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Academic Journal

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/diagnosis; Humans

  • Source: Revista de neurologia [Rev Neurol] 2024 Sep 29; Vol. 79 (5), pp. 137-142.Publisher: Revista De Neurologia Country of Publication: Spain NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578

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Academic Journal

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.

  • Authors : Bortolani S; From the UOC di Neurologia (S. Bortolani, G.P., C.S., M.L., M. Mirabella, S.S., M. Monforte, E.R., G.T.), Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome; Department of Neurosciences Rita Levi Montalcini (S. Bortolani, T.E.M.), University of Torino, Italy

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/pathology ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/epidemiology Myofibrillar Myopathy

  • Source: Neurology [Neurology] 2024 Aug 27; Vol. 103 (4), pp. e209697. Date of Electronic Publication: 2024 Aug 05.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.

  • Authors : Kotioumbé M; Faculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, BP: 1805, Mali.; Maiga AB

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/diagnosis ; Multienzyme Complexes*/Multienzyme Complexes*/Multienzyme Complexes*/genetics

  • Source: Neurogenetics [Neurogenetics] 2024 Oct; Vol. 25 (4), pp. 487-492. Date of Electronic Publication: 2024 Aug 01.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

Current advance on distal myopathy genetics.

  • Authors : Ranta-Aho J; Folkhälsan Research Center.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/pathology; Humans

  • Source: Current opinion in neurology [Curr Opin Neurol] 2024 Oct 01; Vol. 37 (5), pp. 515-522. Date of Electronic Publication: 2024 Jul 16.Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9319162 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.

  • Authors : Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: .

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/pathology ; Myosin Heavy Chains*/Myosin Heavy Chains*/Myosin Heavy Chains*/genetics

  • Source: Stem cell research [Stem Cell Res] 2024 Oct; Vol. 80, pp. 103491. Date of Electronic Publication: 2024 Jul 09.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.

  • Authors : Li Y; The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, Yunnan 650118, China.; Li W

Subjects: Pedigree* ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Multienzyme Complexes*/Multienzyme Complexes*/Multienzyme Complexes*/geneticsDistal myopathy, Nonaka type

  • Source: Gene [Gene] 2024 Nov 15; Vol. 927, pp. 148750. Date of Electronic Publication: 2024 Jul 04.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet

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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

Defining the landscape of TIA1 and SQSTM1 digenic myopathy.

  • Authors : Panos-Basterra P; Centre de Référence des maladies Neuromusculaires Nord/Est/Ile-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, APHP, 47-83 bd de l'Hôpital, Paris 75013, France; Servicio de Neurología, Hospital de la Princesa, Madrid, Spain.

Subjects: Sequestosome-1 Protein*/Sequestosome-1 Protein*/Sequestosome-1 Protein*/genetics ; T-Cell Intracellular Antigen-1*/T-Cell Intracellular Antigen-1*/T-Cell Intracellular Antigen-1*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Sep; Vol. 42, pp. 43-52. Date of Electronic Publication: 2024 Jul 24.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.

  • Authors : Yoshioka W; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.; Nakamura H

Subjects: Registries* ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/physiopathology Distal myopathy, Nonaka type

  • Source: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 4453-4461. Date of Electronic Publication: 2024 May 01.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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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  • 1-10 of  546 results for ""Distal Myopathies""