Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Dona Aboud Syriani"'
Autor:
Brent L. Fogel, Giacomo Glotzer, Christopher M. Gomez, Susan Perlman, Vikram Khurana, Yuanming Mao, Paul J. Lockhart, Darice Wong, Dona Aboud Syriani, Claudio M. de Gusmao, Soma Das, Sharon Hassin-Baer, Sameer Andani
ObjectiveRepeat expansions in RFC1 and DAB1 have recently been identified as causing cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) and spinocerebellar ataxia 37 (SCA37), respectively. We evaluated the prevalence of these r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57179596a9591b823d2d569a3cf5a93
Autor:
Susan Perlman, Darice Wong, Paul J. Lockhart, Dona Aboud Syriani, Brent L. Fogel, Christopher M. Gomez, Vikram Khurana, Soma Das, Claudio M. de Gusmao, Yuanming Mao, May Sanyoura, Sharon Hassin-Baer, Sameer Andani, Giacomo Glotzer
Publikováno v:
Neurology: Genetics
ObjectiveWe evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America.MethodsA cohort of 596 predominantly adult-onset pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3866e41e06d90e1d4597dfe860ddb9c2
https://doi.org/10.1212/nxg.0000000000000440
https://doi.org/10.1212/nxg.0000000000000440
Publikováno v:
Annals of Neurology; Oct2020 Supplement S25, Vol. 88, pS1-S280, 280p