Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients

Author:

Rouault Françoise,Christie-Brown Vanessa,Broekgaarden Ria,Gusset Nicole,Henderson Doug,Marczuk Patryk,Schwersenz Inge,Bellis Gil,Cottet Christian

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens;Sugarman;Eur J Hum Genet,2012

2. Spinal muscular atrophies;Darras;Pediatr Clin North Am,2015

3. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations;Ogino;Eur J Hum Genet,2004

4. Prospective cohort study of spinal muscular atrophy types 2 and 3;Kaufmann;Neurology,2012

5. Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases);Barois;Bull Acad Natl Med,2005

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