相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy
W. Arnold et al.
NEUROBIOLOGY OF DISEASE (2016)
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
Claudia A. Chiriboga et al.
NEUROLOGY (2016)
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study
Stephen J. Kolb et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials
Phillip Zaworski et al.
PLOS ONE (2016)
A Large Animal Model of Spinal Muscular Atrophy and Correction of Phenotype
Sandra I. Duque et al.
ANNALS OF NEUROLOGY (2015)
SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice
James Palacino et al.
NATURE CHEMICAL BIOLOGY (2015)
Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy
Laurent P. Bogdanik et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Tetranectin as a Potential Biomarker for Stable Coronary Artery Disease
Yanjia Chen et al.
SCIENTIFIC REPORTS (2015)
SPINAL MUSCULAR ATROPHY: DIAGNOSIS AND MANAGEMENT IN A NEW THERAPEUTIC ERA
W. David Arnold et al.
MUSCLE & NERVE (2015)
Cross-sectional Evaluation of Electrical Impedance Myography and Quantitative Ultrasound for the Assessment of Duchenne Muscular Dystrophy in a Clinical Trial Setting
Seward B. Rutkove et al.
PEDIATRIC NEUROLOGY (2014)
SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
Nikolai A. Naryshkin et al.
SCIENCE (2014)
Electrophysiological biomarkers in spinal muscular atrophy: proof of concept
W. David Arnold et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2014)
Cerebrospinal fluid fetuin-A is a biomarker of active multiple sclerosis
Violaine K. Harris et al.
MULTIPLE SCLEROSIS JOURNAL (2013)
SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
Dione T. Kobayashi et al.
PLOS ONE (2013)
Glucose metabolism and pancreatic defects in spinal muscular atrophy
Melissa Bowerman et al.
ANNALS OF NEUROLOGY (2012)
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Paul N. Porensky et al.
HUMAN MOLECULAR GENETICS (2012)
Prospective cohort study of spinal muscular atrophy types 2 and 3
Petra Kaufmann et al.
NEUROLOGY (2012)
Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
Richard S. Finkel et al.
PLOS ONE (2012)
Observational Study of Spinal Muscular Atrophy Type 2 and 3 Functional Outcomes Over 1 Year
Petra Kaufmann et al.
ARCHIVES OF NEUROLOGY (2011)
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
Elisa Dominguez et al.
HUMAN MOLECULAR GENETICS (2011)
Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy
Francesco D. Tiziano et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
Marco A. Passini et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
A Rare SMN2 Variant in a Previously Unrecognized Composite Splicing Regulatory Element Induces Exon 7 Inclusion and Reduces the Clinical Severity of Spinal Muscular Atrophy
Myriam Vezain et al.
HUMAN MUTATION (2010)
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
Marco A. Passini et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
The c.859G > C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
S. Bernal et al.
JOURNAL OF MEDICAL GENETICS (2010)
COMPOUND MUSCLE ACTION POTENTIAL AND MOTOR FUNCTION IN CHILDREN WITH SPINAL MUSCULAR ATROPHY
Aga Lewelt et al.
MUSCLE & NERVE (2010)
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)
Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy
Chiara F. Valori et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Thomas W. Prior et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Regulation of SMN Protein Stability
Barrington G. Burnett et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
AN ANALYSIS OF DISEASE SEVERITY BASED ON SMN2 COPY NUMBER IN ADULTS WITH SPINAL MUSCULAR ATROPHY
Bakri Elsheikh et al.
MUSCLE & NERVE (2009)
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Arthur H. M. Burghes et al.
NATURE REVIEWS NEUROSCIENCE (2009)
Osteopontin might be involved in bone remodelling rather than in inflammation in ankylosing spondylitis
S. T. Choi et al.
RHEUMATOLOGY (2008)
Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function
KJ Swoboda et al.
ANNALS OF NEUROLOGY (2005)
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
TT Le et al.
HUMAN MOLECULAR GENETICS (2005)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni et al.
NATURE GENETICS (2002)
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)
Motor unit number estimation in infants and children with spinal muscular atrophy
MB Bromberg et al.
MUSCLE & NERVE (2002)
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
MD Mailman et al.
GENETICS IN MEDICINE (2002)
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
UR Monani et al.
HUMAN MOLECULAR GENETICS (2000)
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
CL Lorson et al.
HUMAN MOLECULAR GENETICS (2000)
A mouse model for spinal muscular atrophy
HM Hsieh-Li et al.
NATURE GENETICS (2000)