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Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.
Giacomini, Thea; Gamucci, Alessandra; Pisciotta, Livia; Nesti, Claudia; Fiorillo, Chiara; Doccini, Stefano; Morana, Giovanni; Nobili, Lino; Santorelli, Filippo M; Mancardi, Maria Margherita; De Grandis, Elisa.
Afiliação
  • Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.
  • Gamucci A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.
  • Pisciotta L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.
  • Nesti C; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.
  • Doccini S; Unit of Paediatric Neurology and Muscular Diseases, IRCSS Istituto Giannina Gaslini, Genoa, Italy.
  • Morana G; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Nobili L; Unit of Neuroradiology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Santorelli FM; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.
  • Mancardi MM; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • De Grandis E; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Neuropediatrics ; 51(6): 425-429, 2020 12.
Article em En | MEDLINE | ID: mdl-32392611
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Atrofia Óptica / Coreia / Proteínas Mitocondriais Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Neuropediatrics Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Atrofia Óptica / Coreia / Proteínas Mitocondriais Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Neuropediatrics Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália