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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Nasca, Alessia; Scotton, Chiara; Zaharieva, Irina; Neri, Marcella; Selvatici, Rita; Magnusson, Olafur Thor; Gal, Aniko; Weaver, David; Rossi, Rachele; Armaroli, Annarita; Pane, Marika; Phadke, Rahul; Sarkozy, Anna; Muntoni, Francesco; Hughes, Imelda; Cecconi, Antonella; Hajnóczky, György; Donati, Alice; Mercuri, Eugenio; Zeviani, Massimo; Ferlini, Alessandra; Ghezzi, Daniele.
Afiliação
  • Nasca A; Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute Besta, Milan, Italy.
  • Scotton C; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Zaharieva I; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.
  • Neri M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Selvatici R; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Magnusson OT; deCODE Genetics, Reykjavik, Iceland.
  • Gal A; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.
  • Weaver D; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.
  • Rossi R; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.
  • Armaroli A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Pane M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Phadke R; Neuropsichiatry Unit, Catholic University, Policlinico Gemelli, Rome, Italy.
  • Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.
  • Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.
  • Hughes I; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.
  • Cecconi A; Royal Manchester Children's Hospital, Manchester, UK.
  • Hajnóczky G; Pediatrics Medical Genetics, Hospital S. Maria Annunziata Bagno a Ripoli, Florence, Italy.
  • Donati A; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania.
  • Mercuri E; Unit of Metabolic and Muscular Diseases, Meyer Children Hospital, Florence, Italy.
  • Zeviani M; Neuropsichiatry Unit, Catholic University, Policlinico Gemelli, Rome, Italy.
  • Ferlini A; Mitochondrial Biology Unit - MRC, Cambridge, UK.
  • Ghezzi D; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Hum Mutat ; 38(8): 970-977, 2017 08.
Article em En | MEDLINE | ID: mdl-28544275
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Proteínas de Ciclo Celular / Proteínas do Citoesqueleto / Dinâmica Mitocondrial / Doenças Musculares / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Proteínas de Ciclo Celular / Proteínas do Citoesqueleto / Dinâmica Mitocondrial / Doenças Musculares / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália