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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Alessandra; Ratti, Antonia; van der Zee, Julie; Alstermark, Helena; Birve, Anna; Calini, Daniela; Nordin, Angelica; Tradowsky, Daniela C; Just, Walter; Daoud, Hussein; Angerbauer, Sabrina; DeJesus-Hernandez, Mariely; Konno, Takuya; Lloyd-Jani, Anjali; de Carvalho, Mamede; Mouzat, Kevin; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Gitler, Aaron D; Shaw, Christopher E; Rouleau, Guy A; van den Berg, Leonard H; Van Broeckhoven, Christine; Rademakers, Rosa; Andersen, Peter M; Kubisch, Christian.
Afiliação
  • Akimoto C; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
  • Volk AE; Institute of Human Genetics, Ulm University, Ulm, Germany.
  • van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
  • Van den Broeck M; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Antwerp, Belgium Diagnostic Service Facility, Laboratory of neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Leblond CS; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • Lumbroso S; Department of Biochemistry, Nimes University Hospital, Nimes Cedex 9, France.
  • Camu W; Center SLA, Montpellier University Hospital, Hôpital Gui-de-Chauliac, Montpellier Cedex 5, France.
  • Neitzel B; Medizinisch Genetisches Zentrum, München, Germany.
  • Onodera O; Department of Neurology, Brain Research Institute, Niigata University,  Niigata, Japan.
  • van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Pinto S; Faculty of Medicine-University of Lisbon, Instituto de Medicina Molecular, Hospital de Santa Maria, University of Lisbon, Alameda Universidade, Lisbon, Portugal.
  • Weber M; Department of neurology, Kantonsspital St. Gallen and University Hospital, St. Gallen, Switzerland.
  • Smith B; Institute of Psychiatry, King's College London and King's Health Partners, London, UK.
  • Proven M; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, England.
  • Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe hospital, Oxford, UK.
  • Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
  • Chesi A; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
  • Ratti A; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Universtà degli Studi di Milano, Milan, Italy Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, , Milan, Italy.
  • van der Zee J; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Antwerp, Belgium Diagnostic Service Facility, Laboratory of neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Alstermark H; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
  • Birve A; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
  • Calini D; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Universtà degli Studi di Milano, Milan, Italy Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, , Milan, Italy.
  • Nordin A; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
  • Tradowsky DC; Institute of Human Genetics, Ulm University, Ulm, Germany.
  • Just W; Institute of Human Genetics, Ulm University, Ulm, Germany.
  • Daoud H; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • Angerbauer S; Medizinisch Genetisches Zentrum, München, Germany.
  • DeJesus-Hernandez M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
  • Konno T; Department of Neurology, Brain Research Institute, Niigata University,  Niigata, Japan.
  • Lloyd-Jani A; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, England.
  • de Carvalho M; Faculty of Medicine-University of Lisbon, Instituto de Medicina Molecular, Hospital de Santa Maria, University of Lisbon, Alameda Universidade, Lisbon, Portugal.
  • Mouzat K; Department of Biochemistry, Nimes University Hospital, Nimes Cedex 9, France.
  • Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
  • Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Silani V; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Universtà degli Studi di Milano, Milan, Italy Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, , Milan, Italy.
  • Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
  • Shaw CE; Institute of Psychiatry, King's College London and King's Health Partners, London, UK.
  • Rouleau GA; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp-CDE, Antwerp, Belgium Diagnostic Service Facility, Laboratory of neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Rademakers R; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden Institute of Human Genetics, Ulm University, Ulm, Germany Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University
  • Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden Department of Neurology, University of Ulm, Ulm, Germany.
  • Kubisch C; Institute of Human Genetics, Ulm University, Ulm, Germany.
J Med Genet ; 51(6): 419-24, 2014 Jun.
Article em En | MEDLINE | ID: mdl-24706941
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas / Testes Genéticos / Serviços de Laboratório Clínico Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Suécia
Texto completo
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas / Testes Genéticos / Serviços de Laboratório Clínico Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Suécia