PubRank

Kay E Davies

Author PubWeight™ 120.90‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A functional genetic link between distinct developmental language disorders. N Engl J Med 2008 4.99
2 Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002 4.80
3 The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling. Hum Mol Genet 2006 3.39
4 Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 2007 3.06
5 Pharmacological strategies for muscular dystrophy. Nat Rev Drug Discov 2003 2.32
6 Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes. Genome Biol 2010 2.20
7 Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther 2011 2.06
8 Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. Nature 2012 2.04
9 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
10 Functional genetic analysis of mutations implicated in a human speech and language disorder. Hum Mol Genet 2006 1.85
11 Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet 2003 1.85
12 Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 2009 1.76
13 Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nat Rev Genet 2013 1.70
14 Novel markers reveal subpopulations of subplate neurons in the murine cerebral cortex. Cereb Cortex 2008 1.67
15 Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep 2004 1.66
16 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
17 Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet 2011 1.56
18 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
19 Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol 2007 1.39
20 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
21 Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol Ther 2009 1.31
22 Therapeutic approaches to muscular dystrophy. Hum Mol Genet 2011 1.30
23 Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One 2011 1.29
24 A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. J Neurosci 2003 1.29
25 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
26 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
27 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
28 Diaphragm rescue alone prevents heart dysfunction in dystrophic mice. Hum Mol Genet 2010 1.19
29 Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther 2013 1.16
30 Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J Cell Sci 2010 1.14
31 Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. PLoS Genet 2011 1.13
32 ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan. Hum Mol Genet 2004 1.12
33 Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping. Hum Mol Genet 2012 1.10
34 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
35 The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet 2015 1.08
36 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
37 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
38 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 2011 1.08
39 Muscular dystrophy--reason for optimism? Cell 2002 1.07
40 Dystrophin- and MLP-deficient mouse hearts: marked differences in morphology and function, but similar accumulation of cytoskeletal proteins. FASEB J 2004 1.07
41 A- and B-utrophin have different expression patterns and are differentially up-regulated in mdx muscle. J Biol Chem 2002 1.07
42 Generation and characterization of transgenic mice with the full-length human DMD gene. J Biol Chem 2007 1.07
43 The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain 2004 1.06
44 Evaluating the links between schizophrenia and sleep and circadian rhythm disruption. J Neural Transm (Vienna) 2012 1.05
45 A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration. Neuromuscul Disord 2004 1.05
46 AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy. Mol Ther 2013 1.03
47 Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 2009 1.02
48 SNARE proteins and schizophrenia: linking synaptic and neurodevelopmental hypotheses. Acta Biochim Pol 2008 1.02
49 Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. Mol Ther 2009 1.00
50 Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J Biol Chem 2001 1.00
51 Abnormal cardiac morphology, function and energy metabolism in the dystrophic mdx mouse: an MRI and MRS study. J Mol Cell Cardiol 2008 1.00
52 The role of utrophin in the potential therapy of Duchenne muscular dystrophy. Neuromuscul Disord 2002 0.99
53 Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol 2009 0.99
54 Interaction between environmental and genetic factors modulates schizophrenic endophenotypes in the Snap-25 mouse mutant blind-drunk. Hum Mol Genet 2009 0.99
55 Utrophin up-regulation by an artificial transcription factor in transgenic mice. PLoS One 2007 0.98
56 A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet 2008 0.98
57 In vivo MRI characterization of progressive cardiac dysfunction in the mdx mouse model of muscular dystrophy. PLoS One 2012 0.98
58 Discovery of 2-arylbenzoxazoles as upregulators of utrophin production for the treatment of Duchenne muscular dystrophy. J Med Chem 2011 0.96
59 Progress in therapy for Duchenne muscular dystrophy. Exp Physiol 2011 0.96
60 Disrupted circadian rhythms in a mouse model of schizophrenia. Curr Biol 2012 0.96
61 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
62 Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. Hum Mol Genet 2013 0.93
63 Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease. Mamm Genome 2007 0.92
64 The allure of stem cell therapy for muscular dystrophy. Neuromuscul Disord 2007 0.92
65 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
66 Mediation of Af4 protein function in the cerebellum by Siah proteins. Proc Natl Acad Sci U S A 2004 0.90
67 Analysis of human neurological disorders using mutagenesis in the mouse. Clin Sci (Lond) 2005 0.89
68 A combined metabolomic and proteomic investigation of the effects of a failure to express dystrophin in the mouse heart. J Proteome Res 2008 0.88
69 Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice. Hum Mol Genet 2009 0.88
70 Engineering multiple U7snRNA constructs to induce single and multiexon-skipping for Duchenne muscular dystrophy. Mol Ther 2012 0.88
71 Behavioural characterisation of the robotic mouse mutant. Behav Brain Res 2007 0.87
72 The robotic mouse: understanding the role of AF4, a cofactor of transcriptional elongation and chromatin remodelling, in purkinje cell function. Cerebellum 2009 0.86
73 Intermediate filament-like protein syncoilin in normal and myopathic striated muscle. Neuromuscul Disord 2007 0.86
74 Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy. Curr Gene Ther 2012 0.86
75 Isolation and culture of motor neurons from the newborn mouse spinal cord. Brain Res Brain Res Protoc 2004 0.86
76 Syncoilin upregulation in muscle of patients with neuromuscular disease. Muscle Nerve 2005 0.85
77 Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum 2011 0.85
78 AF4 is a critical regulator of the IGF-1 signaling pathway during Purkinje cell development. J Neurosci 2009 0.85
79 Microarray analysis of mdx mice expressing high levels of utrophin: therapeutic implications for dystrophin deficiency. Neuromuscul Disord 2008 0.84
80 Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression. PLoS One 2011 0.84
81 Is good housekeeping the key to motor neuron survival? Cell 2008 0.83
82 Gene expression profiling studies on Caenorhabditis elegans dystrophin mutants dys-1(cx-35) and dys-1(cx18). Genomics 2006 0.82
83 Challenges to oligonucleotides-based therapeutics for Duchenne muscular dystrophy. Skelet Muscle 2011 0.82
84 Syncoilin isoform organization and differential expression in murine striated muscle. J Struct Biol 2008 0.81
85 Muscular dystrophies related to the cytoskeleton/nuclear envelope. Novartis Found Symp 2005 0.81
86 Analysis of skeletal muscle function in the C57BL6/SV129 syncoilin knockout mouse. Mamm Genome 2008 0.80
87 The role of intermediate filament proteins in the development of neurological disease. Crit Rev Neurobiol 2007 0.80
88 Syncoilin modulates peripherin filament networks and is necessary for large-calibre motor neurons. J Cell Sci 2010 0.80
89 New insights into behaviour using mouse ENU mutagenesis. Hum Mol Genet 2012 0.80
90 Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Mol Cell Neurosci 2002 0.80
91 Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit. Neuromuscul Disord 2004 0.79
92 Syncoilin accumulation in two patients with desmin-related myopathy. Neuromuscul Disord 2003 0.78
93 Preconditioning of Cardiosphere-Derived Cells With Hypoxia or Prolyl-4-Hydroxylase Inhibitors Increases Stemness and Decreases Reliance on Oxidative Metabolism. Cell Transplant 2015 0.78
94 Spinal muscular atrophy at the crossroads of basic science and therapy. Neuromuscul Disord 2012 0.78
95 Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. Biochem Biophys Res Commun 2008 0.78
96 Ets, Ap-1 and GATA factor families regulate the utrophin B promoter: potential regulatory mechanisms for endothelial-specific expression. FEBS Lett 2003 0.77
97 Engineering exon-skipping vectors expressing U7 snRNA constructs for Duchenne muscular dystrophy gene therapy. Methods Mol Biol 2011 0.76
98 A new way to regulate the NMJ. Nat Med 2007 0.76
99 MLP accumulation and remodelling in the infarcted rat heart. Eur J Heart Fail 2005 0.76
100 Cardiac α-actin over-expression therapy in dominant ACTA1 disease. Hum Mol Genet 2013 0.76
101 The Cellular Processing Capacity Limits the Amounts of Chimeric U7 snRNA Available for Antisense Delivery. Mol Ther Nucleic Acids 2012 0.75
102 Chapter 7 Spinal muscular atrophies and hereditary motor neuropathies. Handb Clin Neurol 2007 0.75
103 A new editor to mark another era in genetics. Hum Mol Genet 2008 0.75