A multi-source approach to determine SMA incidence and research ready population

Intrathecal Injections in Children With Spinal Muscular Atrophy

(2016) Manon Haché et al.   JOURNAL OF CHILD NEUROLOGY

SMA subtype concordance in siblings: Findings from the cure SMA cohort

(2016) C. Jones et al.   NEUROMUSCULAR DISORDERS

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

(2015) Richard Finkel et al.   NEUROMUSCULAR DISORDERS

SMA carrier testing: a meta-analysis of differences in test performance by ethnic group

(2014) William Kim MacDonald et al.   PRENATAL DIAGNOSIS

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

(2013) Catherine L. Bladen et al.   JOURNAL OF NEUROLOGY

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

(2013) Sunil Rodger et al.   Orphanet Journal of Rare Diseases

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET NEUROLOGY

Newborn and carrier screening for spinal muscular atrophy

(2010) Thomas W. Prior et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?

(2010) Maria Jedrzejowska et al.   NEUROEPIDEMIOLOGY

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

(2009) Eva Arkblad et al.   ACTA PAEDIATRICA

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Unaffected patients with a homozygous absence of the SMN1 gene

(2008) Maria Jędrzejowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Carrier frequency of spinal muscular atrophy

(2008) Robert B Wilson et al.   LANCET

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET