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GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Chamova, Teodora; Guergueltcheva, Velina; Gospodinova, Mariana; Krause, Sabine; Cirak, Sebahattin; Kaprelyan, Ara; Angelova, Lyudmila; Mihaylova, Violeta; Bichev, Stoyan; Chandler, David; Naydenov, Emanuil; Grudkova, Margarita; Djukmedzhiev, Presian; Voit, Thomas; Pogoryelova, Oksana; Lochmüller, Hanns; Goebel, Hans H; Bahlo, Melanie; Kalaydjieva, Luba; Tournev, Ivailo.
Afiliación
  • Chamova T; Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria. Electronic address: teodoratch@abv.bg.
  • Guergueltcheva V; Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria.
  • Gospodinova M; Department of Cardiology, Medical Institute of Ministry of Interior Affairs, Sofia, Bulgaria.
  • Krause S; Laboratory of Molecular Myology, Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany.
  • Cirak S; Uniklinik Köln Institut für Humangenetik, Cologne, Germany.
  • Kaprelyan A; Department of Neurology, Medical University, Varna, Bulgaria.
  • Angelova L; Department of Pediatrics and Medical Genetics, Medical University, Varna, Bulgaria.
  • Mihaylova V; Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria.
  • Bichev S; National Genetics Laboratory, Molecular Medicine Center, Medical University, Sofia, Bulgaria.
  • Chandler D; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia; Australian Genome Research Facility, Perth, Australia.
  • Naydenov E; Department of Neurosurgery, Ivan Rilski Hospital, Sofia, Bulgaria.
  • Grudkova M; Department of Neurology, Medical University, Varna, Bulgaria.
  • Djukmedzhiev P; Medical Centre Plus, Varna, Bulgaria.
  • Voit T; Institute of Myology and Myology Research Centre, University Pierre et Marie Curie, UPMC-INSERM UMR 974, CNRS FRE 3617, GH Pitié-Salpêtrière, Paris, France.
  • Pogoryelova O; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Goebel HH; Department of Neuropathology, Charité - Universitätsmedizin Berlin, Germany.
  • Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute, Parkville, Victoria, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia; Department of Mathematics and Statistics, The University of Melbourne, Parkville, Victoria, Austra
  • Kalaydjieva L; Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Australia.
  • Tournev I; Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.
Neuromuscul Disord ; 25(9): 713-8, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26231298
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Distales / Complejos Multienzimáticos Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Distales / Complejos Multienzimáticos Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido