Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kathleen Le Marquand"'
Autor:
Masahiro Nishide, Kathleen Le Marquand, Mark R. Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Peter K. Panegyres, Kishore R. Kumar
Publikováno v:
The Cerebellum.
Autosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf973a767b491b071313ce2eba8038e5
https://doi.org/10.1007/s12311-023-01522-8
https://doi.org/10.1007/s12311-023-01522-8
Autor:
Masahiro Nishide, Kathleen Le Marquand, Mark Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Kishore R. Kumar
Autosomal dominant disease-causing variants in the ELOVL4 gene (Elongation of Very Long Chain Fatty Acids-like 4) cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49c9a545e2d968c3b273a659f6b67cb2
https://doi.org/10.21203/rs.3.rs-2198569/v1
https://doi.org/10.21203/rs.3.rs-2198569/v1
