Lv41
548 积分 2024-10-21 加入
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
13小时前
待确认
A helminth cathelicidin‐like protein suppresses antigen processing and presentation in macrophagesviainhibition of lysosomal vATPase
14天前
已完结
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
15天前
已完结
The genetic cause of neurodevelopmental disorders in 30 consanguineous families
16天前
已完结
Clinical Manifestations Associated with the Domain-Containing Protein 2 Gene Mutation in an Iranian Family with Spastic Paraplegia 54
16天前
已完结
Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54
16天前
已完结
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
16天前
已完结
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum
16天前
已完结
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
16天前
已完结
The “broken wishbone” splenial sign: A diagnostic hallmark for SPG54 spastic ataxia
16天前
已完结
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