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Expanding the Clinical Phenotype Associated WithELOVL4Mutation
9小时前
待确认
Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia
5天前
已完结
Case report of palatal tremor as a feature of CASPR2 autoimmune encephalitis
6天前
已完结
Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature
6天前
已完结
Chorea associated with vitamin B12 deficiency in adults: a case report and review of literature
6天前
已完结
Cerebellar ataxia and myeloradiculopathy associated with AP3B2 antibody: a case report and literature review
6天前
已完结
Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders
7天前
已完结
Optimal tests for rare variant effects in sequencing association studies
8天前
已完结
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands
8天前
已完结
Diagnosis and management of frontotemporal dementia: a narrative review
8天前
已完结
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