Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

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http://www.wikidata.org/entity/Q36891484
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysisProtection against TBI-Induced Neuronal Death with Post-Treatment with a Selective Calpain-2 Inhibitor in Mice.Calpain research for drug discovery: challenges and potential.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Novel calpain families and novel mechanisms for calpain regulation in Aplysia.KCNA2 mutations are rare in hereditary spastic paraplegia.Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.Analysis of the neurotoxic effects of neuropathic organophosphorus compounds in adult zebrafish.CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.
P2860

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Item
http://www.wikidata.org/entity/Q36891484
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
@en
type
label
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
@en
prefLabel
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2016.04.002
P407
P433
P478
P50
P577
P698
P932