Published in Nat Biotechnol on August 10, 2011
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron (2013) 3.63
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurol (2013) 2.43
Transfer of mitochondria from astrocytes to neurons after stroke. Nature (2016) 2.27
A small molecule screen in stem-cell-derived motor neurons identifies a kinase inhibitor as a candidate therapeutic for ALS. Cell Stem Cell (2013) 2.14
The seeds of neurodegeneration: prion-like spreading in ALS. Cell (2011) 2.03
Macrophage migration inhibitory factor as a chaperone inhibiting accumulation of misfolded SOD1. Neuron (2015) 1.57
Necroptosis drives motor neuron death in models of both sporadic and familial ALS. Neuron (2014) 1.56
Major histocompatibility complex class I molecules protect motor neurons from astrocyte-induced toxicity in amyotrophic lateral sclerosis. Nat Med (2016) 1.52
Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis. JAMA Neurol (2015) 1.51
Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy. Proc Natl Acad Sci U S A (2013) 1.49
Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathways. J Exp Med (2011) 1.46
An over-oxidized form of superoxide dismutase found in sporadic amyotrophic lateral sclerosis with bulbar onset shares a toxic mechanism with mutant SOD1. Proc Natl Acad Sci U S A (2012) 1.45
Microglia induce motor neuron death via the classical NF-κB pathway in amyotrophic lateral sclerosis. Neuron (2014) 1.44
Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proc Natl Acad Sci U S A (2013) 1.44
Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models. Nat Chem Biol (2014) 1.43
Therapeutic AAV9-mediated suppression of mutant SOD1 slows disease progression and extends survival in models of inherited ALS. Mol Ther (2013) 1.36
Emerging mechanisms of molecular pathology in ALS. J Clin Invest (2015) 1.32
Exosomes: vesicular carriers for intercellular communication in neurodegenerative disorders. Cell Tissue Res (2012) 1.31
Human pluripotent stem cells: applications and challenges in neurological diseases. Front Physiol (2012) 1.31
Intercellular (mis)communication in neurodegenerative disease. Neuron (2012) 1.31
Immune-mediated mechanisms in the pathoprogression of amyotrophic lateral sclerosis. J Neuroimmune Pharmacol (2013) 1.23
Aging brain microenvironment decreases hippocampal neurogenesis through Wnt-mediated survivin signaling. Aging Cell (2012) 1.22
MicroRNA-128 coordinately targets Polycomb Repressor Complexes in glioma stem cells. Neuro Oncol (2013) 1.20
Blood-spinal cord barrier breakdown and pericyte reductions in amyotrophic lateral sclerosis. Acta Neuropathol (2012) 1.19
Phenotypically aberrant astrocytes that promote motoneuron damage in a model of inherited amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2011) 1.19
Can regional spreading of amyotrophic lateral sclerosis motor symptoms be explained by prion-like propagation? J Neurol Neurosurg Psychiatry (2012) 1.19
Role of astroglia in Down's syndrome revealed by patient-derived human-induced pluripotent stem cells. Nat Commun (2014) 1.18
Decoding ALS: from genes to mechanism. Nature (2016) 1.18
Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 1.16
An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis. Front Cell Neurosci (2013) 1.15
Blood-spinal cord barrier disruption contributes to early motor-neuron degeneration in ALS-model mice. Proc Natl Acad Sci U S A (2014) 1.14
Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights. J Neurol Neurosurg Psychiatry (2012) 1.14
Superoxide dismutases and superoxide reductases. Chem Rev (2014) 1.12
Glial cells in amyotrophic lateral sclerosis. Exp Neurol (2014) 1.11
Human induced pluripotent stem cells are a novel source of neural progenitor cells (iNPCs) that migrate and integrate in the rodent spinal cord. J Comp Neurol (2014) 1.09
Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2014) 1.08
Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One (2012) 1.03
Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis. Free Radic Biol Med (2013) 1.03
Direct intraventricular delivery of drugs to the rodent central nervous system. J Vis Exp (2013) 1.01
SOD1 in cerebral spinal fluid as a pharmacodynamic marker for antisense oligonucleotide therapy. JAMA Neurol (2013) 1.01
Microglia centered pathogenesis in ALS: insights in cell interconnectivity. Front Cell Neurosci (2014) 1.00
Nitric oxide-mediated oxidative damage and the progressive demise of motor neurons in ALS. Neurotox Res (2012) 1.00
Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis. Cell Mol Life Sci (2013) 1.00
Sigma-1R agonist improves motor function and motoneuron survival in ALS mice. Neurotherapeutics (2012) 0.98
An enhanced integrated stress response ameliorates mutant SOD1-induced ALS. Hum Mol Genet (2013) 0.98
Human stem cell-derived spinal cord astrocytes with defined mature or reactive phenotypes. Cell Rep (2013) 0.98
Mutant SOD1-expressing astrocytes release toxic factors that trigger motoneuron death by inducing hyperexcitability. J Neurophysiol (2013) 0.98
Intricate interplay between astrocytes and motor neurons in ALS. Proc Natl Acad Sci U S A (2013) 0.97
Metabolic signatures of amyotrophic lateral sclerosis reveal insights into disease pathogenesis. Proc Natl Acad Sci U S A (2013) 0.97
Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells. Nat Commun (2015) 0.97
Delayed disease onset and extended survival in the SOD1G93A rat model of amyotrophic lateral sclerosis after suppression of mutant SOD1 in the motor cortex. J Neurosci (2014) 0.95
SOD1, an unexpected novel target for cancer therapy. Genes Cancer (2014) 0.95
Elusive roles for reactive astrocytes in neurodegenerative diseases. Front Cell Neurosci (2015) 0.95
Molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm. Proc Natl Acad Sci U S A (2013) 0.94
Guanabenz, which enhances the unfolded protein response, ameliorates mutant SOD1-induced amyotrophic lateral sclerosis. Neurobiol Dis (2014) 0.93
Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS. Proc Natl Acad Sci U S A (2015) 0.93
Early pathogenesis in the adult-onset neurodegenerative disease amyotrophic lateral sclerosis. J Cell Biochem (2012) 0.92
Amyotrophic lateral sclerosis: update and new developments. Degener Neurol Neuromuscul Dis (2012) 0.91
Phenotypic transition of microglia into astrocyte-like cells associated with disease onset in a model of inherited ALS. Front Cell Neurosci (2013) 0.91
Direct Lineage Reprogramming Reveals Disease-Specific Phenotypes of Motor Neurons from Human ALS Patients. Cell Rep (2015) 0.90
Astrocytes conspire with neurons during progression of neurological disease. Curr Opin Neurobiol (2012) 0.90
A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol (2015) 0.90
Focal transplantation of human iPSC-derived glial-rich neural progenitors improves lifespan of ALS mice. Stem Cell Reports (2014) 0.90
Resveratrol improves motoneuron function and extends survival in SOD1(G93A) ALS mice. Neurotherapeutics (2014) 0.89
Disease modeling and drug screening for neurological diseases using human induced pluripotent stem cells. Acta Pharmacol Sin (2013) 0.89
Neuroinflammation in motor neuron disease. Nagoya J Med Sci (2015) 0.89
p53 isoforms regulate astrocyte-mediated neuroprotection and neurodegeneration. Cell Death Differ (2016) 0.88
Therapeutic neuroprotective agents for amyotrophic lateral sclerosis. Cell Mol Life Sci (2013) 0.88
Therapeutic applications of mesenchymal stem cells for amyotrophic lateral sclerosis. Stem Cell Res Ther (2014) 0.88
Prion-like Mechanism in Amyotrophic Lateral Sclerosis: are Protein Aggregates the Key? Exp Neurobiol (2014) 0.88
Abnormal intracellular calcium signaling and SNARE-dependent exocytosis contributes to SOD1G93A astrocyte-mediated toxicity in amyotrophic lateral sclerosis. J Neurosci (2014) 0.86
Human-derived neural progenitors functionally replace astrocytes in adult mice. J Clin Invest (2015) 0.86
Exosomes as a Nanodelivery System: a Key to the Future of Neuromedicine? Mol Neurobiol (2014) 0.86
The established and emerging roles of astrocytes and microglia in amyotrophic lateral sclerosis and frontotemporal dementia. Front Cell Neurosci (2015) 0.86
Adeno-associated virus-mediated delivery of a recombinant single-chain antibody against misfolded superoxide dismutase for treatment of amyotrophic lateral sclerosis. Mol Ther (2013) 0.85
Pathological roles of wild-type cu, zn-superoxide dismutase in amyotrophic lateral sclerosis. Neurol Res Int (2012) 0.85
The multifaceted role of glial cells in amyotrophic lateral sclerosis. Cell Mol Life Sci (2013) 0.85
Intraspinal bone-marrow cell therapy at pre- and symptomatic phases in a mouse model of amyotrophic lateral sclerosis. Stem Cell Res Ther (2016) 0.85
Molecular Mechanisms in Amyotrophic Lateral Sclerosis: The Role of Angiogenin, a Secreted RNase. Front Neurosci (2012) 0.84
An Engraftable Human Embryonic Stem Cell Neuronal Lineage-Specific Derivative Retains Embryonic Chromatin Plasticity for Scale-Up CNS Regeneration. J Regen Med Tissue Eng (2012) 0.84
Focus on Extracellular Vesicles: Physiological Role and Signalling Properties of Extracellular Membrane Vesicles. Int J Mol Sci (2016) 0.84
Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions. Neuropathol Appl Neurobiol (2015) 0.84
Palmitoylation of superoxide dismutase 1 (SOD1) is increased for familial amyotrophic lateral sclerosis-linked SOD1 mutants. J Biol Chem (2013) 0.84
Induced pluripotent stem cells from ALS patients for disease modeling. Brain Res (2014) 0.84
Death receptor 6 (DR6) antagonist antibody is neuroprotective in the mouse SOD1G93A model of amyotrophic lateral sclerosis. Cell Death Dis (2013) 0.84
Motor neuron death in ALS: programmed by astrocytes? Neuron (2014) 0.83
Genome-Scale Mapping of MicroRNA Signatures in Human Embryonic Stem Cell Neurogenesis. Mol Med Ther (2012) 0.82
Neuroprotective Effect of Bexarotene in the SOD1(G93A) Mouse Model of Amyotrophic Lateral Sclerosis. Front Cell Neurosci (2015) 0.82
Protein misdirection inside and outside motor neurons in Amyotrophic Lateral Sclerosis (ALS): a possible clue for therapeutic strategies. Int J Mol Sci (2011) 0.82
An α2-Na/K ATPase/α-adducin complex in astrocytes triggers non-cell autonomous neurodegeneration. Nat Neurosci (2014) 0.82
Regenerative cellular therapies for neurologic diseases. Brain Res (2015) 0.82
The potential of induced pluripotent stem cells as a translational model for neurotoxicological risk. Neurotoxicology (2012) 0.82
Pathophysiological and diagnostic implications of cortical dysfunction in ALS. Nat Rev Neurol (2016) 0.82
Hu antigen R (HuR) is a positive regulator of the RNA-binding proteins TDP-43 and FUS/TLS: implications for amyotrophic lateral sclerosis. J Biol Chem (2014) 0.81
Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2015) 0.81
Different human copper-zinc superoxide dismutase mutants, SOD1G93A and SOD1H46R, exert distinct harmful effects on gross phenotype in mice. PLoS One (2012) 0.81
Chiral cyclohexane 1,3-diones as inhibitors of mutant SOD1-dependent protein aggregation for the treatment of ALS. ACS Med Chem Lett (2012) 0.81
Glia: an emerging target for neurological disease therapy. Stem Cell Res Ther (2012) 0.81
"Targeting astrocytes in CNS injury and disease: A translational research approach". Prog Neurobiol (2016) 0.81
A transcriptome database for astrocytes, neurons, and oligodendrocytes: a new resource for understanding brain development and function. J Neurosci (2008) 17.27
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science (2008) 14.26
Directed differentiation of embryonic stem cells into motor neurons. Cell (2002) 9.76
Onset and progression in inherited ALS determined by motor neurons and microglia. Science (2006) 9.42
ALS: a disease of motor neurons and their nonneuronal neighbors. Neuron (2006) 7.82
Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons. Nat Neurosci (2007) 7.77
Mechanisms underlying inflammation in neurodegeneration. Cell (2010) 7.66
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol (2008) 6.82
Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice. Science (2003) 6.35
Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model. Nat Neurosci (2007) 6.08
Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis. Nat Neurosci (2008) 5.89
Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J Cell Biol (2009) 5.65
A functionally characterized test set of human induced pluripotent stem cells. Nat Biotechnol (2011) 4.95
Wild-type microglia extend survival in PU.1 knockout mice with familial amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2006) 4.52
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat Neurosci (2010) 4.25
Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation. Cell Stem Cell (2008) 3.97
Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells. Cell Stem Cell (2008) 3.34
Focal transplantation-based astrocyte replacement is neuroprotective in a model of motor neuron disease. Nat Neurosci (2008) 2.67
Cell culture. Progenitor cells from human brain after death. Nature (2001) 2.63
Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2007) 2.25
Differential properties of adult rat and mouse brain-derived neural stem/progenitor cells. Mol Cell Neurosci (2006) 1.99
Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes. Mol Ther (2011) 1.85
Toxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons. Proc Natl Acad Sci U S A (2007) 1.79
Delivery of AAV-IGF-1 to the CNS extends survival in ALS mice through modification of aberrant glial cell activity. Mol Ther (2008) 1.57
Virus-delivered small RNA silencing sustains strength in amyotrophic lateral sclerosis. Ann Neurol (2005) 1.44
AAV4-mediated expression of IGF-1 and VEGF within cellular components of the ventricular system improves survival outcome in familial ALS mice. Mol Ther (2010) 1.22
Amyotrophic lateral sclerosis. Insights from genetics. Arch Neurol (1997) 1.19
Activation of interferon signaling pathways in spinal cord astrocytes from an ALS mouse model. Glia (2011) 1.02
Inter- and intracellular signaling in amyotrophic lateral sclerosis: role of p38 mitogen-activated protein kinase. Neurodegener Dis (2005) 0.96
Proteins that bind to misfolded mutant superoxide dismutase-1 in spinal cords from transgenic amyotrophic lateral sclerosis (ALS) model mice. J Biol Chem (2011) 0.94
Therapeutic microRNA delivery suppresses tumorigenesis in a murine liver cancer model. Cell (2009) 11.10
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol (2008) 6.82
SMNDelta7, 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. Hum Mol Genet (2005) 5.23
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol (2010) 4.62
Directed evolution of adeno-associated virus yields enhanced gene delivery vectors. Nat Biotechnol (2006) 4.12
Sonic hedgehog regulates adult neural progenitor proliferation in vitro and in vivo. Nat Neurosci (2003) 3.98
A role for glia in the progression of Rett's syndrome. Nature (2011) 3.18
Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liver. J Clin Invest (2012) 3.14
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol (2003) 2.94
Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia. Cancer Cell (2005) 2.73
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One (2007) 2.70
Adeno-associated virus serotype 9 transduction in the central nervous system of nonhuman primates. Hum Gene Ther (2012) 2.42
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35
Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors. Proc Natl Acad Sci U S A (2008) 2.31
Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol (2003) 2.28
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med (2002) 2.26
Follistatin gene delivery enhances muscle growth and strength in nonhuman primates. Sci Transl Med (2009) 2.21
Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther (2011) 2.20
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci (2006) 2.11
Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis (2007) 2.10
Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet (2003) 2.07
IGF-I instructs multipotent adult neural progenitor cells to become oligodendrocytes. J Cell Biol (2004) 2.02
Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell (2002) 2.01
Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2006) 1.97
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet (2010) 1.89
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy. J Transl Med (2007) 1.86
Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes. Mol Ther (2011) 1.85
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol (2010) 1.81
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circ Cardiovasc Genet (2009) 1.80
Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet (2008) 1.79
The adult substantia nigra contains progenitor cells with neurogenic potential. J Neurosci (2002) 1.78
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol (2003) 1.75
Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest (2004) 1.73
vanishing tassel2 encodes a grass-specific tryptophan aminotransferase required for vegetative and reproductive development in maize. Plant Cell (2011) 1.71
A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet (2009) 1.70
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol (2013) 1.63
Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol (2006) 1.59
Delivery of AAV-IGF-1 to the CNS extends survival in ALS mice through modification of aberrant glial cell activity. Mol Ther (2008) 1.57
Recombinant adeno-associated viral vectors as therapeutic agents to treat neurological disorders. Mol Ther (2006) 1.54
Nigrostriatal rAAV-mediated GDNF overexpression induces robust weight loss in a rat model of age-related obesity. Mol Ther (2009) 1.52
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet (2009) 1.46
Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet (2011) 1.44
Virus-delivered small RNA silencing sustains strength in amyotrophic lateral sclerosis. Ann Neurol (2005) 1.44
Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proc Natl Acad Sci U S A (2013) 1.44
Directed evolution of adeno-associated virus to an infectious respiratory virus. Proc Natl Acad Sci U S A (2009) 1.42
Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing. J Biomol Tech (2012) 1.40
A conditional deletion of the NR1 subunit of the NMDA receptor in adult spinal cord dorsal horn reduces NMDA currents and injury-induced pain. J Neurosci (2003) 1.38
Therapeutic AAV9-mediated suppression of mutant SOD1 slows disease progression and extends survival in models of inherited ALS. Mol Ther (2013) 1.36
A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease. Dis Model Mech (2010) 1.36
Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery. Mol Ther (2009) 1.35
Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease. Muscle Nerve (2009) 1.34
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas (2006) 1.34
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet (2007) 1.33
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat (2007) 1.31
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet (2009) 1.31
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res (2005) 1.29
Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J Neurosci (2013) 1.26
Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord (2010) 1.24
Aging brain microenvironment decreases hippocampal neurogenesis through Wnt-mediated survivin signaling. Aging Cell (2012) 1.22
AAV4-mediated expression of IGF-1 and VEGF within cellular components of the ventricular system improves survival outcome in familial ALS mice. Mol Ther (2010) 1.22
Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence. Mol Ther (2007) 1.19
Molecular characterization of patient-derived human pancreatic tumor xenograft models for preclinical and translational development of cancer therapeutics. Neoplasia (2013) 1.17