Discovery of new myositis genetic associations through leveraging other immune-mediated diseases.

Autor: Reales G; Cambridge Institute of Therapeutic Immunology and Infectious Disease (CITIID), University of Cambridge, Cambridge, UK; Department of Medicine, University of Cambridge, Cambridge, UK. Electronic address: grealesm@gmail.com., Amos CI; Department of Medicine, Baylor College of Medicine, Houston, TX, USA., Benveniste O; Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière Hospital, Paris, France., Chinoy H; Department of Rheumatology, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre, Salford, UK; Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., De Bleecker J; Department of Neurology, Ghent University, Ghent, Belgium; Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium., De Paepe B; Department of Neurology, Ghent University, Ghent, Belgium; Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium., Doria A; Rheumatology Unit, Department of Medicine, University of Padova, Padova, Italy., Gregersen PK; The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute, Manhasset, NY, USA., Lamb JA; Epidemiology and Public Health Group, Division of Population Health, Health Services Research & Primary Care, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Limaye V; Rheumatology Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia; Discipline of Medicine, Adelaide University, Adelaide, South Australia, Australia., Lundberg IE; Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Machado PM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology. London, UK; Centre for Rheumatology, UCL Division of Medicine, University College London, London, UK., Maurer B; Department of Rheumatology and Immunology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Miller FW; Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, NIH, Bethesda, MD, USA., Molberg Ø; Department of Rheumatology, Oslo University Hospital, Oslo, Norway., Pachman LM; Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Padyukov L; Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Radstake TR; Department of Rheumatology and Clinical Immunology, University Medical Center, Utrecht, the Netherlands., Reed AM; Department of Pediatrics, Duke University, Durham, NC, USA., Rider LG; Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, NIH, Bethesda, MD, USA., Rothwell S; Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Selva-O'Callaghan A; Internal Medicine Department, Vall d'Hebron General Hospital, Universitat Autonoma de Barcelona, Barcelona, Spain., Vencovský J; Institute of Rheumatology and Department of Rheumatology, First Medical Faculty, Charles University, Prague, Czech Republic., Wedderburn LR; Centre for Adolescent Rheumatology Versus Arthritis, UCL Great Ormond Street Institute of Child Health, University College London, London, UK; NIHR Biomedical Research Centre at Great Ormond Street Hospital, London, UK., Wallace C; Cambridge Institute of Therapeutic Immunology and Infectious Disease (CITIID), University of Cambridge, Cambridge, UK; Department of Medicine, University of Cambridge, Cambridge, UK; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.

Publikováno v: HGG advances [HGG Adv] 2024 Oct 10; Vol. 5 (4), pp. 100336. Date of Electronic Publication: 2024 Jul 22.

Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: results from the MYONET registry.

Autor: Hum RM; Centre for Musculoskeletal Research, Division of Musculoskeletal & Dermatological Sciences, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK.; The University of Manchester, National Institute for Health Research Manchester Biomedical Research Centre, Manchester, UK., Lilleker JB; Centre for Musculoskeletal Research, Division of Musculoskeletal & Dermatological Sciences, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK.; Northern Care Alliance NHS Foundation Trust, Manchester Centre for Clinical Neuroscience, Salford Royal Hospital, Salford, UK., Lamb JA; Division of Population Health, Health Services Research and Primary Care, The University of Manchester Faculty of Biology Medicine and Health, Epidemiology and Public Health Group, Manchester, UK., Oldroyd AGS; Centre for Musculoskeletal Research, Division of Musculoskeletal & Dermatological Sciences, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK.; The University of Manchester, National Institute for Health Research Manchester Biomedical Research Centre, Manchester, UK., Wang G; Department of Rheumatology, China-Japan Friendship Hospital, Beijing, China., Wedderburn LR; Great Ormond Street Hospital for Children NHS Foundation Trust, Infection, Immunity and Inflammation, London, UK., Diederichsen LP; Center for Rheumatology and Spine Diseases, Copenhagen University Hospital, Copenhagen, Denmark., Schmidt J; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Department of Neurology and Pain Treatment, Neuromuscular Center, Center for Translational Medicine, Immanuel Klinik Rüdersdorf, University Hospital of the Brandenburg Medical School Theodor Fontane, Rüdersdorf bei Berlin, Germany.; Faculty of Health Sciences Brandenburg, Brandenburg Medical School Theodor Fontane, Rüdersdorf bei Berlin, Germany., Danieli MG; Clinica Medica, Dipartimento di Scienze Cliniche e Molecolari, Universita Politecnica delle Marche, Ancona, Italy., Oakley P; Myositis UK, Southampton, UK., Griger Z; Department of Immunology, University of Debrecen, Debrecen, Hajdú-Bihar, Hungary., Nguyen Thi Phuong T; Internal Medicine Department, Hanoi Medical University, Hanoi, Vietnam., Kodishala C; Clinical Immunology and Rheumatology, St John's National Academy of Health Sciences, Bangalore, Karnataka, India.; Department of Rheumatology, Mayo Clinic, Rochester, MN, USA., Vazquez-Del Mercado M; Division de Medicina Interna, Servicio de Reumatologia, Hospital Civil Dr. Juan I. Menchaca, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico., Andersson H; Department of Rheumatology, Oslo University Hospital, Oslo, Norway., De Paepe B; Department of Neurology, Universitair Ziekenhuis Gent, Ghent, Belgium., De Bleecker JL; Department of Neurology, Universitair Ziekenhuis Gent, Ghent, Belgium., Maurer B; Department of Rheumatology and Immunology, Inselspital University Hospital Bern, Bern, Switzerland., McCann L; Department of Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Pipitone N; Department of Rheumatology, Arcispedale Santa Maria Nuova di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., McHugh N; Department of Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, UK.; Department of Pharmacy and Pharmacology, University of Bath, Bath, UK., New RP; MRC/ARUK Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK., Ollier WE; Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, UK., Krogh NS; Zitelab Aps, Copenhagen, Denmark., Vencovsky J; Institute of Rheumatology and Department of Rheumatology, Charles University, Praha, Czech Republic., Lundberg IE; Division of Rheumatology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Gastroenterology, Dermatology, and Rheumatology, Karolinska University Hospital, Stockholm, Sweden., Chinoy H; Centre for Musculoskeletal Research, Division of Musculoskeletal & Dermatological Sciences, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK.; Northern Care Alliance NHS Foundation Trust, Department of Rheumatology, Salford Royal Hospital, Salford, UK.

Publikováno v: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2024 Aug 01; Vol. 63 (8), pp. 2093-2100.

Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome-Wide Imputation

Autor: Rothwell, S., Amos, C. I., Miller, F. W., Rider, L. G., Lundberg, I. E., Gregersen, P. K., Vencovsky, J., Mchugh, N., Limaye, V., Selva-O'Callaghan, A., Hanna, M. G., Machado, P. M., Pachman, L. M., Reed, A. M., Molberg, Ø., Benveniste, O., Mathiesen, P., Radstake, T., Doria, A., De Bleecker, J. L., De Paepe, B., Maurer, B., Ollier, W. E., Padyukov, L., O'Hanlon, T. P., Lee, A., Wedderburn, L. R., Chinoy, H., Lamb, J. A.

Publikováno v: Scientia

Idiopathic inflammatory myopathies; Genome Miopatías inflamatorias idiopáticas; Genoma Miopaties inflamatòries idiopàtiques; Genoma Objective The idiopathic inflammatory myopathies (IIMs) are heterogeneous diseases thought to be initiated by immu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9963c6ca7912cc631e5ff1d85cf563f
https://hdl.handle.net/11577/3476647

What Nutraceuticals Can Do for Duchenne Muscular Dystrophy: Lessons Learned from Amino Acid Supplementation in Mouse Models.

Autor: De Paepe B; Department of Neurology, Ghent University & Neuromuscular Reference Center, Ghent University Hospital, Route 830, Corneel Heymanslaan 10, 9000 Ghent, Belgium.

Publikováno v: Biomedicines [Biomedicines] 2023 Jul 19; Vol. 11 (7). Date of Electronic Publication: 2023 Jul 19.

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.

Autor: Ervilha Pereira P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Meylemans A; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., LeBlanc P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Versluys L; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Copley KE; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Rubien JD; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Altheimer C; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA., Peetermans M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Debackere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Vanakker O; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Baets J; Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerp, Belgium.; Faculty of Medicine and Health Sciences, Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Verhoeven K; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Neurology, Sint-Jan Hospital Bruges, Brugge, Belgium., Lammens M; Department of Pathology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., De Paepe B; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Barmada SJ; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA., Shorter J; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., De Bleecker JL; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Bogaert E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. elke.bogaert@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. elke.bogaert@ugent.be., Dermaut B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bart.dermaut@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. bart.dermaut@ugent.be.

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2023 Jun; Vol. 145 (6), pp. 793-814. Date of Electronic Publication: 2023 Mar 31.