Lv4
468 积分 2024-11-09 加入
PIGA variants are associated with focal epilepsy with favorable outcome and the sub-molecular effect
1个月前
已完结
Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2
3个月前
已完结
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma
4个月前
已完结
A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells
4个月前
已完结
Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management
6个月前
已完结
A case of Fragile X-associated tremor/ataxia syndrome (FXTAS)
6个月前
已完结
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
6个月前
已完结
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
6个月前
已关闭
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
6个月前
已完结
l-Serine synthesis in the central nervous system: A review on serine deficiency disorders
7个月前
已完结
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