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Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Nesti, Claudia; Ticci, Chiara; Rubegni, Anna; Doccini, Stefano; Scaturro, Giusi; Vetro, Annalisa; Guerrini, Renzo; Santorelli, Filippo M; Procopio, Elena.
  • Nesti C; Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128, Pisa, Italy. claudia.nesti@fsm.unipi.it.
  • Ticci C; Neuroscience Department, IRCCS Meyer Children's Hospital, Florence, Italy.
  • Rubegni A; Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128, Pisa, Italy. anna.rubegni@fsm.unipi.it.
  • Doccini S; Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128, Pisa, Italy.
  • Scaturro G; Neuroscience Department, IRCCS Meyer Children's Hospital, Florence, Italy.
  • Vetro A; Neuroscience Department, IRCCS Meyer Children's Hospital, Florence, Italy.
  • Guerrini R; Neuroscience Department, IRCCS Meyer Children's Hospital, Florence, Italy.
  • Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128, Pisa, Italy.
  • Procopio E; Neuroscience Department, IRCCS Meyer Children's Hospital, Florence, Italy.
J Neurol ; 270(6): 3266-3269, 2023 06.
Article en En | MEDLINE | ID: mdl-36939934

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Leigh Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article