Výsledky vyhledávání - "Toby Charles Major"

Akademický článek

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

Autor: Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F. Chinnery, Catarina Olimpio, Rita Horvath

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

BackgroundLeber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to

Externí odkaz: https://doaj.org/article/48c871d2ccba431b9451d553f5fb705c

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Akademický článek

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.

Autor: Major, Toby Charles, Arany, Eszter Sara, Schon, Katherine, Simo, Magdolna, Karcagi, Veronika, van den Ameele, Jelle, Patrick Yu Wai Man, Chinnery, Patrick F., Olimpio, Catarina, Horvath, Rita

Publikováno v: Frontiers in Neurology; 2023, p1-8, 8p

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Periodical

Researchers at University of Cambridge Publish New Study Findings on Optic Nerve Diseases and Conditions (Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European...).

Publikováno v: Genomics & Genetics Weekly; 12/22/2023, p1957-1957, 1p

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