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Academic Journal

Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family.

  • Authors : Purcell N; University of Minnesota Medical Center Fairview: M Health Fairview University of Minnesota Medical Center East Bank, Minneapolis, MN.; Manousakis G

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/diagnosis ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics

  • Source: Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2024 Sep 01; Vol. 26 (1), pp. 42-46.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100887391 Publication Model: Print Cited Medium: Internet

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Academic Journal

Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy.

  • Authors : Oswalia J; School of Biotechnology, Jawaharlal Nehru University, New Delhi, 110067, India. Electronic address: .; Singh S

Subjects: Autophagy*/Autophagy*/Autophagy*/genetics ; Autophagy*/Autophagy*/Autophagy*/drug effects ; Mutation*/Mutation*/Mutation*/genetics Distal myopathy, Nonaka type

  • Source: Experimental cell research [Exp Cell Res] 2024 Jul 01; Vol. 440 (1), pp. 114118. Date of Electronic Publication: 2024 Jun 08.Publisher: Academic Press Country of Publication: United States NLM ID: 0373226 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

  • Authors : Lv X; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, 250012, Shandong, China.; Gao F

Subjects: Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/diagnosis ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/genetics ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/pathologyDistal myopathy, Nonaka type

  • Source: Neurogenetics [Neurogenetics] 2021 Mar; Vol. 22 (1), pp. 1-10. Date of Electronic Publication: 2020 Aug 06.Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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

[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene].

  • Authors : Hara K; Department of Neurology, Akita Red Cross Hospital.; Miyata H

Subjects: Mutation*; Cardiac Myosins/Cardiac Myosins/Cardiac Myosins/*genetics ; Distal Myopathies/Distal Myopathies/Distal Myopathies/*diagnosis

  • Source: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2019 Dec 25; Vol. 59 (12), pp. 823-828. Date of Electronic Publication: 2019 Nov 23.Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A mutant MATR3 mouse model to explain multisystem proteinopathy.

  • Authors : Zhang X; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.; Yamashita S

Subjects: Mutation*; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; Distal Myopathies/Distal Myopathies/Distal Myopathies/*genetics Myopathy, Distal 2

  • Source: The Journal of pathology [J Pathol] 2019 Oct; Vol. 249 (2), pp. 182-192. Date of Electronic Publication: 2019 Jun 18.Publisher: John Wiley And Sons Country of Publication: England NLM ID: 0204634 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy.

  • Authors : Gemelli C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal and Infantile Sciences (DINOGMI), University of Genova, Largo Daneo 3, 16132 Genova, Italy. Electronic address: .; Prada V

Subjects: Actins/Actins/Actins/*genetics ; Distal Myopathies/Distal Myopathies/Distal Myopathies/*genetics ; Filamins/Filamins/Filamins/*genetics Myofibrillar Myopathy

  • Source: Journal of the neurological sciences [J Neurol Sci] 2019 Mar 15; Vol. 398, pp. 75-78. Date of Electronic Publication: 2019 Jan 17.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

GNE myopathy in Chinese population: hotspot and novel mutations.

  • Authors : Chen Y; Department of Neurology, Fudan University, Shanghai, China.; Xi J

Subjects: Mutation*; Asian People/Asian People/Asian People/*genetics ; Distal Myopathies/Distal Myopathies/Distal Myopathies/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2019 Jan; Vol. 64 (1), pp. 11-16. Date of Electronic Publication: 2018 Nov 02.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Late onset distal myopathy: A new telethoninopathy.

  • Authors : Blanco-Palmero VA; Servicio de Neurología, Hospital Universitario 12 de Octubre, Avenida de Córdoba s/n, 28041 Madrid, Spain. Electronic address: .; Hernández-Laín A

Subjects: Mutation*; Connectin/Connectin/Connectin/*genetics ; Distal Myopathies/Distal Myopathies/Distal Myopathies/*genetics

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Jan; Vol. 29 (1), pp. 80-83. Date of Electronic Publication: 2018 Nov 13.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.

  • Authors : Zhang KY; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Clinic Medicine of 8-year Program, Xiangya School of Medicine, Central South University, Changsha, China.

Subjects: Genetic Predisposition to Disease* ; Mutation* ; Phenotype*Distal myopathy, Nonaka type

  • Source: Journal of cellular and molecular medicine [J Cell Mol Med] 2021 Nov; Vol. 25 (22), pp. 10494-10503. Date of Electronic Publication: 2021 Oct 22.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  101 results for ""Distal Myopathies""