CACNA1A gene. [PDF]

Mov Disord, 2012
Fujioka S, Rayaprolu S, Sundal C, Broderick DF, Langley WA, Shoffner J, Hyams LC, Rademakers R, Graff-Radford NR, Tatum W, Ross OA, Wszolek ZK.   +11 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

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

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

Intellectual disability and structural defects of the CaV2.1 channel in episodic ataxia type 2: correlation using an AI prediction model. [PDF]

J Neurol
Kim HJ, Lee JO, Lee S, Kim S, Kim JS.
europepmc   +1 more source

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders. [PDF]

Stem Cell Reports
Hommersom MP, Puvogel S, Scheefhals N, Carpentiero E, Bouma M, van Beusekom E, Dillen L, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H.   +9 more
europepmc   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service. [PDF]

Alcohol Clin Exp Res (Hoboken)
Byrnes S, Collins F, Elliott E.
europepmc   +1 more source

Adrenergic receptor activation triggers stress-induced dystonia in a CACNA1A mutant mouse model. [PDF]

Front Neurosci
Bohne P, Grömmke M, Rybarski M, Nair T, Mark MD.   +4 more
europepmc   +1 more source