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PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja, Manisha; Azmi, Abdelkrim; Baets, Jonathan; Roos, Andreas; Jennings, Matthew J; Saveri, Paola; Pisciotta, Chiara; Bernard-Marissal, Nathalie; Schneider, Bernard L; Verfaillie, Catherine; Chrast, Roman; Seeman, Pavel; Hahn, Angelika F; de Jonghe, Peter; Maudsley, Stuart; Horvath, Rita; Pareyson, Davide; Timmerman, Vincent.
Afiliação
  • Juneja M; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.
  • Azmi A; Institute Born Bunge, Antwerp, Belgium.
  • Baets J; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
  • Roos A; Institute Born Bunge, Antwerp, Belgium.
  • Jennings MJ; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
  • Saveri P; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium.
  • Pisciotta C; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Bernard-Marissal N; Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund, Germany.
  • Schneider BL; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Verfaillie C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.
  • Chrast R; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.
  • Seeman P; Aix Marseille University, INSERM, MMG, U1251, Marseille, France.
  • Hahn AF; Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
  • de Jonghe P; Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
  • Maudsley S; Stem Cell Institute, KU Leuven, Leuven, Belgium.
  • Horvath R; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Pareyson D; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Timmerman V; DNA Laboratory, Department of Child Neurology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic.
J Neurol Neurosurg Psychiatry ; 89(8): 870-878, 2018 08.
Article em En | MEDLINE | ID: mdl-29449460
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Profilinas / Guanidinoacetato N-Metiltransferase / Genótipo / Mutação Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Profilinas / Guanidinoacetato N-Metiltransferase / Genótipo / Mutação Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Bélgica País de publicação: Reino Unido