S69 Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia

Autor: Daudvohra, F, Fassad, MR, Dixon, M, Burgoyne, T, Rogers, AV, Loebinger, MR, Hogg, C, Mitchison, HM, Shoemark, A

Publikováno v: Thorax; 2017, Vol. 72 Issue: Supplement 3 pA44-A44, 1p

HYDIN variants cause primary ciliary dyskinesia in the Finnish population.

Autor: Burgoyne T; Institute of Ophthalmology, University College London, London, UK.; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK., Fassad MR; Great Ormond Street Institute of Child Health, University College London, London, UK.; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Schultz R; Allergy Centre, Tampere University Hospital, Tampere, Finland., Elenius V; Department of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland., Lim JSY; Great Ormond Street Institute of Child Health, University College London, London, UK., Freke G; Great Ormond Street Institute of Child Health, University College London, London, UK., Rai R; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK., Mohammed MA; Great Ormond Street Institute of Child Health, University College London, London, UK.; Biochemistry Department, Faculty of Science, Zagazig University, Zagazig, Egypt., Mitchison HM; Great Ormond Street Institute of Child Health, University College London, London, UK., Sironen AI; Great Ormond Street Institute of Child Health, University College London, London, UK.; Natural Resources Institute Finland (Luke), Jokioinen, Finland.

Publikováno v: Pediatric pulmonology [Pediatr Pulmonol] 2024 Sep 18. Date of Electronic Publication: 2024 Sep 18.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Autor: 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. ana.topf@ncl.ac.uk., Cox D; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Di Leo V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Department of Life Sciences, University of Trieste, Trieste, Italy., Sarparanta J; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Jonson PH; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Sealy IM; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK., Smolnikov A; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia., White RJ; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK., Vihola A; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland., Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Merteroglu M; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy., Wali N; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Venturini C; Division of Infection and Immunity, University College London, London, UK., Vroling B; Bio-Prodict, Nijmegen, The Netherlands., Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Cummings BB; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy., Harris E; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, UK., Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., 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., Henderson M; Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Barresi R; IRCCS San Camillo Hospital, Venice, Italy., Duff J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Patrick J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Al-Husayni S; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Biancalana V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Bodi I; Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK., Bommireddipalli S; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia., Chiew MT; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium., Cooper ST; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Erasmus CE; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, The Netherlands., Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA, USA., Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France., Löscher WN; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Malfatti E; APHP, Neuromuscular Reference Center Nord-Est-Ile-de-France, Henri Mondor Hospital, Université Paris Est, U955, INSERM, Creteil, France., Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Martí P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain., Mongini TE; Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino, Torino, Italy., Muelas N; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; Department of Medicine, Universitat de Valencia, Valencia, Spain.; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain., Nishikawa A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Ogonuki N; RIKEN BioResource Research Center, Tsukuba, Japan., O'Grady GL; Starship Children's Health, Auckland District Health Board, Auckland, New Zealand., O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Paquay S; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium., Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Pletcher BA; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA., Romero NB; Neuromuscular Morphology Unit, Myology Institute, Sorbonne Université, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), GH Pitié-Salpêtrière, Paris, France., Schouten M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Shah S; Department of Neurology, Perth Children's Hospital, Nedlands, Western Australia, Australia., Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Sznajer Y; Center for Human Genetic, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium., Tasca G; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Tuite A; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA., Van den Bergh P; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium., VanNoy G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands., Wanschitz JV; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Wraige E; Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK., Yoshimura K; Department Neurology, Nankoku Hospital, Kochi, Japan., Oates EC; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia., Nakagawa O; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France., Vilchez JJ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Udd B; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland., Busch-Nentwich EM; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, UCL & Great Ormond Street Hospital Trust, London, UK., 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. volker.straub@ncl.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2024 Mar; Vol. 56 (3), pp. 395-407. Date of Electronic Publication: 2024 Mar 01.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Autor: Wilson LA; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Perry LD; Institute of Child Health and Centre for Neuromuscular Diseases, Neurosciences Unit, The Dubowitz Neuromuscular Centre, University College London, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Schon KR; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Frezatti RSS; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Raga S; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Naidu K; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa., Köken ÖY; Faculty of Medicine, Department of Pediatric Neurology, Akdeniz University, Antalya, Turkey., Polat I; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey., Kapapa MM; Department of Physiotherapy, University of Zambia School of Health Sciences & University Teaching Hospital Neurology Research Office, Lusaka, Zambia., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Nel M; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Gao F; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Schoonen M; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Bisschoff M; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Vorster A; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Jonvik H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Human R; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Lubbe E; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Nonyane M; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Srivastava K; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Reyaz A; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Mishra R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Trainor CI; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Steyn EC; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., Mahungu AC; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Hiz AS; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey., Çavdarlı B; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Semerci Gündüz CN; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Ceylan GG; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey., Nagappa M; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Tallapaka KB; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, Telangana, India., Govindaraj P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Narayanappa G; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Nandeesh BN; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Wa Somwe S; Department of Clinical Sciences, School of Medicine and Health Sciences, University of Lusaka, Lusaka, Zambia., Bearden DR; University of Zambia Department of Educational Psychology, Lusaka, Zambia.; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY 14642, USA., Kvalsund MP; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY 14642, USA.; Department of Internal Medicine, University of Zambia School of Medicine, Lusaka, Zambia., Ramdharry GM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Oktay Y; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey.; Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey., Yiş U; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey., Topaloğlu H; Yeditepe University Hospitals, Istanbul, Turkey., Sarkozy A; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Henning F; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa., Wilmshurst JM; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., Heckmann JM; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., van der Westhuizen FH; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Sobreira CFDR; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Tomaselli PJ; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Marques W Jr; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Bhatia R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Srivastava MVP; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Yareeda S; Department of Neurology, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, Telangana, India., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India., Vishnu VY; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India., Thangaraj K; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, Telangana, India., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Muntoni F; Institute of Child Health and Centre for Neuromuscular Diseases, Neurosciences Unit, The Dubowitz Neuromuscular Centre, University College London, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5098-5109.

Axonemal structures reveal mechanoregulatory and disease mechanisms.

Autor: Walton T; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA., Gui M; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA.; Liangzhu Laboratory, Zhejiang University, Hangzhou, China., Velkova S; Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Fassad MR; Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Hirst RA; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester, UK., Haarman E; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., O'Callaghan C; Infection, Immunity & Inflammation Department, NIHR GOSH BRC, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Bottier M; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK., Burgoyne T; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Mitchison HM; Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Brown A; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA. alan_brown@hms.harvard.edu.

Publikováno v: Nature [Nature] 2023 Jun; Vol. 618 (7965), pp. 625-633. Date of Electronic Publication: 2023 May 31.