NDUFAF5 variants cause early onset Leigh syndrome.

Autor: Massuyama BK; Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil. Electronic address: breno.massuyama@gmail.com., Viagi AM; General Neurology Division, Albert Einstein Israeli Institute of Education and Research, São Paulo, Brazil., Claudino de Queiroga RC; Department of Neurology, Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil., Camurugy da Hora RP; Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil., Procaci VR; Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil., Reis Rosa AB; Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil., Tonholo Silva TY; Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil., Povoas Barsottini OG; Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil., Pedroso JL; Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
Jazyk: angličtina
Zdroj: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Dec 09; Vol. 131, pp. 107227. Date of Electronic Publication: 2024 Dec 09.
DOI: 10.1016/j.parkreldis.2024.107227
Abstrakt: Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
Databáze: MEDLINE