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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

Axial involvement as a prominent feature in SMPX-related distal myopathy.

  • Authors : Salman D; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, NE13BZ, UK. Electronic address: .; Bolano-Diaz C

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

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jun; Vol. 39, pp. 3-4. Date of Electronic Publication: 2024 Apr 04.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/pathology ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/genetics; Adult

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Dec; Vol. 33 (12), pp. 983-987. Date of Electronic Publication: 2023 Oct 30.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile.

  • Authors : Belhassen I; Laboratory of Neurogenetics, Parkinson's Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Tunisia.; Laroussi S

Subjects: 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*/metabolism ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/geneticsDysferlinopathy; Limb-girdle muscular dystrophy, type 2B; Myopathy, Distal, with Anterior Tibial Onset

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Oct; Vol. 33 (10), pp. 718-727. Date of Electronic Publication: 2023 Aug 18.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?

  • Authors : Mitrani-Rosenbaum S; Goldyne Savad Institute of Gene Therapy, Hadassah Medical Center, The Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel. Electronic address: .; Attali R

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/diagnosis ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/geneticsDistal myopathy, Nonaka type

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Oct; Vol. 33 (10), pp. 762-768. Date of Electronic Publication: 2023 Aug 27.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Review

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.

  • Authors : Mori-Yoshimura M; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address: .; Aizawa K

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/pathology ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/genetics Glycogen Storage Disease, Type IXD

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Sep; Vol. 32 (9), pp. 769-773. Date of Electronic Publication: 2022 May 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

Glycogen accumulation in GNE myopathy.

  • Authors : Granger A; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Pinto MV

Subjects: Distal Myopathies*; Glycogen ; Humans Distal myopathy, Nonaka type

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Sep; Vol. 32 (9), pp. 774-775. Date of Electronic Publication: 2022 Jul 13.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy.

  • Authors : Chompoopong P; Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.; Milone M

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/genetics ; Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/pathology ; Muscular Diseases*/Muscular Diseases*/Muscular Diseases*/genetics

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Jun; Vol. 32 (6), pp. 521-526. Date of Electronic Publication: 2022 Mar 31.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Upper body involvement in GNE myopathy assessed by muscle imaging.

  • Authors : Torchia E; Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: .; Lucchini M

Subjects: Distal Myopathies*/Distal Myopathies*/Distal Myopathies*/pathology; Humans ; Lower Extremity/Lower Extremity/Lower Extremity/pathology Distal myopathy, Nonaka type

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 410-418. Date of Electronic Publication: 2022 Jan 12.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

  • Authors : Mroczek M; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Durmus H

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

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Apr; Vol. 30 (4), pp. 310-314. Date of Electronic Publication: 2020 Feb 14.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  69 results for ""Distal Myopathies""