Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy

(2018) Roberto De Sanctis et al.   NEUROMUSCULAR DISORDERS

The clinical landscape for SMA in a new therapeutic era

(2017) K Talbot et al.   GENE THERAPY

Population Pharmacokinetics of Nusinersen in the Cerebral Spinal Fluid and Plasma of Pediatric Patients With Spinal Muscular Atrophy Following Intrathecal Administrations

(2017) Kenneth T. Luu et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4

(2017) Renske I Wadman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

(2017) Ingrid E. C. Verhaart et al.   Orphanet Journal of Rare Diseases

Spinal muscular atrophy—recent therapeutic advances for an old challenge

(2015) Irene Faravelli et al.   Nature Reviews Neurology

Spinal Muscular Atrophies

(2015) Basil T. Darras   PEDIATRIC CLINICS OF NORTH AMERICA

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

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

The Genetics of Spinal Muscular Atrophy: Progress and Challenges

(2014) Michelle A. Farrar et al.   Neurotherapeutics

Age at Disease Onset Predicts Likelihood and Rapidity of Growth Failure Among Infants and Young Children With Spinal Muscular Atrophy Types 1 and 2

(2012) Douglas M. Sproule et al.   JOURNAL OF CHILD NEUROLOGY

Spinal muscular atrophy

(2011) Adele D'Amico et al.   Orphanet Journal of Rare Diseases

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability

(2010) A.M. Glanzman et al.   NEUROMUSCULAR DISORDERS