Related references
Note: Only part of the references are listed.Longitudinal natural history of type I spinal muscular atrophy: a critical review
Eugenio Mercuri et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Long-term follow-up of onasemnogene abeparvovec gene therapy in spinal muscular atrophy type 1 (SMA1)
J. Mendell et al.
NEUROMUSCULAR DISORDERS (2020)
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
Marc-Olivier Deguise et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2019)
AVXS-101 (Onasemnogene Abeparvovec) for SMA 1: Comparative Study with a Prospective Natural History Cohort
Samiah A. Al-Zaidy et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2019)
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Richard S. Finkel et al.
NEUROMUSCULAR DISORDERS (2018)
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Maite Calucho et al.
NEUROMUSCULAR DISORDERS (2018)
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Eugenio Mercuri et al.
NEUROMUSCULAR DISORDERS (2018)
Emerging Issues in AAV-Mediated In Vivo Gene Therapy
Pasqualina Colella et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2018)
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
J. R. Mendell et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Natural history of infantile-onset spinal muscular atrophy
Stephen J. Kolb et al.
ANNALS OF NEUROLOGY (2017)
Developmental milestones in type I spinal muscular atrophy
Roberto De Sanctis et al.
NEUROMUSCULAR DISORDERS (2016)
Observational study of spinal muscular atrophy type I and implications for clinical trials
Richard S. Finkel et al.
NEUROLOGY (2014)
Age at Disease Onset Predicts Likelihood and Rapidity of Growth Failure Among Infants and Young Children With Spinal Muscular Atrophy Types 1 and 2
Douglas M. Sproule et al.
JOURNAL OF CHILD NEUROLOGY (2012)
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
Allan M. Glanzman et al.
PEDIATRIC PHYSICAL THERAPY (2011)
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2010)
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability
A. M. Glanzman et al.
NEUROMUSCULAR DISORDERS (2010)
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2009)
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
M Feldkötter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
MD Mailman et al.
GENETICS IN MEDICINE (2002)
Self-complementary recombinant adeno-associated virus (scAAV) vectors promote efficient transduction independently of DNA synthesis
DM McCarty et al.
GENE THERAPY (2001)
CMV-β-actin promoter directs higher expression from an adeno-associated viral vector in the liver than the cytomegalovirus or elongation factor 1α promoter and results in therapeutic levels of human factor X in mice
LF Xu et al.
HUMAN GENE THERAPY (2001)