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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio, Emil; Woldegebriel, Rosa; Tumiati, Manuela; Isohanni, Pirjo; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Sawyer, Sarah L; Bell, Katrina M; Oshlack, Alicia; Lockhart, Paul J; Shcherbii, Mariia; Estrada-Cuzcano, Alejandro; Atkinson, Derek; Hartley, Taila; Tetreault, Martine; Cuppen, Inge; van der Pol, W Ludo; Candayan, Ayse; Battaloglu, Esra; Parman, Yesim; van Gassen, Koen L I; van den Boogaard, Marie-José H; Boycott, Kym M; Kauppi, Liisa; Jordanova, Albena; Lönnqvist, Tuula; Tyynismaa, Henna.
Afiliación
  • Ylikallio E; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland.
  • Woldegebriel R; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland.
  • Tumiati M; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland.
  • Isohanni P; Research Programs Unit, Genome-Scale Biology, University of Helsinki, 00290 Helsinki, Finland.
  • Ryan MM; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland.
  • Stark Z; Department of Child Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland.
  • Walsh M; Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia.
  • Sawyer SL; Royal Children's Hospital, Melbourne, Victoria, 3052, Australia.
  • Bell KM; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia.
  • Oshlack A; Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia.
  • Lockhart PJ; Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia.
  • Shcherbii M; Department of Genetics and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.
  • Estrada-Cuzcano A; Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia.
  • Atkinson D; Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia.
  • Hartley T; Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia.
  • Tetreault M; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia.
  • Cuppen I; Bruce Lefroy Centre, Murdoch Childrens Research Institute, Melbourne, Victoria, 3052, Australia.
  • van der Pol WL; Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland.
  • Candayan A; Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, 2610 Antwerpen, Belgium.
  • Battaloglu E; Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, 2610 Antwerpen, Belgium.
  • Parman Y; Department of Genetics and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.
  • van Gassen KLI; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
  • van den Boogaard MH; McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada.
  • Boycott KM; Department of Paediatric Neurology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kauppi L; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands.
  • Jordanova A; Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey.
  • Lönnqvist T; Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey.
  • Tyynismaa H; Istanbul University, Istanbul Medical School, Department of Neurology, Istanbul, Turkey.
Brain ; 140(8): 2093-2103, 2017 Aug 01.
Article en En | MEDLINE | ID: mdl-28633435
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acetiltransferasas / Enfermedad de Charcot-Marie-Tooth / Predisposición Genética a la Enfermedad / Péptidos y Proteínas de Señalización Intracelular / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acetiltransferasas / Enfermedad de Charcot-Marie-Tooth / Predisposición Genética a la Enfermedad / Péptidos y Proteínas de Señalización Intracelular / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2017 Tipo del documento: Article País de afiliación: Finlandia