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Academic Journal

Genetic defects are common in myopathies with tubular aggregates.

  • Authors : Gang Q; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.

Subjects: Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*pathology ; Muscular Diseases/Muscular Diseases/Muscular Diseases/*genetics ; Muscular Diseases/Muscular Diseases/Muscular Diseases/*pathology

  • Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Jan; Vol. 9 (1), pp. 4-15. Date of Electronic Publication: 2021 Dec 15.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Academic Journal

The pathophysiological effects of exercise in the management of idiopathic inflammatory myopathies: A scoping review.

  • Authors : Coskun Benlidayi I; Department of Physical Medicine and Rehabilitation, Cukurova University Faculty of Medicine, Adana, Turkey.; Gupta L

Subjects: Exercise Therapy*; Exercise/Exercise/Exercise/*physiology ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*physiopathology

  • Source: International journal of rheumatic diseases [Int J Rheum Dis] 2021 Jul; Vol. 24 (7), pp. 896-903. Date of Electronic Publication: 2021 Apr 01.Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model:

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Academic Journal

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.

  • Authors : Qian FY; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China.; Guo YD

Subjects: Mutation*; Distal Myopathies/Distal Myopathies/Distal Myopathies/*genetics ; HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/*genetics Myofibrillar Myopathy

  • Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2021 Feb 08; Vol. 9 (1), pp. 23. Date of Electronic Publication: 2021 Feb 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960

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Academic Journal

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.

  • Authors : Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.

Subjects: Exercise/Exercise/Exercise/*physiology ; Fatigue/Fatigue/Fatigue/*metabolism ; Mitochondrial Myopathies/Mitochondrial Myopathies/Mitochondrial Myopathies/*metabolism

  • Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 May; Vol. 8 (5), pp. 1086-1095. Date of Electronic Publication: 2021 Mar 31.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Academic Journal

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation.

  • Authors : Pathak P; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Blech-Hermoni Y

Subjects: Mechanotransduction, Cellular* ; Point Mutation*; Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics Myofibrillar Myopathy

  • Source: Communications biology [Commun Biol] 2021 Mar 19; Vol. 4 (1), pp. 355. Date of Electronic Publication: 2021 Mar 19.Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients.

  • Authors : Kurashige T; Department of Neurology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Kure, Hiroshima, Japan.; Department of Clinical Neuroscience and Therapeutics, Division of Applied Life Science, Hiroshima University Institute of Biomedical and Health Sciences, Hiroshima, Japan.

Subjects: Distal Myopathies/Distal Myopathies/Distal Myopathies/*genetics ; Distal Myopathies/Distal Myopathies/Distal Myopathies/*metabolism ; Mucin-1/Mucin-1/Mucin-1/*metabolism

  • Source: Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2021 Feb; Vol. 41 (1), pp. 29-36. Date of Electronic Publication: 2020 Nov 22.Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 9606526 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies.

  • Authors : Guglielmi V; Department of Neurological and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.; Marini M

Subjects: Carrier Proteins/Carrier Proteins/Carrier Proteins/*metabolism ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*metabolism ; Myopathies, Structural, Congenital/Myopathies, Structural, Congenital/Myopathies, Structural, Congenital/*metabolism Myofibrillar Myopathy

  • Source: Histopathology [Histopathology] 2015 Dec; Vol. 67 (6), pp. 859-65. Date of Electronic Publication: 2015 May 25.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7704136 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Late-onset megaconial myopathy in mice lacking group I Paks.

  • Authors : Joseph GA; Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1020, New York, NY, 10029, USA.; Graduate School of Biological Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1020, New York, NY, 10029, USA.

Subjects: Mitochondrial Myopathies/Mitochondrial Myopathies/Mitochondrial Myopathies/*metabolism ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*metabolism ; p21-Activated Kinases/p21-Activated Kinases/p21-Activated Kinases/*metabolism

  • Source: Skeletal muscle [Skelet Muscle] 2019 Feb 21; Vol. 9 (1), pp. 5. Date of Electronic Publication: 2019 Feb 21.Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101561193 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model.

  • Authors : Fongy A; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, UMRS 974, F-75013, Paris, France.; Falcone S

Subjects: Dynamin II/Dynamin II/Dynamin II/*metabolism ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*metabolism ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*pathology

  • Source: Scientific reports [Sci Rep] 2019 Feb 07; Vol. 9 (1), pp. 1580. Date of Electronic Publication: 2019 Feb 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

ER stress in skeletal muscle remodeling and myopathies.

  • Authors : Afroze D; Department of Anatomical Sciences and Neurobiology, University of Louisville School of Medicine, KY, USA.; Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, India.

Subjects: Endoplasmic Reticulum Stress* ; Unfolded Protein Response*; Endoplasmic Reticulum/Endoplasmic Reticulum/Endoplasmic Reticulum/*pathology

  • Source: The FEBS journal [FEBS J] 2019 Jan; Vol. 286 (2), pp. 379-398. Date of Electronic Publication: 2017 Dec 29.Publisher: Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies Country of Publication: England NLM ID: 101229646 Publication

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