Lv1
28 积分 2026-07-01 加入
Disruption of the toxic conformation of the expanded polyglutamine stretch leads to suppression of aggregate formation and cytotoxicity
23天前
已完结
Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2)
23天前
已完结
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations
1个月前
已完结
Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene
1个月前
已完结
Usefulness of MALDUTOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
1个月前
已完结
Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson's disease by whole-exome sequencing
1个月前
已完结
Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemia
2个月前
已完结
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