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7
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. 미리보기

학술저널

issue
Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4200-4216.
Author
Roos A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
van der Ven PFM; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Alrohaif H; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Kuwait Medical Genetics Center, Sabah Hospital, Kuwait City, Kuwait.
Kölbel H; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Heil L; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Della Marina A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Aßent M; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Barresi R; San Camillo IRCCS, 30126 Venezia - Lido, Italy.
Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
O'Connor K; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.
Sickmann A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Kohlschmidt N; Institute of Clinical Genetics and Tumour Genetics, 53111 Bonn, Germany.
El Gizouli M; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Meyer N; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Daya N; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
Grande V; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Bois K; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Vorgerd M; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
Schröder C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Schara-Schmidt U; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Gangfuss A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Evangelista T; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, 75013 Paris, France.
Röbisch L; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Hentschel A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Grüneboom A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Fuerst DO; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Tzschach A; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany.
Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Lochmüller H; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, K1H 8L1, Canada.
DB Label
Database : MEDLINE
원문보기
Full Text (OUP)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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