Published in J Neurosci on December 09, 2009
The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia. Cerebellum (2014) 0.94
Local insulin-like growth factor I expression is essential for Purkinje neuron survival at birth. Cell Death Differ (2010) 0.87
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons. Mol Neurodegener (2012) 0.83
Regulation of AMP-activated protein kinase signaling by AFF4 protein, member of AF4 (ALL1-fused gene from chromosome 4) family of transcription factors, in hypothalamic neurons. J Biol Chem (2012) 0.81
Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex. PLoS One (2014) 0.81
New insights into behaviour using mouse ENU mutagenesis. Hum Mol Genet (2012) 0.80
Ischemia-induced autophagy contributes to neurodegeneration in cerebellar Purkinje cells in the developing rat brain and in primary cortical neurons in vitro. Biochim Biophys Acta (2015) 0.79
IGF-1 in autosomal dominant cerebellar ataxia - open-label trial. Cerebellum Ataxias (2014) 0.75
Evolution and functions of long noncoding RNAs. Cell (2009) 17.54
Mouse genomic variation and its effect on phenotypes and gene regulation. Nature (2011) 10.66
A functional genetic link between distinct developmental language disorders. N Engl J Med (2008) 4.99
Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev (2002) 4.80
The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling. Hum Mol Genet (2006) 3.39
Genomic and transcriptional co-localization of protein-coding and long non-coding RNA pairs in the developing brain. PLoS Genet (2009) 3.38
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell (2007) 3.06
A mouse model for the metabolic effects of the human fat mass and obesity associated FTO gene. PLoS Genet (2009) 2.68
Pharmacological strategies for muscular dystrophy. Nat Rev Drug Discov (2003) 2.32
Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes. Genome Biol (2010) 2.20
A transcriptomic atlas of mouse neocortical layers. Neuron (2011) 2.08
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther (2011) 2.06
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. Nature (2012) 2.04
High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am J Hum Genet (2007) 2.01
KDM2B links the Polycomb Repressive Complex 1 (PRC1) to recognition of CpG islands. Elife (2012) 1.99
Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet (2006) 1.85
Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet (2003) 1.85
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet (2009) 1.76
Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nat Rev Genet (2013) 1.70
Novel markers reveal subpopulations of subplate neurons in the murine cerebral cortex. Cereb Cortex (2008) 1.67
Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep (2004) 1.66
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A (2009) 1.66
Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet (2011) 1.56
Utrophin binds laterally along actin filaments and can couple costameric actin with sarcolemma when overexpressed in dystrophin-deficient muscle. Mol Biol Cell (2002) 1.44
Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol (2007) 1.39
Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration. J Cell Sci (2006) 1.34
Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol Ther (2009) 1.31
Therapeutic approaches to muscular dystrophy. Hum Mol Genet (2011) 1.30
Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One (2011) 1.29
A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. J Neurosci (2003) 1.29
Sexual selection and the adaptive evolution of mammalian ejaculate proteins. Mol Biol Evol (2007) 1.28
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet (2009) 1.26
Identification and characterization of murine SCARA5, a novel class A scavenger receptor that is expressed by populations of epithelial cells. J Biol Chem (2006) 1.25
A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse. Proc Natl Acad Sci U S A (2007) 1.22
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet (2005) 1.21
Diaphragm rescue alone prevents heart dysfunction in dystrophic mice. Hum Mol Genet (2010) 1.19
High quality RNA from multiple brain regions simultaneously acquired by laser capture microdissection. BMC Mol Biol (2009) 1.19
The long non-coding RNA Paupar regulates the expression of both local and distal genes. EMBO J (2014) 1.19
Transcriptome sequencing, microarray, and proteomic analyses reveal cellular and metabolic impact of hepatitis C virus infection in vitro. Hepatology (2010) 1.17
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther (2013) 1.16
Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J Cell Sci (2010) 1.14
The integration profile of EIAV-based vectors. Mol Ther (2006) 1.14
Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. PLoS Genet (2011) 1.13
ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. Hum Mol Genet (2004) 1.12
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping. Hum Mol Genet (2012) 1.10
Identification of valid housekeeping genes for quantitative RT-PCR analysis of cardiosphere-derived cells preconditioned under hypoxia or with prolyl-4-hydroxylase inhibitors. Mol Biol Rep (2011) 1.10
The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet (2015) 1.08
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum Mol Genet (2008) 1.08
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet (2004) 1.08
Brain, know thy transcriptome, know thyself. Neuron (2012) 1.08
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain (2011) 1.08
Muscular dystrophy--reason for optimism? Cell (2002) 1.07
Dystrophin- and MLP-deficient mouse hearts: marked differences in morphology and function, but similar accumulation of cytoskeletal proteins. FASEB J (2004) 1.07
A- and B-utrophin have different expression patterns and are differentially up-regulated in mdx muscle. J Biol Chem (2002) 1.07
Evidence for conserved post-transcriptional roles of unitary pseudogenes and for frequent bifunctionality of mRNAs. Genome Biol (2012) 1.07
Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem (2007) 1.07
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain (2004) 1.06
Evaluating the links between schizophrenia and sleep and circadian rhythm disruption. J Neural Transm (Vienna) (2012) 1.05
A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration. Neuromuscul Disord (2004) 1.05
AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy. Mol Ther (2013) 1.03
FTO is expressed in neurones throughout the brain and its expression is unaltered by fasting. PLoS One (2011) 1.02
Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis (2009) 1.02
SNARE proteins and schizophrenia: linking synaptic and neurodevelopmental hypotheses. Acta Biochim Pol (2008) 1.02
Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J Biol Chem (2001) 1.00
Abnormal cardiac morphology, function and energy metabolism in the dystrophic mdx mouse: an MRI and MRS study. J Mol Cell Cardiol (2008) 1.00
Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. Mol Ther (2009) 1.00
The role of utrophin in the potential therapy of Duchenne muscular dystrophy. Neuromuscul Disord (2002) 0.99
Interaction between environmental and genetic factors modulates schizophrenic endophenotypes in the Snap-25 mouse mutant blind-drunk. Hum Mol Genet (2009) 0.99
Behavioural characterization of neuregulin 1 type I overexpressing transgenic mice. Neuroreport (2009) 0.99
Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol (2009) 0.99
Gene expression analysis of the embryonic subplate. Cereb Cortex (2011) 0.98
A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet (2008) 0.98
Utrophin up-regulation by an artificial transcription factor in transgenic mice. PLoS One (2007) 0.98
In vivo MRI characterization of progressive cardiac dysfunction in the mdx mouse model of muscular dystrophy. PLoS One (2012) 0.98
Discovery of 2-arylbenzoxazoles as upregulators of utrophin production for the treatment of Duchenne muscular dystrophy. J Med Chem (2011) 0.96
Progress in therapy for Duchenne muscular dystrophy. Exp Physiol (2011) 0.96
Disrupted circadian rhythms in a mouse model of schizophrenia. Curr Biol (2012) 0.96
Expression profiling of mouse subplate reveals a dynamic gene network and disease association with autism and schizophrenia. Proc Natl Acad Sci U S A (2013) 0.95
Safety, tolerability, and pharmacokinetics of SMT C1100, a 2-arylbenzoxazole utrophin modulator, following single- and multiple-dose administration to healthy male adult volunteers. J Clin Pharmacol (2015) 0.95
Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. Hum Mol Genet (2013) 0.93
The allure of stem cell therapy for muscular dystrophy. Neuromuscul Disord (2007) 0.92
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease. Mamm Genome (2007) 0.92
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins. Hum Mol Genet (2003) 0.91
Mediation of Af4 protein function in the cerebellum by Siah proteins. Proc Natl Acad Sci U S A (2004) 0.90