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。Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
Darryl C. De Vivo et al.
NEUROMUSCULAR DISORDERS (2019)
Emerging antisense oligonucleotide and viral therapies for amyotrophic lateral sclerosis
Cindy V. Ly et al.
CURRENT OPINION IN NEUROLOGY (2018)
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
Ewout J. N. Groen et al.
HUMAN MOLECULAR GENETICS (2018)
Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain
Charlotte J. Sumner et al.
JOURNAL OF CLINICAL INVESTIGATION (2018)
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
E. Mercuri et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Population Pharmacokinetics of Nusinersen in the Cerebral Spinal Fluid and Plasma of Pediatric Patients With Spinal Muscular Atrophy Following Intrathecal Administrations
Kenneth T. Luu et al.
JOURNAL OF CLINICAL PHARMACOLOGY (2017)
Antisense Oligonucleotides: Translation from Mouse Models to Human Neurodegenerative Diseases
Kathleen M. Schoch et al.
NEURON (2017)
The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy
Constantin d'Ydewalle et al.
NEURON (2017)
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
J. R. Mendell et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
R. S. Finkel et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy a literature review
Ingrid E. C. Verhaart et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Therapeutic strategies for spinal muscular atrophy: SMN and beyond
Melissa Bowerman et al.
DISEASE MODELS & MECHANISMS (2017)
Cerebrospinal fluid volume in neonates undergoing spinal anaesthesia: a descriptive magnetic resonance imaging study
A. Rochette et al.
BRITISH JOURNAL OF ANAESTHESIA (2016)
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Richard S. Finkel et al.
LANCET (2016)
Individual Case Analysis of Postmortem Interval Time on Brain Tissue Preservation
Jeffrey A. Blair et al.
PLOS ONE (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 Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls
Renske I. Wadman et al.
PLOS ONE (2016)
SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice
James Palacino et al.
NATURE CHEMICAL BIOLOGY (2015)
Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics
Katherine V. Bricceno et al.
HUMAN MOLECULAR GENETICS (2014)
Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation
Shingo Kariya et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
Nikolai A. Naryshkin et al.
SCIENCE (2014)
TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals
Kentaro Sahashi et al.
GENES & DEVELOPMENT (2012)
Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy
Tara L. Martinez et al.
JOURNAL OF NEUROSCIENCE (2012)
Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis
Holly B. Kordasiewicz et al.
NEURON (2012)
A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes
Natalia N. Singh et al.
PLOS ONE (2012)
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
Cathleen M. Lutz et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (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)
Key aspects of phrenic motoneuron and diaphragm muscle development during the perinatal period
Carlos B. Mantilla et al.
JOURNAL OF APPLIED PHYSIOLOGY (2008)
Multiplicity of cerebrospinal fluid functions: New challenges in health and disease
Conrad E. Johanson et al.
FLUIDS AND BARRIERS OF THE CNS (2008)
Postmortem delay has minimal effect on brain RNA integrity
John F. Ervin et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2007)
Brain protein preservation largely depends on the postmortem storage temperature: Implications for study of proteins in human neurologic disease and managemetn of brain banks: A BrainNet Europe Study
Isidre Ferrer et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2007)
Human postmortem tissue: What quality markers matter?
Ana D. Stan et al.
BRAIN RESEARCH (2006)
Neuronal-specific roles of the survival motor neuron protein: Evidence from survival motor neuron expression patterns in the developing human central nervous system
Alessio Giavazzi et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2006)
The role of histone acetylation in SMN gene expression
LE Kernochan et al.
HUMAN MOLECULAR GENETICS (2005)
Implication of fetal SMN2 expression in type ISMA pathogenesis:: Protection or pathological gain of function?
C Soler-Botija et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells
RL Rouget et al.
BIOCHEMICAL JOURNAL (2005)
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
TW Prior et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
Biochemical and molecular studies using human autopsy brain tissue
MR Hynd et al.
JOURNAL OF NEUROCHEMISTRY (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)
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
Jo Vandesompele et al.
GENOME BIOLOGY (2002)
Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
S Pagliardini et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
