학술논문


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'학술논문' 에서 검색결과 2,837건 | 목록 1~20
Academic Journal
Laurie, S.Steyaert, W.A.R.de Boer, E.Polavarapu, K.Schuermans, N.Sommer, A.K.Demidov, G.Ellwanger, K.Paramonov, I.Thomas, C.Aretz, S.Baets, J.Benetti, E.Bullich, G.Chinnery, P.F.Clayton-Smith, J.Cohen, E.Danis, D.de Sainte Agathe, J.M.Denommé-Pichon, A.S.Diaz-Manera, J.Efthymiou, S.Faivre, L.Fernandez-Callejo, M.Freeberg, M.Garcia-Pelaez, J.Guillot-Noel, L.Haack, T.B.Hanna, M.Hengel, H.Horvath, R.Houlden, H.Jackson, A.Johansson, L.Johari, M.Kamsteeg, E.J.Kellner, M.Kleefstra, T.Lacombe, D.Lochmüller, H.López-Martín, E.Macaya, A.Marcé-Grau, A.Maver, A.Morsy, H.Muntoni, F.Musacchia, F.Nelson, I.Nigro, V.Olimpio, C.Oliveira, C.Paulasová Schwabová, J.Pauly, M.G.Peterlin, B.Peters, SophiaPfundt, R.P.Piluso, G.Piscia, D.Posada, M.Reich, S.Renieri, A.Ryba, L.Sablauskas, K.Savarese, M.Schöls, L.Schütz, L.Steinke-Lange, V.Stevanin, G.Straub, V.Sturm, M.Swertz, M.A.Tartaglia, M.te Paske, I.B.A.W.Thompson, R.Torella, A.Trainor, C.Udd, B.Van de Vondel, L.van de Warrenburg, B.P.C.van Reeuwijk, J.Vandrovcova, J.Vitobello, A.Vos, J.R.Vyhnálková, E.Wijngaard, R.Wilke, C.William, D.Xu, JishuYaldiz, B.Zalatnai, L.Zurek, B.Brookes, A.J.Evangelista, T.Gilissen, C.F.H.A.Graessner, H.Hoogerbrugge, N.Ossowski, S.Riess, O.Schüle, R.Synofzik, M.Verloes, A.Matalonga, L.Brunner, H.G.Lohmann, K.de Voer, R.M.Töpf, A.Vissers, L.E.L.M.Beltran, S.Hoischen, A.
Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Schuermans N; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Thomas C; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Bullich G; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Cohen E; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Danis D; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; de Sainte Agathe JM; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Denommé-Pichon AS; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Faivre L; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France.; Fernandez-Callejo M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Freeberg M; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Garcia-Pelaez J; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Guillot-Noel L; Institut du Cerveau, Sorbonne University, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hanna M; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.; Hengel H; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Johansson L; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Johari M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kellner M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.; Lacombe D; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Macaya A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Marcé-Grau A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Musacchia F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Nelson I; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Olimpio C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Oliveira C; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France.; Paulasová Schwabová J; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Posada M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Reich S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Šablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Schöls L; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Steinke-Lange V; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany.; Stevanin G; Institut du Cerveau, Sorbonne University, Paris, France.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Thompson R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Trainor C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Udd B; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; van de Warrenburg B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vitobello A; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Vos J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Vyhnálková E; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; William D; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany.; Xu J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Zalatnai L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brookes AJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Evangelista T; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Verloes A; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain. sergi.beltran@cnag.eu.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.eu.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: In Process; MEDLINE
Academic Journal
Silva P; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), University of Coimbra, Coimbra, Portugal.; Costa MA; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), University of Coimbra, Coimbra, Portugal.; Gaspar L; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Institute of Interdisciplinary Research, University of Coimbra (IIIUC), Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal.; Durães J; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Cunha I; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Ribeiro JA; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Januário C; Coimbra Hospital and University Center (CHUC), Coimbra, Portugal.; Oliveiros B; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Laboratory of Biostatistics and Medical Informatics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Center for Research in Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Faculty of Medicine, Coimbra Institute for Clinical and Biomedical Research, University of Coimbra, Coimbra, Portugal.; Hübener-Schmid J; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Faber J; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany.; Raposo M; Institute for Research and Innovation in Health (I3S), University of Porto, Porto, Portugal.; School of Sciences & Technology, University of Azores, Ponta Delgada, Portugal.; Lima M; School of Sciences & Technology, University of Azores, Ponta Delgada, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.; Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Beichert L; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; van de Warrenburg BP; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries J; Department of Neurology, University Medical Center Groningen, Groningen, the Netherlands.; Thieme A; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.; Reetz K; Department of Neurology, RWTH Aachen University Hospital, Aachen, Germany.; Jacobi H; Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.; Infante J; Neurology Service, Centro de investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), University Hospital Marqués de Valdecilla - IDIVAL, University of Cantabria, Santander, Spain.; Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany.; de Almeida LP; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra (FFUC), University of Coimbra, Coimbra, Portugal.; Santana MM; Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal. mmsantana@uc.pt.; Institute of Interdisciplinary Research, University of Coimbra (IIIUC), Coimbra, Portugal. mmsantana@uc.pt.; Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal. mmsantana@uc.pt.; Gene Therapy Center of Excellence (GeneT), Coimbra, Portugal. mmsantana@uc.pt.; Centro de Neurociências e Biologia Celular, Faculdade de Medicina da Universidade de Coimbra, Polo 1, 1º Piso, Rua Larga, 3000-041, Coimbra, Portugal. mmsantana@uc.pt.
Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9431220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1934 (Electronic) Linking ISSN: 11727047 NLM ISO Abbreviation: CNS Drugs Subsets: MEDLINE
Editorial & Opinion
Zimmermann M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, Tuebingen University Hospital, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany. milan.zimmermann@uni-tuebingen.de.; Center for Psychiatry Winnenden, Schloßstr. 50, 71364, Winnenden, Germany. milan.zimmermann@uni-tuebingen.de.; German Center for Neurodegenerative Diseases (DZNE), Otfried-Müller- Str. 23, 72076, Tübingen, Germany. milan.zimmermann@uni-tuebingen.de.; Schöls L; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, Tuebingen University Hospital, Hoppe-Seyler-Str. 3, 72076, Tuebingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Otfried-Müller- Str. 23, 72076, Tübingen, Germany.
Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: In Process; MEDLINE
Academic Journal
Baumeister H; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany. Electronic address: hannah.baumeister@dzne.de.; Wegner P; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; University of Bonn, Bonn, Germany.; Ferreira M; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; University of Bonn, Bonn, Germany.; Schaprian T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; França MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.; Rezende TJR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.; Muro Martinez AR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.; Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Chen Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Weihua L; Radiological Intervention Center, Department of Radiology, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Grobe-Einsler M; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Koyak B; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Neurology, Department of Parkinson, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; Önder D; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Neurology, Department of Parkinson, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology, Rijnstate Hospital, Arnhem, Nijmegen, the Netherlands.; Durr A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France.; Coarelli G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Pitié-Salpêtrière University Hospital, Paris, France.; Synofzik M; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schöls L; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Öz G; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.; Joers J; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.; Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Thieme AG; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Jacobi H; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.; de Vries J; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Barker P; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Onyike C; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Ratai EM; Department of Radiology, Massachusetts General Hospital, Boston, MA, USA; A. A. Martinos Center for Biomedical Imaging and Harvard Medical School Charlestown, Charlestown, MA, USA.; Schmahmann JD; Ataxia Center, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany; JARA-Brain Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich, Jülich, Germany.; Infante J; Neurology Service, University Hospital Marqués de Valdecilla-IDIVAL, Universidad de Cantabria, Centro de Investigación en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.; Huebener-Schmid J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Kuegler D; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Berron D; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany; Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Lund, Sweden; Center for Behavioral Brain Sciences (CBBS), Otto-von-Guericke University, Magdeburg, Germany.; Faber J; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Center for Neurology, Department of Parkinson, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany; Department of Neuroradiology, University Hospital Bonn, Bonn, Germany.
Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
Academic Journal
DGNeurologie: Zeitschrift der Deutschen Gesellschaft für Neurologie. 6(6):493-503
Academic Journal
Grobe-Einsler M; German Center for Neurodegenerative Diseases, Bonn, Germany.; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany.; Borel S; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Buchholz M; German Center for Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany.; Sayah S; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Hilab R; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Pierron L; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Iskandar A; German Center for Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany.; Humphries B; Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada.; Ewenczyk C; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Heinzmann A; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Atencio M; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Feldmann K; German Center for Neurodegenerative Diseases, Bonn, Germany.; Maas V; German Center for Neurodegenerative Diseases, Bonn, Germany.; Faber J; German Center for Neurodegenerative Diseases, Bonn, Germany.; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; Department of Neuroradiology, University Hospital Bonn, Germany.; Boesch S; Centre for Rare Movement disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Indelicato E; Centre for Rare Movement disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; Schulz JB; Department of Neurology, RWTH Aachen University, Aachen, Germany.; Bischoff AT; Friedrich-baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian-Universität (LMU) Munich, Germany.; German Center for Neurodegenerative Diseases, Munich, Germany.; Klopstock T; Friedrich-baur-Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilian-Universität (LMU) Munich, Germany.; German Center for Neurodegenerative Diseases, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Schöls L; German Center for Neurodegenerative Diseases (DZNE), Site Tübingen, Germany.; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.; Minnerop M; Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany.; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany.; Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty & University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Timmann D; Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty & University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.; Davies EH; Aparito Ltd a Wholly Owned Subsidiary of Eli Lilly and Company, 11-12 Gwenfro, Wrexham Technology Park, Wrexham, Wales, United Kingdom.; Klockgether T; German Center for Neurodegenerative Diseases, Bonn, Germany.; Center for Neurology, Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; Durr A; Sorbonne Université, Paris Brain Institute (ICM - Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Xie F; Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada.; Michalowsky B; German Center for Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Patient-reported Outcomes & Health Economics Research, Greifswald, Germany.; Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada.
Publisher: [Oxford] Country of Publication: England NLM ID: 101777707 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-7762 (Electronic) Linking ISSN: 26667762 NLM ISO Abbreviation: Lancet Reg Health Eur Subsets: PubMed not MEDLINE
Academic Journal
Yska HAF; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau, ICM, Paris, France.; Amsterdam UMC, Location AMC, Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam, The Netherlands.; Golse M; Laboratoire d'Imagerie BiomédicaleSorbonne Université, INSERM, CNRS, Paris, France.; Department of Neuroradiology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.; Beerepoot S; Amsterdam UMC, Location AMC, Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam, The Netherlands.; Cellular & Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Hayer S; Department of Neurology and Hertie-Institute for Clinical Brain Research, German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bergner C; Clinic of Neurology, University Hospital Leipzig, Leipzig, Germany.; de Paiva ARB; Hospital das Clínicas da Universidade de São Paulo, Neurogenetics Unit, São Paulo, Brazil.; Mendelics Análise Genômica, São Paulo, Brazil.; Marelli C; Reference Center for Neurogenetic DiseasesMontpellier University, EPHE, INSERM, CHU Montpellier, Montpellier, France.; Palacios NJ; Unidad de Enfermedades Metabólicas, Servicio de Neurología, Hospital Sant Joan de Déu, Esplugues, Spain.; Osorio YL; Neurology Department, Dublin Neurological Institute, Mater University Hospital, Dublin, Ireland.; Huiban C; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau, ICM, Paris, France.; Franke G; Medical Department, Hematology, University of Leipzig Faculty of Medicine, Leipzig, Germany.; Wortmann F; Klinik für Hämatologie und Onkologie, Universitätsklinik Schleswig-Holstein, Lübeck, Germany.; Holtick U; Department I of Internal Medicine, Medical Faculty and University Hospital of Cologne, University of Cologne, Cologne, Germany.; Ayrignac X; Montpellier University, INM, INSERM, Reference Center for Adult Leukodystrophies, CHU Montpellier, Montpellier, France.; van der Knaap MS; Amsterdam UMC, Location AMC, Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam, The Netherlands.; Cellular & Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Perlbarg V; BrainTale SAS, Strasbourg, France.; Galanaud D; Laboratoire d'Imagerie BiomédicaleSorbonne Université, INSERM, CNRS, Paris, France.; Department of Neuroradiology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.; de Witte MA; Department of Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.; Wolf NI; Amsterdam UMC, Location AMC, Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam, The Netherlands.; Cellular & Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Nguyen S; Department of Hematology, AP-HP, Pitié-Salpêtrière University Hospital, 75013 Paris, France.; Mochel F; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau, ICM, Paris, France.; Department of Medical Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Academic Journal
Weber JJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany.; Czisch L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Pereira Sena P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Fath F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany.; Huridou C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany.; Schwarz N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Incebacak Eltemur RD; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany.; Würth A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Weishäupl D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Döcker M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Blumenstock G; Department of Clinical Epidemiology and Applied Biometry, University of Tübingen, 72076, Tübingen, Germany.; Martins S; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, 4200-135, Porto, Portugal.; Sequeiros J; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.; ICBAS School of Medicine and Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal.; Rouleau GA; Department of Neurology and Neurosurgery and The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, H3A 1A1, Canada.; Jardim LB; Departamento de Medicina Interna, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, 90035-903, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, 90035-903, Brazil.; Saraiva-Pereira ML; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, 90035-903, Brazil.; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, 90035-003, Brazil.; França MC Jr; Universidade Estadual de Campinas (UNICAMP), Campinas, 13083-970, Brazil.; Gordon CR; Department of Neurology, Tel Aviv University, 69978, Tel Aviv, Israel.; Zaltzman R; Department of Neurology, Tel Aviv University, 69978, Tel Aviv, Israel.; Cornejo-Olivas MR; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, 15003, Lima, Peru.; Neurogenetics Working Group, Universidad Científica del Sur, 15067, Lima, Peru.; van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525, Nijmegen, The Netherlands.; Durr A; Department of Genetics and Cytogenetics, 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, 75013, Paris, France.; Brice A; Department of Genetics and Cytogenetics, 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, 75013, Paris, France.; Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Centogene GmbH, 18055, Rostock, Germany.; Clinic for Internal Medicine, Department of Hematology, Oncology, Palliative Medicine, University Medicine Rostock, 18057, Rostock, Germany.; Klockgether T; German Center for Neurodegenerative Diseases (DZNE), 53127, Bonn, Germany.; Department of Neurology, University Hospital Bonn, 53127, Bonn, Germany.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Schmidt T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany. thorsten.schmidt@med.uni-tuebingen.de.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
Academic Journal
Lischewski SA; Department of Neurology, RWTH Aachen University, Aachen, Germany.; Konrad K; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH, Jülich, Germany.; Child Neuropsychology Section, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital, RWTH, Aachen, Germany.; Dogan I; Department of Neurology, RWTH Aachen University, Aachen, Germany.; Didszun C; Department of Neurology, RWTH Aachen University, Aachen, Germany.; Costa AS; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH, Jülich, Germany.; Schawohl SA; Department of Neurology, RWTH Aachen University, Aachen, Germany.; Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL-Queen Square Institute of Neurology, London, UK.; Parkinson MH; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL-Queen Square Institute of Neurology, London, UK.; Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Durr A; Paris Brain Institute, ICM Institut du Cerveau, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Sorbonne Universite, Paris, France.; Ewenczyk C; Paris Brain Institute, ICM Institut du Cerveau, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Sorbonne Universite, Paris, France.; Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Nachbauer W; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Klopstock T; Department of Neurology, Friedrich Baur Institute, University Hospital, LMU, Munich, Germany.; German Center for Neurodegenerative Diseases, Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany.; Stendel C; Department of Neurology, Friedrich Baur Institute, University Hospital, LMU, Munich, Germany.; German Center for Neurodegenerative Diseases, Munich, Germany.; de Rivera Garrido FJR; Reference Unit of Hereditary Ataxias and Paraplegias, Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Fleszar Z; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Klockgether T; Department of Neurology, University Hospital of Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases, Bonn, Germany.; Grobe-Einsler M; Department of Neurology, University Hospital of Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases, Bonn, Germany.; Giordano I; Department of Neurology, University Hospital of Bonn, Bonn, Germany.; Rai M; Friedreich Ataxia Research Alliance, Downingtown, Pennsylvania, USA.; Pandolfo M; Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.; Schulz JB; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH, Jülich, Germany.; Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH, Jülich, Germany.
Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Academic Journal
Wiessner, M.Maroofian, R.Ni, M. Y.Pedroni, A.Müller, J. S.Stucka, R.Beetz, C.Efthymiou, S.Santorelli, F. M.Alfares, A. A.Zhu, Changlian, 1964; Uhrova Meszarosova, A.Alehabib, E.Bakhtiari, S.Janecke, A. R.Otero, M. G.Chen, J. Y. H.Peterson, J. T.Strom, T. M.De Jonghe, P.Deconinck, T.De Ridder, W.De Winter, J.Pasquariello, R.Ricca, I.Alfadhel, M.Van De Warrenburg, B. P.Portier, R.Bergmann, C.Ghasemi Firouzabadi, S.Jin, S. C.Bilguvar, K.Hamed, S.Abdelhameed, M.Haridy, N. A.Maqbool, S.Rahman, F.Anwar, N.Carmichael, J.Pagnamenta, A.Wood, N. W.Tran Mau-Them, F.Haack, T.Di Rocco, M.Ceccherini, I.Iacomino, M.Zara, F.Salpietro, V.Scala, M.Rusmini, M.Xu, Y.Wang, Y.Suzuki, Y.Koh, K.Nan, H.Ishiura, H.Tsuji, S.Lambert, L.Schmitt, E.Lacaze, E.Küpper, H.Dredge, D.Skraban, C.Goldstein, A.Willis, M. J. H.Grand, K.Graham, J. M.Lewis, R. A.Millan, F.Duman, ÖDündar, N.Uyanik, G.Schöls, L.Nürnberg, P.Nürnberg, G.Catala Bordes, A.Seeman, P.Kuchar, M.Darvish, H.Rebelo, A.Bouçanova, F.Medard, J. J.Chrast, R.Auer-Grumbach, M.Alkuraya, F. S.Shamseldin, H.Al Tala, S.Rezazadeh Varaghchi, J.Najafi, M.Deschner, S.Gläser, D.Hüttel, W.Kruer, M. C.Kamsteeg, E. J.Takiyama, Y.Züchner, S.Baets, J.Synofzik, M.Schüle, R.Horvath, R.Houlden, H.Bartesaghi, L.Lee, H. J.Ampatzis, K.Pierson, T. M.Senderek, J.
Brain : a journal of neurology. 144(5):1422-1434
Academic Journal
Roller JR; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.; Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, 11115 Khartoum, Sudan.; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.; Stevanin G; Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetics, Bordeaux University Hospital, and Univ. Bordeaux, CNRS, INCIA, UMR 5287, EPHE, NRGenTeam, 33076 Bordeaux, France.; Ahmed AE; Department of Physiology, Faculty of Medicine, University of Khartoum, 11115 Khartoum, Sudan.; Alawadhi AMT; Department of Genetics, Salmaniya Medical Complex, P.O. Box 12, Manama, Kingdom of Bahrain.; Almannai M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), 14611 Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA), 11426 Riyadh, Saudi Arabia.; Busehail MY; Department of Medical Genetics, Governmental Hospitals, P.O. Box 12, Kingdom of Bahrain.; Choi AH; Department of Neurology, Mid-Atlantic Permanente Medical Group, 20002 Washington D.C., USA.; Elhassan AA; Sudan Neuroscience Projects, University of Khartoum, 11115 Khartoum, Sudan.; Elsayed LEO; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, 11564 Riyadh, Saudi Arabia.; Goode C; Carle Health, Urbana, IL 61801, USA.; Hammer LH; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Laukaitis C; Carle Health, Urbana, IL 61801, USA.; Institute for Genomic Biology & Carle Illinois College of Medicine, University of Illinois, Urbana, IL 61801, USA.; Begtrup A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Paul RA; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Roohi J; Department of Genetics, Mid-Atlantic Permanente Medical Group, Washington D.C. 20002, USA.; Tomoum HY; Department of Pediatrics, Ain Shams University, 11566 Cairo, Egypt.; Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Centogene GmbH, 18055 Rostock, Germany.; Pomeranian Medical University, 70-204 Szczecin, Poland.; Schöls L; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.; Basto JP; Centogene GmbH, 18055 Rostock, Germany.; Synofzik M; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.; Hengel H; Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Schuermans N; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Thomas C; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Bullich G; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Cohen E; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Danis D; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; de Sainte Agathe JM; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; Denommé-Pichon AS; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Faivre L; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France.; Fernandez-Callejo M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Freeberg M; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK.; Garcia-Pelaez J; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Guillot-Noel L; Institut du Cerveau, Sorbonne University, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hanna M; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.; Hengel H; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Johansson L; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Johari M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kellner M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.; Lacombe D; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Macaya A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Marcé-Grau A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Musacchia F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Nelson I; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Olimpio C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Oliveira C; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France.; Paulasová Schwabová J; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Posada M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Reich S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Šablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Schöls L; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Steinke-Lange V; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany.; Stevanin G; Institut du Cerveau, Sorbonne University, Paris, France.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Thompson R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Trainor C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Udd B; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; van de Warrenburg B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vitobello A; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France.; Vos J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Vyhnálková E; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; William D; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany.; Xu J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Zalatnai L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brookes AJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Evangelista T; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Verloes A; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
Academic Journal
van Voorst RJ; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Schoenmakers DH; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Department of Endocrinology and Metabolism, Platform 'Medicine for Society', Amsterdam University Medical Center, University of Amsterdam, The Netherlands.; Bonkowsky JL; Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, PA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Krägeloh-Mann I; Department of Developmental and Child Neurology, Social Pediatrics, University Children's Hospital Tübingen, Germany.; Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Bertini E; Research Unit of Neuromuscular and Neurodegenerative Diseases, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.; Fatemi A; Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.; Sgobbi PV; PSEG Centro de Pesquisa Clínica, São Paulo, Brazil.; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, Brazil.; Wolf NI; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Groeschel S; Department of Developmental and Child Neurology, Social Pediatrics, University Children's Hospital Tübingen, Germany.; Tonduti D; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Sevin C; Reference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Orthmann-Murphy JL; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Schöls L; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Salsano E; Unit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Jaffe N; Division of General Pediatrics, Children's Hospital of Philadelphia, PA.; Department of General Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Ter Horst KW; Department of Endocrinology and Metabolism, Amsterdam University Medical Center, The Netherlands.; Hannema SE; Department of Pediatric Endocrinology, Amsterdam UMC location Vrije Universiteit, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, The Netherlands.; Amsterdam Reproduction and Development, The Netherlands.; Hayes KG; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT.; Department of Obstetrics & Gynecology, Division of Pediatric Gynecology, University of Utah, Salt Lake City.; Meyburg J; Department of Pediatrics and Adolescent Medicine, RKH Klinikum Ludwigsburg, Germany.; van Heerde M; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Department of Pediatric Intensive Care, Amsterdam University Medical Center, The Netherlands.; Sbrocchi AM; Division of Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.; van Spaendonk R; Department of Human Genetics, Amsterdam University Medical Center, The Netherlands.; Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City.; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Hofsteenge GH; Department of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.; Sudmeier-Broek C; Department of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.; Timmer C; Department of Endocrinology and Metabolism, Amsterdam University Medical Center, The Netherlands.; Department of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.; Skwirut D; United Leukodystrophy Foundation, DeKalb, IL.; VWM Families Foundation, Greenwhich, CT.; Buck A; VWM Families Foundation, Greenwhich, CT.; Hollberg B; VWM Families Foundation, Greenwhich, CT.; Chapleau R; United Leukodystrophy Foundation, DeKalb, IL.; Dekker H; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten, Zwolle, The Netherlands.; Campbell SG; Biomolecular Sciences Research Centre, School of Biosciences and Chemistry, Faculty of Health, Wellbeing and Life Sciences, Sheffield Hallam University, Sheffield, United Kingdom.; Abbink TEM; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Leferink PS; IXA Neuroscience, Amsterdam Neuroscience, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; van der Knaap MS; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, The Netherlands.
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
Academic Journal
Adam JacksonSheng-Jia LinElizabeth A. JonesKate E. ChandlerDavid OrrCelia MossZahra HaiderGavin RyanSimon HoldenMike HarrisonNigel BurrowsWendy D. JonesMary LovelessCassidy PetreeHelen StewartKaren LowDeirdre DonnellySimon LovellKonstantina DrosouGaurav K. VarshneySiddharth BankaJ.C. AmbroseP. ArumugamR. BeversM. BledaF. Boardman-PrettyC.R. BoustredH. BrittainM.A. BrownM.J. CaulfieldG.C. ChanA. GiessJ.N. GriffinA. HamblinS. HendersonT.J.P. HubbardR. JacksonL.J. JonesD. KasperaviciuteM. KayikciA. KousathanasL. LahnsteinA. LakeyS.E.A. LeighI.U.S. LeongF.J. LopezF. Maleady-CroweM. McEntagartF. MinneciJ. MitchellL. MoutsianasM. MuellerN. MurugaesuA.C. NeedP. O‘DonovanC.A. OdhamsC. PatchD. Perez-GilM.B. PereiraJ. PullingerT. RahimA. RendonT. RogersK. SavageK. SawantR.H. ScottA. SiddiqA. SieghartS.C. SmithA. SosinskyA. StuckeyM. TanguyA.L. Taylor TavaresE.R.A. ThomasS.R. ThompsonA. TucciM.J. WellandE. WilliamsK. WitkowskaS.M. WoodM. ZarowieckiOlaf RiessTobias B. HaackHolm GraessnerBirte ZurekKornelia EllwangerStephan OssowskiGerman DemidovMarc SturmJulia M. Schulze-HentrichRebecca SchüleChristoph KesslerMelanie WayandMatthis SynofzikCarlo WilkeAndreas TraschützLudger SchölsHolger HengelPeter HeutinkHan BrunnerHans SchefferNicoline HoogerbruggeAlexander HoischenPeter A.C. ’t HoenLisenka E.L.M. VissersChristian GilissenWouter SteyaertKarolis SablauskasRicharda M. de VoerErik-Jan KamsteegBart van de WarrenburgNienke van OsIris te PaskeErik JanssenElke de BoerMarloes SteehouwerBurcu YaldizTjitske KleefstraAnthony J. BrookesColin VealSpencer GibsonMarc WadsleyMehdi MehtarizadehUmar RiazGreg WarrenFarid Yavari DizjikanThomas ShorterAna TöpfVolker StraubChiara Marini BettoloSabine SpechtJill Clayton-SmithElizabeth AlexanderLaurence FaivreChristel ThauvinAntonio VitobelloAnne-Sophie Denommé-PichonYannis DuffourdEmilie TisserantAnge-Line BruelChristine PeyronAurore PélissierSergi BeltranIvo Glynne GutSteven LaurieDavide PisciaLeslie MatalongaAnastasios PapakonstantinouGemma BullichAlberto CorvoCarles GarciaMarcos Fernandez-CallejoCarles HernándezDaniel PicóIda ParamonovHanns LochmüllerGulcin GumusVirginie Bros-FacerAna RathMarc HanauerAnnie OlryDavid LagorceSvitlana HavrylenkoKatia IzemFanny RigourGiovanni StevaninAlexandra DurrClaire-Sophie DavoineLéna Guillot-NoelAnna HeinzmannGiulia CoarelliGisèle BonneTeresinha EvangelistaValérie AllamandIsabelle NelsonRabah Ben YaouCorinne MetayBruno EymardEnzo CohenAntonio AtalaiaTanya StojkovicMilan Macek, Jr.Marek TurnovecDana ThomasováRadka Pourová KremlikováVera FrankováMarkéta HavlovicováVlastimil KremlikHelen ParkinsonThomas KeaneDylan SpaldingAlexander SenfPeter RobinsonDaniel DanisGlenn RobertAlessia CostaChristine PatchMike HannaHenry HouldenMary ReillyJana VandrovcovaFrancesco MuntoniIrina ZaharievaAnna SarkozyVincent TimmermanJonathan BaetsLiedewei Van de VondelDanique BeijerPeter de JongheVincenzo NigroSandro BanfiAnnalaura TorellaFrancesco MusacchiaGiulio PilusoAlessandra FerliniRita SelvaticiRachele RossiMarcella NeriStefan AretzIsabel SpierAnna Katharina SommerSophia PetersCarla OliveiraJose Garcia PelaezAna Rita MatosCelina São JoséMarta FerreiraIrene GulloSusana FernandesLuzia GarridoPedro FerreiraFátima CarneiroMorris A. SwertzLennart JohanssonJoeri K. van der VeldeGerben van der VriesPieter B. NeerincxDieuwke Roelofs-PrinsSebastian KöhlerAlison MetcalfeAlain VerloesSéverine DrunatCaroline RooryckAurelien TrimouilleRaffaele CastelloManuela MorleoMichele PinelliAlessandra VaravalloManuel Posada De la PazEva Bermejo SánchezEstrella López MartínBeatriz Martínez DelgadoF. Javier Alonso García de la RosaAndrea CiolfiBruno DallapiccolaSimone PizziFrancesca Clementina RadioMarco TartagliaAlessandra RenieriElisa BenettiPeter BaliczaMaria Judit MolnarAles MaverBorut PeterlinAlexander MünchauKatja LohmannRebecca HerzogMartje PaulyAlfons MacayaAnna Marcé-GrauAndres Nascimiento OsorioDaniel Natera de BenitoRachel ThompsonKiran PolavarapuDavid BeesonJudith CossinsPedro M. Rodriguez CruzPeter HackmanMridul JohariMarco SavareseBjarne UddRita HorvathGabriel CapellaLaura ValleElke Holinski-FederAndreas LanerVerena Steinke-LangeEvelin SchröckAndreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
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