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Academic Journal

Administration of adipose-derived stem cells extracellular vesicles in a murine model of spinal muscular atrophy: effects of a new potential therapeutic strategy.

  • Authors : Virla F; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Turano E

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

  • Source: Stem cell research & therapy [Stem Cell Res Ther] 2024 Apr 01; Vol. 15 (1), pp. 94. Date of Electronic Publication: 2024 Apr 01.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512

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Academic Journal

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor.

  • Authors : Xie Q; Horae Gene Therapy Center, UMass Chan Medical School, Worcester, MA, USA.; Department of Microbiology and Physiological Systems, UMass Chan Medical School, Worcester, MA, USA.

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

  • Source: EMBO molecular medicine [EMBO Mol Med] 2024 Apr; Vol. 16 (4), pp. 945-965. Date of Electronic Publication: 2024 Feb 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries.

  • Authors : Jiang Y; United Diagnostic and Research Center for Clinical Genetics, Women and Children's Hospital, School of Medicine & School of Public Health, Xiamen University, Xiamen, Fujian, 361003, PR China; Biobank, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, 361003, PR China. Electronic address: .

Subjects: Developing Countries* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

  • Source: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104921. Date of Electronic Publication: 2024 Feb 05.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.

  • Authors : Yao M; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.; Department of Infectious Diseases, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Subjects: Multiplex Polymerase Chain Reaction* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

  • Source: BMC neurology [BMC Neurol] 2024 Mar 11; Vol. 24 (1), pp. 93. Date of Electronic Publication: 2024 Mar 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Academic Journal

[Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+0" genotype].

  • Authors : Li S; Department of Obstetrics and Gynecology, Experimental Department of Obstetrics and Gynecology Institute, Guangdong Provincial Key Laboratory for Major Obstetric Diseases, Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology, Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory for Maternal-Fetal Medicine, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China. .; He J

Subjects: Genetic Testing* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar 10; Vol. 41 (3), pp. 294-299.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Pseudo-obstructive sleep disordered breathing - definition and progression in Spinal Muscular Atrophy.

  • Authors : Trucco F; Department Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK. Electronic address: .

Subjects: Sleep Apnea Syndromes* ; Sleep Apnea, Obstructive*/Sleep Apnea, Obstructive*/Sleep Apnea, Obstructive*/diagnosis ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/complications

  • Source: Sleep medicine [Sleep Med] 2024 Mar; Vol. 115, pp. 61-65. Date of Electronic Publication: 2024 Feb 02.Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100898759 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort.

  • Authors : Gülşen M; Autism, Mental Special Needs and Rare Diseases Department, General Directorate of Health Services, Ministry of Health, Türkiye. Electronic address: .; Ceylan AC

Subjects: DNA Copy Number Variations* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Mar 01; Vol. 555, pp. 117793. Date of Electronic Publication: 2024 Feb 02.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen.

  • Authors : Šimić G; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Vukić V

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

  • Source: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Mar; Vol. 30 (3), pp. e14051. Date of Electronic Publication: 2022 Dec 13.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101473265 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole-Body Muscle Magnetic Resonance Imaging in 81 Patients with Spinal and Bulbar Muscular Atrophy: A Prospective Study.

  • Authors : Kim H; Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Seo I

Subjects: Bulbo-Spinal Atrophy, X-Linked*/Bulbo-Spinal Atrophy, X-Linked*/Bulbo-Spinal Atrophy, X-Linked*/diagnostic imaging ; Bulbo-Spinal Atrophy, X-Linked*/Bulbo-Spinal Atrophy, X-Linked*/Bulbo-Spinal Atrophy, X-Linked*/pathology ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnostic imaging

  • Source: Annals of neurology [Ann Neurol] 2024 Mar; Vol. 95 (3), pp. 596-606. Date of Electronic Publication: 2023 Dec 22.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond.

Subjects: Neonatal Screening* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

  • Source: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2024 Mar; Vol. 51 (2), pp. 203-209. Date of Electronic Publication: Publisher: published by Cambridge University Press for the Canadian Neurological Sciences Federation Country of Publication: England NLM ID: 0415227 Publication

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  • 1-10 of  11,257 results for ""Muscular Atrophy, Spinal""