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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson, Katherine; Bertoli, Marta; Phillips, Lauren; Töpf, Ana; Van den Bergh, Peter; Vissing, John; Witting, Nanna; Nafissi, Shahriar; Jamal-Omidi, Shirin; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Potulska-Chromik, Anna; Deconinck, Nicolas; Wallgren-Pettersson, Carina; Strang-Karlsson, Sonja; Colomer, Jaume; Claeys, Kristl G; De Ridder, Willem; Baets, Jonathan; von der Hagen, Maja; Fernández-Torrón, Roberto; Zulaica Ijurco, Miren; Espinal Valencia, Juan Bautista; Hahn, Andreas; Durmus, Hacer; Willis, Tracey; Xu, Liwen; Valkanas, Elise; Mullen, Thomas E; Lek, Monkol; MacArthur, Daniel G; Straub, Volker.
Affiliation
  • Johnson K; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Bertoli M; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Phillips L; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Van den Bergh P; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Vissing J; Neuromuscular Reference Centre, University Hospital St-Luc, University of Louvain, Brussels, Belgium.
  • Witting N; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Nafissi S; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Jamal-Omidi S; Iranian Center for Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Lusakowska A; Iranian Center for Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
  • Potulska-Chromik A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
  • Deconinck N; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
  • Wallgren-Pettersson C; Ghent University Hospital, De Pintelaan 185, Ghent, Belgium.
  • Strang-Karlsson S; Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, ULB, Brussels, Belgium.
  • Colomer J; The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics, and the Department of Medical and Clinical Genetics, University of Helsinki, Topeliuksenkatu 20, Helsinki, Finland.
  • Claeys KG; The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics, and the Department of Medical and Clinical Genetics, University of Helsinki, Topeliuksenkatu 20, Helsinki, Finland.
  • De Ridder W; Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  • Baets J; Unitat de Patología Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain.
  • von der Hagen M; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Fernández-Torrón R; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, University of Leuven (KU Leuven), Leuven, Belgium.
  • Zulaica Ijurco M; Department of Neurology and Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.
  • Espinal Valencia JB; Neurogenetics Group, VIB-UA, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
  • Hahn A; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Durmus H; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Willis T; Neurogenetics Group, VIB-UA, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.
  • Xu L; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Valkanas E; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Mullen TE; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Lek M; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • MacArthur DG; Neuroscience Area, Biodonostia Health Research Institute, San Sebastián, Spain.
  • Straub V; Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiveness, Madrid, Spain.
Skelet Muscle ; 8(1): 23, 2018 07 30.
Article in En | MEDLINE | ID: mdl-30060766
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Muscular Dystrophies, Limb-Girdle Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Skelet Muscle Year: 2018 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Muscular Dystrophies, Limb-Girdle Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Skelet Muscle Year: 2018 Document type: Article Affiliation country: