Lv4
478 积分 2024-10-21 加入
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
1小时前
待确认
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia
2小时前
已完结
Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre‐ataxic Spinocerebellar Ataxia Type 3 Patients
20天前
已完结
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
1个月前
已完结
Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre‐ataxic Spinocerebellar Ataxia Type 3 Patients
1个月前
已完结
Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients
1个月前
已完结
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
1个月前
已完结
Hereditary ataxias and paraparesias: clinical and genetic update
1个月前
已关闭
Digenic FLNA and UCHL1 variants resulting in a complex phenotype
1个月前
已完结
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79
1个月前
已完结
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