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Academic Journal

Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population.

  • Authors : Khanbazi A; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran.; Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/epidemiology ; Survival of Motor Neuron 1 Protein*/Survival of Motor Neuron 1 Protein*/Survival of Motor Neuron 1 Protein*/genetics

  • Source: Scientific reports [Sci Rep] 2024 Dec 02; Vol. 14 (1), pp. 29880. Date of Electronic Publication: 2024 Dec 02.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Unveiling the adverse events of Nusinersen in spinal muscular atrophy management based on FAERS database.

  • Authors : Jiang Y; Mental Health Center of Jiangnan University, Wuxi Central Rehabilitation Hospital, Wuxi, Jiangsu, 214151, China.; Shen Y

Subjects: Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/adverse effects ; Oligonucleotides*/Oligonucleotides*/Oligonucleotides*/therapeutic use ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy

  • Source: Scientific reports [Sci Rep] 2024 Jul 25; Vol. 14 (1), pp. 17138. Date of Electronic Publication: 2024 Jul 25.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes.

  • Authors : Luo D; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA, 50011, USA.; Ottesen EW

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/metabolism ; Proteome*/Proteome*/Proteome*/metabolism

  • Source: Scientific reports [Sci Rep] 2024 May 07; Vol. 14 (1), pp. 10442. Date of Electronic Publication: 2024 May 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

An interpretable data-driven prediction model to anticipate scoliosis in spinal muscular atrophy in the era of (gene-) therapies.

  • Authors : Vu-Han TL; Center for Musculoskeletal Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany. .; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, Charitéplatz 1, 10117, Berlin, Germany. .

Subjects: Scoliosis*/Scoliosis*/Scoliosis*/therapy ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/therapy

  • Source: Scientific reports [Sci Rep] 2024 May 23; Vol. 14 (1), pp. 11838. Date of Electronic Publication: 2024 May 23.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy.

  • Authors : Lapp HS; Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Freigang M

Subjects: Troponin T*/Troponin T*/Troponin T*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis; Adult

  • Source: Scientific reports [Sci Rep] 2024 Mar 19; Vol. 14 (1), pp. 6634. Date of Electronic Publication: 2024 Mar 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

  • Authors : Theuriet J; Hôpital Neurologique Pierre Wertheimer, Service d'électroneuromyographie et de Pathologies Neuromusculaires, Hospices Civils de Lyon, Groupement Est, Bron, France. .; Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315, Université Lyon1, Faculté de Médecine Lyon Est, Lyon, France. .

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis; Humans

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jan; Vol. 32 (1), pp. 37-43. Date of Electronic Publication: 2023 Jun 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study.

  • Authors : Bitetti I; Pediatric Neurology, Santobono-Pausilipon Children's Hospital, Naples, Italy. .; Lanzara V

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/therapy ; Spinal Muscular Atrophies of Childhood*/Spinal Muscular Atrophies of Childhood*/Spinal Muscular Atrophies of Childhood*/drug therapy

  • Source: Gene therapy [Gene Ther] 2023 Aug; Vol. 30 (7-8), pp. 592-597. Date of Electronic Publication: 2022 May 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited

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Academic Journal

Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.

  • Authors : Lumpkin CJ; Division of Neurology, Nemours Children's Hospital Delaware, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA.; Department of Biological Sciences, University of Delaware, Newark, DE, USA.

Subjects: Proto-Oncogene Proteins c-akt*/Proto-Oncogene Proteins c-akt*/Proto-Oncogene Proteins c-akt*/metabolism ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

  • Source: Scientific reports [Sci Rep] 2023 Jun 26; Vol. 13 (1), pp. 10374. Date of Electronic Publication: 2023 Jun 26.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy.

  • Authors : Reilly A; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada.

Subjects: Dependovirus*/Dependovirus*/Dependovirus*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/pathology

  • Source: Gene therapy [Gene Ther] 2022 Sep; Vol. 29 (9), pp. 544-554. Date of Electronic Publication: 2022 Apr 25.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited

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Academic Journal

Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models.

  • Authors : Chilcott EM; AGCTlab.org, Centre of Gene and Cell Therapy, Centre for Biomedical Sciences, Department of Biological Sciences, School of Life Sciences and Environment, Royal Holloway University of London, TW20 0EX, London, UK. .; Institute for Women's Health, UCL, 86-96 Chenies Mews, London, WC1E 6HX, UK. .

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/therapy ; Rodentia*

  • Source: Gene therapy [Gene Ther] 2022 Sep; Vol. 29 (9), pp. 498-512. Date of Electronic Publication: 2021 Oct 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited

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  • 1-10 of  1,114 results for ""SPINAL muscular atrophy""