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1.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Mov Disord
; 39(3): 486-497, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38197134
2.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Article
in English
| MEDLINE | ID: mdl-38480682
3.
Generation of TWO G51D SNCA missense mutation iPSC lines (CRICKi011-A, CRICKi012-A) from two individuals at risk of Parkinson's disease.
Stem Cell Res
; 71: 103134, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37336145
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