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Academic Journal

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.

  • Authors : Jalali-Sefid-Dashti M; South African Medical Research Council Bioinformatics Unit, South African National Bioinformatics Institute, University of the Western Cape, Bellville, 7535, South Africa.; Nel M

Subjects: Mutation*; Dysferlin/Dysferlin/Dysferlin/*genetics ; Exome/Exome/Exome/*genetics Dysferlinopathy

  • Source: BMC medical genetics [BMC Med Genet] 2018 Jun 07; Vol. 19 (1), pp. 95. Date of Electronic Publication: 2018 Jun 07.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

In vivo and in vitro dysferlin expression in human muscle satellite cells.

  • Authors : De Luna N; Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Gallardo E

Subjects: Membrane Proteins/Membrane Proteins/Membrane Proteins/*metabolism ; Muscle Proteins/Muscle Proteins/Muscle Proteins/*metabolism ; Muscular Diseases/Muscular Diseases/Muscular Diseases/*metabolism

  • Source: Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2004 Oct; Vol. 63 (10), pp. 1104-13.Publisher: Oxford University Press Country of Publication: England NLM ID: 2985192R Publication Model: Print Cited Medium: Print ISSN: 0022-3069

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Academic Journal

Physiological aspects of muscular adaptations to training translated to neuromuscular diseases.

Subjects: Adaptation, Physiological*; Exercise/Exercise/Exercise/*physiology ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*physiopathology Carnitine palmitoyl transferase 2 deficiency

  • Source: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2019 Dec 01; Vol. 38 (4), pp. 197-206. Date of Electronic Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: eCollection Cited Medium: Internet ISSN:

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Academic Journal

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

  • Authors : Park J; Department of Rehabilitation Medicine, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.; Oh HM

Subjects: Asian People/Asian People/Asian People/*genetics ; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods ; Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*diagnosis

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Oct; Vol. 7 (10), pp. e00947. Date of Electronic Publication: 2019 Sep 01.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The spectrum of hereditary neuromuscular disorders in the Pakistani population.

  • Authors : Akbar F; Division of Women and Child Health, The Aga Khan University, Karachi, Pakistan.; Saleem SM

Subjects: Neuromuscular Diseases*/Neuromuscular Diseases*/Neuromuscular Diseases*/diagnosis ; Neuromuscular Diseases*/Neuromuscular Diseases*/Neuromuscular Diseases*/epidemiology ; Neuromuscular Diseases*/Neuromuscular Diseases*/Neuromuscular Diseases*/genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Oct; Vol. 191 (10), pp. 2536-2550. Date of Electronic Publication: 2023 Jun 27.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Neuromuscular pathology case.

  • Authors : Nguyen L; Departments of Pathology (Neuropathology) and †Neurology, School of Medicine, University of Pittsburgh, Pittsburgh, PA.; Lacomis D

Subjects: Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*pathology; Adenosine Triphosphatases/Adenosine Triphosphatases/Adenosine Triphosphatases/metabolism ; Adult

  • Source: Journal of clinical neuromuscular disease [J Clin Neuromuscul Dis] 2014 Sep; Vol. 16 (1), pp. 15-9.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100887391 Publication Model: Print Cited Medium: Internet

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Academic Journal

Dysferlinopathies.

  • Authors : Urtizberea JA; Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France. ; Bassez G

Subjects: Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Muscle Proteins/Muscle Proteins/Muscle Proteins/*genetics ; Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*genetics

  • Source: Neurology India [Neurol India] 2008 Jul-Sep; Vol. 56 (3), pp. 289-97.Publisher: Medknow Publications Country of Publication: India NLM ID: 0042005 Publication Model: Print Cited Medium: Print ISSN: 0028-3886

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Academic Journal

Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy.

  • Authors : Seror P; Electromyography Laboratory, 146 avenue Ledru Rollin, 75011 Paris, France. ; Krahn M

Subjects: Fatty Acids/Fatty Acids/Fatty Acids/*metabolism ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*metabolism ; Muscle Proteins/Muscle Proteins/Muscle Proteins/*metabolism

  • Source: Muscle & nerve [Muscle Nerve] 2008 Mar; Vol. 37 (3), pp. 410-4.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print Cited Medium: Print ISSN: 0148-639X

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Academic Journal

Molecular and cellular basis of genetically inherited skeletal muscle disorders.

  • Authors : Dowling JJ; Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Division of Neurology and Program for Genetics and Genome Biology, The Hospital for Sick Children Peter Gilgan Centre for Research and Learning (PGCRL), Toronto, Ontario, Canada.

Subjects: Dystrophin/Dystrophin/Dystrophin/*genetics ; Muscle Proteins/Muscle Proteins/Muscle Proteins/*genetics ; Muscular Dystrophy, Duchenne/Muscular Dystrophy, Duchenne/Muscular Dystrophy, Duchenne/*genetics

  • Source: Nature reviews. Molecular cell biology [Nat Rev Mol Cell Biol] 2021 Nov; Vol. 22 (11), pp. 713-732. Date of Electronic Publication: 2021 Jul 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962782 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Guidelines for genetic testing of muscle and neuromuscular junction disorders.

  • Authors : Nicolau S; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Milone M

Subjects: Genetic Testing* ; Mutation*; Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*diagnosis

  • Source: Muscle & nerve [Muscle Nerve] 2021 Sep; Vol. 64 (3), pp. 255-269. Date of Electronic Publication: 2021 Jun 16.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  356 results for ""Dysferlin""