Combien de patients atteints de SMA en France ?

J. Andoni Urtizberea; Ferroudja Daidj

doi:10.1051/medsci/201834s209

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Volume 34 (Novembre 2018) Hors série n°2

Med Sci (Paris), 34 (2018) 32-34

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Numéro		Med Sci (Paris) Volume 34, Novembre 2018 Les Cahiers de Myologie


Page(s)		32 - 34
Section		Mise au point
DOI		https://doi.org/10.1051/medsci/201834s209
Publié en ligne		12 novembre 2018

Bielsky AR Fuhr PG Parsons JA Yaster M A retrospective cohort study of children with spinal muscular atrophy type 2 receiving anesthesia for intrathecal administration of nusinersen. Paediatr Anaesth 2018 ; Oct 4. 10.1111/pan.13500 [Google Scholar]
Murrell DV, Crawford CA, Jackson CT, et al. Identifying opportunities to provide family-centered care for families with children with type 1 spinal muscular atrophy. J Pediatr Nurs 2018. pii : S0882–5963(18)30126-X. [Google Scholar]
Tizzano EF, Zafeiriou D. Prenatal aspects in spinal muscular atrophy : from early detection to early presymptomatic intervention. Eur J Paediatr Neurol 2018. pii : S1090–3798(18)30338–6. [Google Scholar]
Boardman FK Young PJ Griffiths FE Newborn screening for spinal muscular atrophy : the views of affected families and adults. Am J Med Genet A 2017 ; 173 : 1546–1561. [CrossRef] [PubMed] [Google Scholar]
Barois A, Mayer M, Desguerre I, et al. Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases). Bull Acad Natl Med 2005; 189 : 1181–98; discussion 1198–9. [PubMed] [Google Scholar]
Verhaart IEC Robertson A Wilson IJ et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy : a literature review. Orphanet J Rare Dis 2017 ; 12 : 124. [CrossRef] [PubMed] [Google Scholar]
Verhaart IEC Robertson A Leary R et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol 2017 ; 264 : 1465–1473. [CrossRef] [PubMed] [Google Scholar]

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[1] Bielsky AR Fuhr PG Parsons JA Yaster M A retrospective cohort study of children with spinal muscular atrophy type 2 receiving anesthesia for intrathecal administration of nusinersen. Paediatr Anaesth 2018 ; Oct 4. 10.1111/pan.13500 [Google Scholar]

[2] Murrell DV, Crawford CA, Jackson CT, et al. Identifying opportunities to provide family-centered care for families with children with type 1 spinal muscular atrophy. J Pediatr Nurs 2018. pii : S0882–5963(18)30126-X. [Google Scholar]

[3] Tizzano EF, Zafeiriou D. Prenatal aspects in spinal muscular atrophy : from early detection to early presymptomatic intervention. Eur J Paediatr Neurol 2018. pii : S1090–3798(18)30338–6. [Google Scholar]

[4] Boardman FK Young PJ Griffiths FE Newborn screening for spinal muscular atrophy : the views of affected families and adults. Am J Med Genet A 2017 ; 173 : 1546–1561. [CrossRef] [PubMed] [Google Scholar]

[5] Barois A, Mayer M, Desguerre I, et al. Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases). Bull Acad Natl Med 2005; 189 : 1181–98; discussion 1198–9. [PubMed] [Google Scholar]

[6] Verhaart IEC Robertson A Wilson IJ et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy : a literature review. Orphanet J Rare Dis 2017 ; 12 : 124. [CrossRef] [PubMed] [Google Scholar]

[7] Verhaart IEC Robertson A Leary R et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol 2017 ; 264 : 1465–1473. [CrossRef] [PubMed] [Google Scholar]