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Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy.

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Title: Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy.
Authors: Hayes LH; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Dastgir J; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Atlantic Health System, Goryeb Children's Hospital, Morristown, NJ, USA., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Division of Neurology, Children's National Hospital, Washington, DC, USA., Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Division of Pediatric Neurology, Oregon Health and Science University, Portland, OR, USA., Vuillerot C; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Paediatric Physical Medicine and Rehabilitation Department, NeuroMyogène Institute, Lyon University, Lyon, France., Iannaccone ST; UT Southwestern Medical Center Dallas, Dallas, TX, USA., Grosmann CM; Departments of Neurosciences and Pediatrics, School of Medicine, University of California, San Diego, Rady Children's Hospital, San Diego, CA, USA., Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024 Nov; Vol. 11 (6), pp. 1211-1220.
Publication Type: Journal Article
Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Hayes+LH%22">Hayes LH</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Neuhaus+SB%22">Neuhaus SB</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mohassel+P%22">Mohassel P</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Foley+AR%22">Foley AR</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Dastgir+J%22">Dastgir J</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Atlantic Health System, Goryeb Children's Hospital, Morristown, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Bharucha-Goebel+D%22">Bharucha-Goebel D</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Division of Neurology, Children's National Hospital, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Leach+ME%22">Leach ME</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.; Division of Pediatric Neurology, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Vuillerot+C%22">Vuillerot C</searchLink>; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Paediatric Physical Medicine and Rehabilitation Department, NeuroMyogène Institute, Lyon University, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Iannaccone+ST%22">Iannaccone ST</searchLink>; UT Southwestern Medical Center Dallas, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Grosmann+CM%22">Grosmann CM</searchLink>; Departments of Neurosciences and Pediatrics, School of Medicine, University of California, San Diego, Rady Children's Hospital, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
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