Lv4
628 积分 2024-10-21 加入
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family
1天前
待确认
Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy
1天前
待确认
DDHD2 promotes lipid droplet catabolism by acting as a TAG lipase and a cargo receptor for lipophagy
1个月前
已完结
ESCRT-I protein UBAP1 controls ventricular expansion and cortical neurogenesis via modulating adherens junctions of radial glial cells
1个月前
已完结
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)
1个月前
已完结
Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model
2个月前
已完结
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy
2个月前
已完结
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
2个月前
已完结
A Homoplasmic MT‐TV Mutation Associated with Mitochondrial Inheritance of Hereditary Spastic Paraplegia
2个月前
已完结
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
2个月前
已完结
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