Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study

A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

(2014) Sally Lawton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

(2014) W. David Arnold et al.   MUSCLE & NERVE

Observational study of spinal muscular atrophy type I and implications for clinical trials

(2014) R. S. Finkel et al.   NEUROLOGY

Health-Related Quality of Life in Children and Adolescents With Spinal Muscular Atrophy in the Czech Republic

(2014) Helena Kocova et al.   PEDIATRIC NEUROLOGY

Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN

(2014) J. R. Botkin et al.   PEDIATRICS

Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy

(2013) Erin Rothwell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

(2013) Dian K. Nurputra et al.   ANNALS OF HUMAN GENETICS

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

(2013) Molly F. Wood et al.   MUSCLE & NERVE

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

(2013) Nathalie Kayadjanian et al.   Orphanet Journal of Rare Diseases

Observational Study of Spinal Muscular Atrophy Type 2 and 3

(2011) Petra Kaufmann   ARCHIVES OF NEUROLOGY

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky et al.   HUMAN MOLECULAR GENETICS

Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III

(2011) Allan M. Glanzman et al.   JOURNAL OF CHILD NEUROLOGY

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

(2011) Cathleen M. Lutz et al.   JOURNAL OF CLINICAL INVESTIGATION

Spinal Muscular Atrophy: A Clinical and Research Update

(2011) Jennifer A. Markowitz et al.   PEDIATRIC NEUROLOGY

Spinal muscular atrophy: a time for screening

(2010) Thomas W Prior   CURRENT OPINION IN PEDIATRICS

Self-reported quality of life has no correlation with functional status in children and adolescents with spinal muscular atrophy

(2010) Cristiane M. de Oliveira et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

(2010) Ching H. Wang et al.   JOURNAL OF CHILD NEUROLOGY

Living and ageing with spinal muscular atrophy type 2: Observations among an unexplored patient population

(2010) Joergen Jeppesen et al.   Developmental Neurorehabilitation

Understanding the Experience of Living with Spinal Muscular Atrophy

(2009) Connie Lamb et al.   JOURNAL OF NEUROSCIENCE NURSING

The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular Module

(2009) Susan T. Iannaccone et al.   NEUROMUSCULAR DISORDERS

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET