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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling, Rebekah K; Assoum, Mirna; Gakh, Oleksandr; Blaser, Susan; Raiman, Julian A; Mignot, Cyril; Roze, Emmanuel; Dürr, Alexandra; Brice, Alexis; Lévy, Nicolas; Prasad, Chitra; Paton, Tara; Paterson, Andrew D; Roslin, Nicole M; Marshall, Christian R; Desvignes, Jean-Pierre; Roëckel-Trevisiol, Nathalie; Scherer, Stephen W; Rouleau, Guy A; Mégarbané, André; Isaya, Grazia; Delague, Valérie; Yoon, Grace.
Affiliation
  • Jobling RK; 1 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Assoum M; 2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France.
  • Gakh O; 4 Department of Paediatric and Adolescent Medicine and Mayo Clinic Children's Centre, Mayo Clinic, Rochester, MN, USA.
  • Blaser S; 5 Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Raiman JA; 1 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Mignot C; 6 Département de Génétique, Unité de Génétique Clinique, APHP, Groupe Hospitalier Pitié-Salpêtrière; Centre de Référence Maladies Rares 'Déficiences Intellectuelles de Causes Rares'; Groupe de Recherche Clinique UPMC Univ Paris 06; Paris, France.
  • Roze E; 7 Sorbonne Université, UPMC Univ Paris 06, UM 75, ICM, F-75013 Paris, France 8 Inserm, U 1127, ICM, F-75013 Paris, France 9 Cnrs, UMR 7225, ICM, F-75013 Paris, France 10 ICM, Paris, F-75013 Paris, France 11 AP-HP, Hôpital de la Salpêtrière, Département de Neurologie, F-75013, Paris, France.
  • Dürr A; 7 Sorbonne Université, UPMC Univ Paris 06, UM 75, ICM, F-75013 Paris, France 8 Inserm, U 1127, ICM, F-75013 Paris, France 9 Cnrs, UMR 7225, ICM, F-75013 Paris, France 10 ICM, Paris, F-75013 Paris, France 12 AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, F-75013, Paris,
  • Brice A; 7 Sorbonne Université, UPMC Univ Paris 06, UM 75, ICM, F-75013 Paris, France 8 Inserm, U 1127, ICM, F-75013 Paris, France 9 Cnrs, UMR 7225, ICM, F-75013 Paris, France 10 ICM, Paris, F-75013 Paris, France 12 AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, F-75013, Paris,
  • Lévy N; 2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France 13 Département de Génétique Médicale, Hôpital d'Enfants de la Timone, AP-HM, Marseille, France.
  • Prasad C; 14 Medical Genetics Program, Department of Pediatrics, London Health Sciences Centre, London, Ontario, Canada.
  • Paton T; 15 The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Paterson AD; 15 The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Roslin NM; 15 The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Marshall CR; 15 The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Desvignes JP; 2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France.
  • Roëckel-Trevisiol N; 2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France.
  • Scherer SW; 15 The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada 16 McLaughlin Centre and Department of Molecular Genetics, University of Toronto.
  • Rouleau GA; 17 Montreal Neurological Institute and Hospital and Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Mégarbané A; 18 Unité de Génétique Médicale and Laboratoire Associé Inserm UMR S_910, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon 19 Institut Jérôme Lejeune, Paris, France.
  • Isaya G; 4 Department of Paediatric and Adolescent Medicine and Mayo Clinic Children's Centre, Mayo Clinic, Rochester, MN, USA.
  • Delague V; 2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France grace.yoon@utoronto.ca valerie.delague@univ-amu.fr.
  • Yoon G; 1 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada 20 Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada grace.yoon@utoronto.ca valerie.delague@univ-amu.fr.
Brain ; 138(Pt 6): 1505-17, 2015 Jun.
Article in En | MEDLINE | ID: mdl-25808372
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Metalloendopeptidases / Spinocerebellar Degenerations / Protein Subunits / Mitochondrial Proteins / Mutation Type of study: Prognostic_studies Limits: Adult / Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Brain Year: 2015 Type: Article Affiliation country: Canada
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Metalloendopeptidases / Spinocerebellar Degenerations / Protein Subunits / Mitochondrial Proteins / Mutation Type of study: Prognostic_studies Limits: Adult / Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Brain Year: 2015 Type: Article Affiliation country: Canada