요약정보
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
- Resource Type
- Academic Journal
- Authors
- Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; van de Locht M; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Reunert J; Department of General Pediatrics, University of Münster, Münster, 48149, Germany.; McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, 3004, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, 3168, Australia.; Zaki M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; de Winter JM; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Conijn S; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Hoomoedt D; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Neto OLA; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, 20122, Italy.; Viaene AN; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, 19104 PA, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, 13009, France.; Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Napoli L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Park JH; Department of General Pediatrics, University Hospital Münster, Münster, 48149 Germany.; Immadisetty K; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.; Miles LB; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.; Essawi M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; McModie S; Department of Neurology, Alfred Health, Melbourne, Victoria, 3004, Australia.; Ferreira LF; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.; Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA.; Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; ElBagoury N; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Johnson KR; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Zhang Y; Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Laing NG; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Davis MR; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.; Hwee DT; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Hartman JJ; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Malik FI; Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.; Kekenes-Huskey PM; Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.; Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.; Sharaf-Eldin W; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Marquardt T; Department of General Pediatrics, University of Münster, Münster, 48149, Germany.; Ravenscroft G; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
- Source
- Publisher:
American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN:19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE - Subject
- Language
- English