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The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.

• Authors : Vijzelaar, Raymon¹ ; Snetselaar, Reinier¹; Clausen, Martijn¹

Subjects: *MOTOR neuron diseases; *SPINAL muscular atrophy; *GENE frequencyEUROPE

• Source: PLoS ONE. 7/24/2019, Vol. 14 Issue 7, p1-12. 12p.

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SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.

• Authors : Kayadjanian, Nathalie¹ ; Burghes, Arthur²; Finkel, Richard S.³

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, Special section p1-3. 3p. 1 Chart.

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

• Authors : Cances C; ANCHOVY Working Group

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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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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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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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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Bluebird Bio's First Gene Therapy Wins Approval in Europe (1).

• Authors : Paton, James (AUTHOR)

Subjects: GENE therapy; SPINAL muscular atrophyEUROPE

• Source: Bloomberg.com. 6/3/2019, pN.PAG-N.PAG. 1p.

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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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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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