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  • 1-9 ل  9 نتائج ل ""spinal muscular atrophy""
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Academic Journal

Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.

Subjects: Muscular Atrophy, Spinal* ; Spinal Muscular Atrophies of Childhood*; Asia

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 29; Vol. 17 (1), pp. 300. Date of Electronic Publication: 2022 Jul 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

The Burden of Spinal Muscular Atrophy on Informal Caregivers.

  • Authors : Aranda-Reneo I; Department of Economic Analysis and Finances, Faculty of Social Sciences, University of Castilla-La Mancha, 45600 Talavera de la Reina, Spain.; Peña-Longobardo LM

Subjects: Caregivers* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/epidemiology; Child

  • Source: International journal of environmental research and public health [Int J Environ Res Public Health] 2020 Dec 02; Vol. 17 (23). Date of Electronic Publication: 2020 Dec 02.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238455 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-4601

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Academic Journal

The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe.

  • Authors : Peña-Longobardo LM; Department of Economic Analysis and Finance, University of Castilla-La Mancha, Cobertizo San Pedro Martir S/N, 45071 Toledo, Spain.; Aranda-Reneo I

Subjects: Health Status* ; Muscular Atrophy, Spinal* ; Quality of Life*

  • Source: International journal of environmental research and public health [Int J Environ Res Public Health] 2020 Aug 05; Vol. 17 (16). Date of Electronic Publication: 2020 Aug 05.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238455 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-4601

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Academic Journal

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

  • Authors : Viollet L; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393. Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France. ; Zarhrate M

Subjects: Chromosome Mapping* ; Genes, Recessive* ; Linkage Disequilibrium*

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2004 Jun; Vol. 12 (6), pp. 483-8.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813

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Academic Journal

The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States.

  • Authors : Peterson I; Faegre Drinker Biddle & Reath LLP, Washington, DC, USA.; Cruz R

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy ; Neuromuscular Diseases*; Europe

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 May 22; Vol. 15 (1), pp. 118. Date of Electronic Publication: 2020 May 22.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Progress in therapeutic antisense applications for neuromuscular disorders.

  • Authors : Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. ; van Ommen GJ

Subjects: Genetic Therapy*/Genetic Therapy*/Genetic Therapy*/methods; Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*drug therapy ; Neuromuscular Diseases/Neuromuscular Diseases/Neuromuscular Diseases/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Feb; Vol. 18 (2), pp. 146-53. Date of Electronic Publication: 2009 Oct 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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