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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva, Velina; Müller, Juliane S; Dusl, Marina; Senderek, Jan; Oldfors, Anders; Lindbergh, Christopher; Maxwell, Susan; Colomer, Jaume; Mallebrera, Cecilia Jimenez; Nascimento, Andres; Vilchez, Juan J; Muelas, Nuria; Kirschner, Janbernd; Nafissi, Shahriar; Kariminejad, Ariana; Nilipour, Yalda; Bozorgmehr, Bita; Najmabadi, Hossein; Rodolico, Carmelo; Sieb, Jörn P; Schlotter, Beate; Schoser, Benedikt; Herrmann, Ralf; Voit, Thomas; Steinlein, Ortrud K; Najafi, Abdolhamid; Urtizberea, Andoni; Soler, Doriette M; Muntoni, Francesco; Hanna, Michael G; Chaouch, Amina; Straub, Volker; Bushby, Kate; Palace, Jacqueline; Beeson, David; Abicht, Angela; Lochmüller, Hanns.
Afiliación
  • Guergueltcheva V; Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Müller JS; Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.
  • Dusl M; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Senderek J; Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Oldfors A; Institute of Neuropathology, RWTH Aachen University, Aachen, Germany.
  • Lindbergh C; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
  • Maxwell S; Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Colomer J; Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Mallebrera CJ; Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Nascimento A; Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, Esplugues, Barcelona, Spain.
  • Vilchez JJ; Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, Esplugues, Barcelona, Spain.
  • Muelas N; Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, Esplugues, Barcelona, Spain.
  • Kirschner J; Servicio de Neurología, Hospital Universitario y Politécnico La Fe and CIBER de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain.
  • Nafissi S; Servicio de Neurología, Hospital Universitario y Politécnico La Fe and CIBER de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain.
  • Kariminejad A; Division of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany.
  • Nilipour Y; Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
  • Bozorgmehr B; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Najmabadi H; Neuropathology Lab, Toos Hospital, Tehran, Iran.
  • Rodolico C; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Sieb JP; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Schlotter B; Departments of Neurosciences, Psychiatry and Anaesthesiology, A.O.U. "G. Martino", Messina, Italy.
  • Schoser B; Department of Neurology, Geriatric Medicine and Palliative Care, Hanse-Klinikum, Stralsund, Germany.
  • Herrmann R; Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Voit T; Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Steinlein OK; Department of Paediatrics I, University Hospital Essen, Essen, Germany.
  • Najafi A; Institut de Myologie, Unité Mixte de Recherche UPMC-INSERM-CNRS-AIM UM 76, U974, UMR 7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Urtizberea A; Institute of Human Genetics, Ludwig Maximilians University, Munich, Germany.
  • Soler DM; Azad University Medical Branch, Tehran, Iran.
  • Muntoni F; Hôpital Marin, Hendaye, France.
  • Hanna MG; Department of Paediatrics, Mater Dei Hospital, Tal-Qroqq, Msida, Malta.
  • Chaouch A; The Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK.
  • Straub V; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
  • Bushby K; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Palace J; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Beeson D; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
  • Abicht A; CMS NCG Group, Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.
  • Lochmüller H; Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
J Neurol ; 259(5): 838-50, 2012 May.
Article en En | MEDLINE | ID: mdl-21975507
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Síndromes Miasténicos Congénitos / Glutamina-Fructosa-6-Fosfato Transaminasa (Isomerizadora) / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Humans / Middle aged Idioma: En Revista: J Neurol Año: 2012 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Síndromes Miasténicos Congénitos / Glutamina-Fructosa-6-Fosfato Transaminasa (Isomerizadora) / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Humans / Middle aged Idioma: En Revista: J Neurol Año: 2012 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania