Hereditary spastic paraplegia (HSP) denotes genetically heterogeneous disorders (SPGs) characterized by leg spasticity due to degeneration of corticospinal axons. SPG11 and SPG15 have a similar clinic

DataCite Commons2021-05-13 更新40

Identification of autosomal recessive spastic paraplegia with cerebellar ataxia and neuropathy. Homo sapiens

遗传性痉挛性截瘫

Chediak-Higashi综合征

Objective: To identify the gene mutation responsible for a family presenting spastic paraplegia, cerebellar ataxia and neuropathy with autosomal recessive transmission. Background: Autosomal recessive

NIAID Data Ecosystem50

Additional file 1: of Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

遗传性痉挛性截瘫

中国人群突变谱

Summary information for mutational spectrum, targeted sequencing genes, amplification primers, antibodies, clinical features and haplotype analysis. Table S1. A reanalysis of the mutational spectrum i

NIAID Data Ecosystem40

Pre-clinical Development Of AP4B1 Gene Replacement Therapy For Hereditary Spastic Paraplegia Type 47

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