Associated Papers
SCN2A-linked myelination deficits and synaptic plasticity alterations drive auditory processing disorders in ASD.
Kim JH et al.
Research Square, 2024
Scn2a deletion disrupts oligodendroglia function: Implication for myelination, neural circuitry, and auditory hypersensitivity in ASD.
Bae HG et al.
Biorxiv : the Preprint Server for Biology, 2024
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T et al.
Genes, 2022
35205364 (PubMed )
Supplement: genes-13-00318-s001.zip › genes-1565631-SI.pdf
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Catusi I et al.
Genes, 2021
Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension.
McCray BA et al.
Nature Communications, 2021
Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.
Apellániz-Ruiz M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs.
Ekenstedt KJ et al.
Plos Genetics, 2014
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Høyer H et al.
Biomed Research International, 2014
25025039 (PubMed )
Supplement: 210401.f1.pdf
Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10).
Chaya T et al.
The Journal of Biological Chemistry, 2011
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