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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Rasic, Vedrana Milic; Baets, Jonathan; Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolic, Milos; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G; Taroni, Franco; Lunn, Michael P; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzinska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M; Houlden, Henry.
Afiliação
  • Cottenie E; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Kochanski A; Neuromuscular Unit, Mossakowski Medical Research Centre Polish Academy of Sciences, Centre of Biostructure, Medical University of Warsaw, Pawinskiego 5, 02-106 Warsaw, Poland.
  • Jordanova A; VIB Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium.
  • Bansagi B; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Zimon M; VIB Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium.
  • Horga A; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Jaunmuktane Z; Division of Neuropathology and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Saveri P; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy.
  • Rasic VM; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
  • Baets J; VIB Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium; Laboratory of Neurogenetics, University of Antwerp, Antwerpen 2610, Belgium; Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium.
  • Bartsakoulia M; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Ploski R; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Pawinskiego 5, 02-106 Warsaw, Poland.
  • Teterycz P; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Pawinskiego 5, 02-106 Warsaw, Poland.
  • Nikolic M; University of Belgrade, Faculty of Medicine, 11000 Belgrade, Serbia.
  • Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Laura M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Sweeney MG; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Disease IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy.
  • Lunn MP; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Moroni I; Child Neurology Unit, IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy.
  • Gonzalez M; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL 33136, USA.
  • Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Bettencourt C; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Chabrol E; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Franke A; Christian-Albrechts-University, 24118 Kiel, Germany.
  • von Au K; SPZ Pediatric Neurology, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Schilhabel M; Christian-Albrechts-University, 24118 Kiel, Germany.
  • Kabzinska D; Neuromuscular Unit, Mossakowski Medical Research Centre Polish Academy of Sciences, Centre of Biostructure, Medical University of Warsaw, Pawinskiego 5, 02-106 Warsaw, Poland.
  • Hausmanowa-Petrusewicz I; Neuromuscular Unit, Mossakowski Medical Research Centre Polish Academy of Sciences, Centre of Biostructure, Medical University of Warsaw, Pawinskiego 5, 02-106 Warsaw, Poland.
  • Brandner S; Division of Neuropathology and Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Lim SC; Institute of Molecular and Cell Biology, 61 Biopolis Drive, Proteos, Singapore 138673.
  • Song H; Institute of Molecular and Cell Biology, 61 Biopolis Drive, Proteos, Singapore 138673; Life Sciences Institute, Zhejiang University, Hangzhou 310058, People's Republic of China.
  • Choi BO; Department of Neurology, Sungkyunkwan University School of Medicine, Seoul 137-710, Korea.
  • Horvath R; Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Chung KW; Department of Biological Science, Kongju National University, Chungnam 134-701, Korea.
  • Zuchner S; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL 33136, USA.
  • Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy.
  • Harms M; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Houlden H; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute
Am J Hum Genet ; 95(5): 590-601, 2014 Nov 06.
Article em En | MEDLINE | ID: mdl-25439726
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Charcot-Marie-Tooth / Modelos Moleculares / Mutação de Sentido Incorreto / Exoma Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Reino Unido
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Charcot-Marie-Tooth / Modelos Moleculares / Mutação de Sentido Incorreto / Exoma Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Reino Unido