Related references
Note: Only part of the references are listed.Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset
Zhihua Feng et al.
HUMAN MOLECULAR GENETICS (2016)
Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models
Yimin Hua et al.
GENES & DEVELOPMENT (2015)
Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy
Sarah Tisdale et al.
JOURNAL OF NEUROSCIENCE (2015)
SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice
James Palacino et al.
NATURE CHEMICAL BIOLOGY (2015)
Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy
James N. Sleigh et al.
HUMAN MOLECULAR GENETICS (2014)
Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models
Erkan Y. Osman et al.
HUMAN MOLECULAR GENETICS (2014)
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
Monir Shababi et al.
JOURNAL OF ANATOMY (2014)
SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
Nikolai A. Naryshkin et al.
SCIENCE (2014)
SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease
Darrick K. Li et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2014)
A Cell System for Phenotypic Screening of Modifiers of SMN2 Gene Expression and Function
Darrick K. Li et al.
PLOS ONE (2013)
Spinal muscular atrophy: going beyond the motor neuron
Gillian Hamilton et al.
TRENDS IN MOLECULAR MEDICINE (2013)
SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs
Sarah Tisdale et al.
CELL REPORTS (2013)
RNA-Sequencing Quantification of Hepatic Ontogeny of Phase-I Enzymes in Mice
Lai Peng et al.
DRUG METABOLISM AND DISPOSITION (2013)
Glucose metabolism and pancreatic defects in spinal muscular atrophy
Melissa Bowerman et al.
ANNALS OF NEUROLOGY (2012)
Spinal muscular atrophy: The role of SMN in axonal mRNA regulation
Claudia Fallini et al.
BRAIN RESEARCH (2012)
An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
Francesco Lotti et al.
CELL (2012)
Mouse models of SMA: tools for disease characterization and therapeutic development
Thomas W. Bebee et al.
HUMAN GENETICS (2012)
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Paul N. Porensky et al.
HUMAN MOLECULAR GENETICS (2012)
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
Karen K. Y. Ling et al.
HUMAN MOLECULAR GENETICS (2012)
Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models
Melissa Osborne et al.
HUMAN MOLECULAR GENETICS (2012)
A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy
Matteo Ruggiu et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
Targeting RNA-Splicing for SMA Treatment
Jianhua Zhou et al.
MOLECULES AND CELLS (2012)
Barrier mechanisms in the developing brain
Norman R. Saunders et al.
FRONTIERS IN PHARMACOLOGY (2012)
Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders
Adam K. Bevan et al.
MOLECULAR THERAPY (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
George Z. Mentis et al.
NEURON (2011)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Yimin Hua et al.
GENES & DEVELOPMENT (2010)
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
Sungchan Cho et al.
GENES & DEVELOPMENT (2010)
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
Christopher R. Heier 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)
Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy
Karen K. Y. Ling et al.
PLOS ONE (2010)
Three Patterns of Cytochrome P450 Gene Expression during Liver Maturation in Mice
Steven N. Hart et al.
DRUG METABOLISM AND DISPOSITION (2009)
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Eileen Workman et al.
HUMAN MOLECULAR GENETICS (2009)
Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy
Alexandra Prufer de Queiroz Campos Araujo et al.
JOURNAL OF PEDIATRICS (2009)
Regulation of SMN Protein Stability
Barrington G. Burnett et al.
MOLECULAR AND CELLULAR BIOLOGY (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)
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang et al.
CELL (2008)
Identification of a battery of tests for drug candidate evaluation in the SMNΔ7 neonate model of spinal muscular atrophy
Bassern F. El-Khodor et al.
EXPERIMENTAL NEUROLOGY (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)
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)
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
C. Angelozzi et al.
JOURNAL OF MEDICAL GENETICS (2008)
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
Francesca Gabanella et al.
PLOS ONE (2007)
Chaperoning ribonucleoprotein biogenesis in health and disease
Livio Pellizzoni
EMBO REPORTS (2007)
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
B Wirth et al.
HUMAN GENETICS (2006)
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)
Inverse correlation between SMN1 and SMN2 copy numbers:: evidence for gene conversion from SMN2 to SMN1
S Ogino et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model
C Cifuentes-Diaz et al.
HUMAN MOLECULAR 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)
A mouse model for spinal muscular atrophy
HM Hsieh-Li et al.
NATURE GENETICS (2000)
Share Paper
