Výsledky vyhledávání - "Leah Ferrante"

Novel use of nusinersen as a therapeutic bridge to onasemnogene abeparvovec‐xioi in a premature neonate with type 1 spinal muscular atrophy

Autor: Leah Ferrante, Alexandria Melendez‐Zaidi, Wilfreda Lindsey, Timothy Lotze

Publikováno v: Muscle & Nerve. 66

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfa14325bb598da8955acecc4cb0d67
https://doi.org/10.1002/mus.27648

Zobrazit plný text záznamu

Autor: Danielle Takacs, Daniel G. Calame, Kayla Pence, Hsiao-Tuan Chao, Meagan Hainlen, Lisa Emrick, Leah Ferrante

Publikováno v: Neurology: Genetics
article-version (Version of Record) 3

ObjectiveTo demonstrate that de novo missense single nucleotide variants (SNVs) in EIF2AK2 cause a neurodevelopmental disorder with leukoencephalopathy resembling Pelizaeus-Merzbacher disease (PMD).MethodsA retrospective chart review was performed of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d976810887dceeedeb880dab89bceb
https://doi.org/10.1212/nxg.0000000000000539

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání