L., . et al. 0 C.; Cardoso spastic paraplegia and skewed pattern of X inactivation;;;;;;;eng;;;;;PubMed;;PMID: 10417298 PMCID: PMC1377954 - issue: - volume: - pages: .
p.(Thr493Asn) and p.(Gly496Arg), . et al. 0 were located in the transmembrane domains S3 and S6 of Kv10.1 and one - issue: - volume: - pages: .
A l A q e e l A I, . et al. 0 A l h a s h e m A D o u m m a r D I s s a M Y - issue: K e r e n B - volume: K u e c h l e r A - pages: H o r n D .
Hum Mol Genet. 2024 Feb 28, . et al. 0 Khosrowabadi E 10.1093/hmg/ddad203 - issue: - volume: - pages: .
Beate, . et al. 0 Aida I.; Alhashem Nathalie; Doummar Samira; Issa - issue: Kiely; Keren - volume: Boris; Kuechler - pages: Delphine; Horn.
consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, . et al. 0 biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia hypotonia - issue: - volume: - pages: .