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。Glucose metabolism and pancreatic defects in spinal muscular atrophy
Melissa Bowerman et al.
ANNALS OF NEUROLOGY (2012)
SMN-inducing compounds for the treatment of spinal muscular atrophy
Monique A. Lorson et al.
FUTURE MEDICINAL CHEMISTRY (2012)
Therapeutic strategies for the treatment of spinal muscular atrophy
Jonathan J. Cherry et al.
FUTURE MEDICINAL CHEMISTRY (2012)
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Paul N. Porensky et al.
HUMAN MOLECULAR GENETICS (2012)
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
Melissa Bowerman et al.
NEUROMUSCULAR DISORDERS (2012)
Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy
E. Somers et al.
NEUROMUSCULAR DISORDERS (2012)
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
Chantal A. Mutsaers et al.
HUMAN MOLECULAR GENETICS (2011)
Temporal requirement for high SMN expression in SMA mice
Thanh T. Le et al.
HUMAN MOLECULAR GENETICS (2011)
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)
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
Faraz Farooq et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Discovery, Synthesis, and Biological Evaluation of Novel SMN Protein Modulators
Jingbo Xiao et al.
JOURNAL OF MEDICINAL CHEMISTRY (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
A screen for regulators of survival of motor neuron protein levels
Nina R. Makhortova et al.
NATURE CHEMICAL BIOLOGY (2011)
Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice
Rocky G. Gogliotti et al.
NEUROBIOLOGY OF DISEASE (2011)
Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
George Z. Mentis et al.
NEURON (2011)
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
Marco A. Passini et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy
Rocky G. Gogliotti et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
Matthew E. R. Butchbach et al.
HUMAN MOLECULAR GENETICS (2010)
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
Markus Riessland et al.
HUMAN MOLECULAR GENETICS (2010)
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
Thomas M. Wishart et al.
HUMAN MOLECULAR GENETICS (2010)
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
Christopher R. Heier et al.
HUMAN MOLECULAR GENETICS (2010)
Cardiac defects contribute to the pathology of spinal muscular atrophy models
Monir Shababi et al.
HUMAN MOLECULAR GENETICS (2010)
Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
Adam K. Bevan et al.
HUMAN MOLECULAR GENETICS (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)
Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late
Suzan M. Hammond et al.
PLOS ONE (2010)
Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy
Michelle L. Hastings et al.
SCIENCE TRANSLATIONAL MEDICINE (2009)
DcpS as a Therapeutic Target for Spinal Muscular Atrophy
Jasbir Singh et al.
ACS CHEMICAL BIOLOGY (2008)
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Shingo Kariya et al.
HUMAN MOLECULAR GENETICS (2008)
Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy
John Thurmond et al.
JOURNAL OF MEDICINAL CHEMISTRY (2008)
DcpS, a general modulator of cap-binding protein-dependent processes?
Sophie Bail et al.
RNA BIOLOGY (2008)
DcpS scavenger decapping enzyme can modulate pre-mRNA splicing
Vincent Shen et al.
RNA (2008)
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
Lyndsay M. Murray et al.
HUMAN MOLECULAR GENETICS (2008)
Consensus statement for Standard of Care in Spinal Muscular Atrophy
Ching H. Wang et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
Amy M. Avila et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
Virginia B. Mattis et al.
HUMAN GENETICS (2006)
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
E Hahnen et al.
JOURNAL OF NEUROCHEMISTRY (2006)
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
J Jarecki et al.
HUMAN MOLECULAR GENETICS (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)
Gait dynamics in trisomic mice: quantitative neurological traits of Down syndrome
TG Hampton et al.
PHYSIOLOGY & BEHAVIOR (2004)
The scavenger mRNA decapping enzyme DcpS is a member of the HIT family of pyrophosphatases
HD Liu et al.
EMBO JOURNAL (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)
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
C Andreassi et al.
HUMAN MOLECULAR GENETICS (2001)
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)