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A de novo missense mutation in the inositol 1,4,5‐triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1‐related spinocerebellar ataxia's
1个月前
已完结
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
1个月前
已完结
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
1个月前
已完结
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
1个月前
已完结
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish
3个月前
已完结
Update on RYR1-related myopathies
5个月前
已完结
Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives
7个月前
已完结
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