A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies ; volume:19 ; number:1 ; day:16 ; month:5 ; year:2024 ; pages:1-9 ; date:12.2024
Orphanet journal of rare diseases ; 19, Heft 1 (16.5.2024), 1-9, 12.2024

Creator: Sala, Daniele
Marchet, Silvia
Nanetti, Lorenzo
Legati, Andrea
Mariotti, Caterina
Lamantea, Eleonora
Ghezzi, Daniele
Catania, Alessia
Lamperti, Costanza

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-024-03212-y

URN: urn:nbn:de:101:1-2407252115154.905534004251

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:55 AM CEST

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Associated

Sala, Daniele
Marchet, Silvia
Nanetti, Lorenzo
Legati, Andrea
Mariotti, Caterina
Lamantea, Eleonora
Ghezzi, Daniele
Catania, Alessia
Lamperti, Costanza
SpringerLink (Online service)

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A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

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Other Objects (12)

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sim1000G: a user-friendly genetic variant simulator in R for unrelated individuals and family-based designs

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