Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Johari, Mridul"'
Autor:
Zhong H; Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan University, Shanghai, China. huatwofold@outlook.com., Sian V; Department of Precision Medicine, 'Luigi Vanvitelli' University of Campania, Via L. De Crecchio 7, Naples, Italy., Johari M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Katayama S; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden., Oghabian A; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Jonson PH; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Hackman P; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Savarese M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Udd B; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, University Hospital, Tampere, Finland.
Publikováno v:
Communications biology [Commun Biol] 2024 Apr 10; Vol. 7 (1), pp. 438. Date of Electronic Publication: 2024 Apr 10.
Autor:
Lehtonen J; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Sulonen AM; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Almusa H; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Lehtokari VL; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Johari M; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Palva A; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Hakonen AH; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland., Wartiovaara K; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland., Lehesjoki AE; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Udd B; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Wallgren-Pettersson C; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Pelin K; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland., Savarese M; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Saarela J; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway. j.s.saarela@ncmm.uio.no.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland. j.s.saarela@ncmm.uio.no.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. j.s.saarela@ncmm.uio.no.
Publikováno v:
Scientific reports [Sci Rep] 2024 Feb 21; Vol. 14 (1), pp. 4306. Date of Electronic Publication: 2024 Feb 21.
Autor:
Johari M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Papadimas G; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Papadopoulos C; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Xirou S; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Kanavaki A; Department of Radiology, IASO Children's Hospital, Athens, Greece., Chrysanthou-Piterou M; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Rusanen S; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Hackman P; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Udd B; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, Tampere, Finland.; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Oct; Vol. 9 (10), pp. 1660-1667. Date of Electronic Publication: 2022 Sep 22.
Autor:
Bryen SJ; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Ewans LJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.; Central Clinical School, University of Sydney, Sydney, New South Wales, Australia., Pinner J; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, 2031, Australia., MacLennan SC; Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia., Donkervoort S; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Castro D; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas., Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., O'Grady G; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Cummings B; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Chao KR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Weisburd B; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Francioli L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA, Australia., Bournazos AM; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Hu Y; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, California., Malicki DM; Department of Pathology, Rady Children's Hospital University of California San Diego, San Diego, California., Doyle H; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Westmead, NSW, Australia., Witting N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven, Leuven, Belgium., Urankar K; Department of Neuropathology, Southmead Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Beleza-Meireles A; Clinical Genetics, Bristol Royal Hospital For Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Baptista J; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Institute of Biomedical and Clinical Science, University of Exeter Medical School University of Exeter, Exeter, United Kingdom., Ellard S; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Institute of Biomedical and Clinical Science, University of Exeter Medical School University of Exeter, Exeter, United Kingdom., Savarese M; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Johari M; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Vihola A; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Udd B; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.; Tampere Neuromuscular Center, Tampere University Hospital, Teiskontie 35, Tampere, 33520, Finland., Majumdar A; Paediatric Neurology, Bristol Royal Hospital For Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia.; Functional Neuromics, The Children's Medical Research Institute, Westmead, New South Wales, Australia.
Publikováno v:
Human mutation [Hum Mutat] 2020 Feb; Vol. 41 (2), pp. 403-411. Date of Electronic Publication: 2019 Dec 03.
Autor:
Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Johari M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Johnson K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Arumilli M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Torella A; Dipartimento di Medicina di Precisione, Universitá degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Rubegni A; IRCCS Fondazione Stella Maris, Pisa, Italy., Kuhn M; Genetikum, Neu-Ulm, Germany., Giugliano T; Dipartimento di Medicina di Precisione, Universitá degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Gläser D; Genetikum, Neu-Ulm, Germany., Fattori F; Unit for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy., Thompson R; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Penttilä S; Neuromuscular Research Center, Department of Genetics, Fimlab Laboratories, Tampere, Finland., Lehtinen S; Neuromuscular Research Center, Department of Genetics, Fimlab Laboratories, Tampere, Finland., Gibertini S; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Ruggieri A; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Department of Molecular and Translation Medicine, Unit of Biology and Genetics, University of Brescia, Brescia, Italy., Mora M; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Maver A; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia., Mankodi A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, Unites States., Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada., Santorelli FM; IRCCS Fondazione Stella Maris, Pisa, Italy., Schoser B; Friedrich-Baur-Institut, Neurologische Klinik Ludwig-Maximilians-Universität München, Munich, Germany., Fajkusová L; Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University Brno, Brno, Czech Republic., Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Nigro V; Dipartimento di Medicina di Precisione, Universitá degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Hackman P; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Udd B; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.
Publikováno v:
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (2), pp. 153-166.