A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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1 Online-Ressource.
- Sprache
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Englisch
- Erschienen in
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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
- Urheber
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Sala, Daniele
Marchet, Silvia
Nanetti, Lorenzo
Legati, Andrea
Mariotti, Caterina
Lamantea, Eleonora
Ghezzi, Daniele
Catania, Alessia
Lamperti, Costanza
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1186/s13023-024-03212-y
- URN
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urn:nbn:de:101:1-2407252115154.905534004251
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:55 MESZ
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Beteiligte
- 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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