Published in Brain on December 01, 2009
The PMP22 gene and its related diseases. Mol Neurobiol (2012) 1.53
Cutaneous neuropathy in Parkinson's disease: a window into brain pathology. Acta Neuropathol (2014) 1.12
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain (2012) 1.05
Inherited neuropathies: clinical overview and update. Muscle Nerve (2013) 1.05
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain (2012) 1.04
Node of Ranvier disruption as a cause of neurological diseases. ASN Neuro (2013) 1.01
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis (2014) 1.00
Molecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic models. Exp Neurol (2015) 0.94
Neuro-glial interactions at the nodes of Ranvier: implication in health and diseases. Front Cell Neurosci (2013) 0.94
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. Muscle Nerve (2012) 0.93
Analysis of myelinated fibers in human skin biopsies of patients with neuropathies. J Neurol (2012) 0.92
The relationship of nerve fibre pathology to sensory function in entrapment neuropathy. Brain (2014) 0.83
Uses of skin biopsy for sensory and autonomic nerve assessment. Curr Neurol Neurosci Rep (2013) 0.82
Neuropathy in a human without the PMP22 gene. Arch Neurol (2011) 0.82
Chronic inflammatory demyelinating polyradiculoneuropathy: from bench to bedside. Semin Neurol (2012) 0.80
Evaluating dermal myelinated nerve fibers in skin biopsy. Muscle Nerve (2012) 0.80
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. PLoS Genet (2016) 0.80
Nerve conduction velocity in CMT1A: what else can we tell? Eur J Neurol (2016) 0.78
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscul Disord (2015) 0.77
Internodal length variability of dermal myelinated fibres. Brain (2010) 0.76
Evaluation of dermal myelinated nerve fibers in diabetes mellitus. J Peripher Nerv Syst (2013) 0.76
Charcot-Marie-Tooth disease: New insights from skin biopsy. Neurology (2015) 0.75
Acquired neuropathies. J Neurol (2013) 0.75
Caveats in the Established Understanding of CMT1A. Ann Clin Transl Neurol (2017) 0.75
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell (1991) 7.93
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet (1974) 5.80
The clinical features of hereditary motor and sensory neuropathy types I and II. Brain (1980) 4.79
Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology (2005) 3.44
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord (1991) 3.37
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
Histologic and teased-fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin Proc (1968) 2.36
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain (2000) 2.10
Axo-glial interactions regulate the localization of axonal paranodal proteins. J Cell Biol (1999) 1.92
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet (2001) 1.74
Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves. Nature (2004) 1.71
On the molecular architecture of myelinated fibers. Histochem Cell Biol (2000) 1.70
The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies. Neurology (1982) 1.63
The phenotypic manifestations of chromosome 17p11.2 duplication. Brain (1997) 1.63
Potassium channel distribution, clustering, and function in remyelinating rat axons. J Neurosci (1998) 1.62
Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B. Neurology (2006) 1.59
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet (2001) 1.59
Recent progress on the molecular organization of myelinated axons. J Peripher Nerv Syst (2002) 1.55
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain (2008) 1.55
Quantification of myelinated endings and mechanoreceptors in human digital skin. Ann Neurol (2003) 1.44
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain (2005) 1.42
Small-fiber sensory neuropathies: clinical course and neuropathology of idiopathic cases. Ann Neurol (1998) 1.39
Myelinated nerve endings in human skin. Muscle Nerve (2007) 1.30
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol (2006) 1.19
Genetic dysmyelination alters the molecular architecture of the nodal region. J Neurosci (2002) 1.19
Skin biopsy as a tool to assess distal small fiber innervation in diabetic neuropathy. Diabetes Technol Ther (2001) 1.17
A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc Natl Acad Sci U S A (1991) 1.17
Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies. Neurology (1991) 1.13
Axoplasmic organelles at nodes of Ranvier. I. Occurrence and distribution in large myelinated spinal root axons of the adult cat. J Neurocytol (1993) 1.10
Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina. J Neurosci (2006) 1.09
Developmental abnormalities in the nerves of peripheral myelin protein 22-deficient mice. J Neurosci Res (2007) 1.08
Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol (2006) 1.04
Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology (1998) 1.03
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol (1995) 1.00
Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A. J Anat (2002) 1.00
Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology (1989) 0.97
Morphological features of nerves in skin biopsies. J Neurol Sci (2006) 0.95
Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci (1992) 0.95
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. J Peripher Nerv Syst (2008) 0.94
PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain (2009) 0.91
Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A. J Neurosci Res (2002) 0.86
Human nerve pathology caused by different mutational mechanisms of the PMP22 gene. Ann N Y Acad Sci (1999) 0.84
Enhancement of Schwann cell myelin formation by K252a in the Trembler-J mouse dorsal root ganglion explant culture. J Neurosci Res (2005) 0.83
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. Muscle Nerve (1998) 0.80
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76
The genome of the cucumber, Cucumis sativus L. Nat Genet (2009) 8.19
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
The Genomes of Oryza sativa: a history of duplications. PLoS Biol (2005) 7.67
Echinococcosis. Lancet (2003) 6.83
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
A draft sequence for the genome of the domesticated silkworm (Bombyx mori). Science (2004) 6.62
Role of endogenous cannabinoids in synaptic signaling. Physiol Rev (2003) 5.70
Clinical findings in 111 cases of influenza A (H7N9) virus infection. N Engl J Med (2013) 5.38
A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms. Nature (2004) 5.24
Resequencing of 31 wild and cultivated soybean genomes identifies patterns of genetic diversity and selection. Nat Genet (2010) 5.20
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet (2007) 4.93
An Aboriginal Australian genome reveals separate human dispersals into Asia. Science (2011) 4.84
Natural malaria infection in Anopheles gambiae is regulated by a single genomic control region. Science (2006) 4.38
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol (2011) 4.37
Preclinical characterization of the selective JAK1/2 inhibitor INCB018424: therapeutic implications for the treatment of myeloproliferative neoplasms. Blood (2010) 4.33
A critical function for TGF-beta signaling in the development of natural CD4+CD25+Foxp3+ regulatory T cells. Nat Immunol (2008) 4.28
Targeted genome modification of crop plants using a CRISPR-Cas system. Nat Biotechnol (2013) 4.19
KaKs_Calculator: calculating Ka and Ks through model selection and model averaging. Genomics Proteomics Bioinformatics (2006) 4.15
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
[Human natural infection of Plasmodium knowlesi]. Zhongguo Ji Sheng Chong Xue Yu Ji Sheng Chong Bing Za Zhi (2006) 3.99
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
A gate-latch-lock mechanism for hormone signalling by abscisic acid receptors. Nature (2009) 3.63
The role of geography in human adaptation. PLoS Genet (2009) 3.41
Evidence for a common mechanism of SIRT1 regulation by allosteric activators. Science (2013) 3.40
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Inhibition of lipoprotein-associated phospholipase A2 reduces complex coronary atherosclerotic plaque development. Nat Med (2008) 3.33
Randomized phase III trial of induction chemotherapy with docetaxel, cisplatin, and fluorouracil followed by surgery versus up-front surgery in locally advanced resectable oral squamous cell carcinoma. J Clin Oncol (2012) 3.08
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Immediate intraportal transplantation of human bone marrow mesenchymal stem cells prevents death from fulminant hepatic failure in pigs. Hepatology (2012) 3.04
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med (2015) 3.00
Mouse transcriptome: neutral evolution of 'non-coding' complementary DNAs. Nature (2004) 3.00
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science (2010) 2.89
Genome-wide measurement of RNA folding energies. Mol Cell (2012) 2.85
A critical role for TLR4 in the pathogenesis of necrotizing enterocolitis by modulating intestinal injury and repair. J Immunol (2007) 2.77
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Concepts in immunology and diagnosis of hydatid disease. Clin Microbiol Rev (2003) 2.77
IL-22 and IL-22 binding protein (IL-22BP) regulate fibrosis and cirrhosis in hepatitis C virus and schistosome infections. Hepatology (2015) 2.76
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum Mol Genet (2008) 2.71
Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx). Science (2009) 2.68
Brain anatomical network and intelligence. PLoS Comput Biol (2009) 2.68
Surveillance of demographic characteristics and health behaviors among adult cancer survivors--Behavioral Risk Factor Surveillance System, United States, 2009. MMWR Surveill Summ (2012) 2.57
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Effect of agonal and postmortem factors on gene expression profile: quality control in microarray analyses of postmortem human brain. Biol Psychiatry (2004) 2.53
The polycomb group protein Bmi-1 represses the tumor suppressor PTEN and induces epithelial-mesenchymal transition in human nasopharyngeal epithelial cells. J Clin Invest (2009) 2.52
Hop is an unusual homeobox gene that modulates cardiac development. Cell (2002) 2.52
Molecular mimicry regulates ABA signaling by SnRK2 kinases and PP2C phosphatases. Science (2011) 2.52
Gender-specific gene expression in post-mortem human brain: localization to sex chromosomes. Neuropsychopharmacology (2004) 2.48
Basis set exchange: a community database for computational sciences. J Chem Inf Model (2007) 2.37
Inhibition of the catalytic function of activation-induced cytidine deaminase promotes apoptosis of germinal center B cells in BXD2 mice. Arthritis Rheum (2011) 2.33
Subcellular arrangement of molecules for 2-arachidonoyl-glycerol-mediated retrograde signaling and its physiological contribution to synaptic modulation in the striatum. J Neurosci (2007) 2.32
Biliary repair and carcinogenesis are mediated by IL-33-dependent cholangiocyte proliferation. J Clin Invest (2014) 2.31
West Nile virus. Lancet Neurol (2007) 2.26
Parathyroid hormone signaling through low-density lipoprotein-related protein 6. Genes Dev (2008) 2.22
The effect of lidocaine on early postoperative cognitive dysfunction after coronary artery bypass surgery. Anesth Analg (2002) 2.20
Proteomic identification of proteins conjugated to ISG15 in mouse and human cells. Biochem Biophys Res Commun (2005) 2.18
A negative feedback loop of transcription factors that controls stem cell pluripotency and self-renewal. FASEB J (2006) 2.17
Prognostic nomogram for intrahepatic cholangiocarcinoma after partial hepatectomy. J Clin Oncol (2013) 2.16
Association between crystals and cartilage degeneration in the ankle. J Rheumatol (2008) 2.15
Meta-analysis added power to identify variants in FTO associated with type 2 diabetes and obesity in the Asian population. Obesity (Silver Spring) (2010) 2.15
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Motor unit number estimation: a technology and literature review. Muscle Nerve (2014) 2.13
IL-17 promotes tumor development through the induction of tumor promoting microenvironments at tumor sites and myeloid-derived suppressor cells. J Immunol (2010) 2.12
TGF-β induces miR-182 to sustain NF-κB activation in glioma subsets. J Clin Invest (2012) 2.10
Amelioration of type 2 diabetes by antibody-mediated activation of fibroblast growth factor receptor 1. Sci Transl Med (2011) 2.10
High rate of chimeric gene origination by retroposition in plant genomes. Plant Cell (2006) 2.08
Enterocyte TLR4 mediates phagocytosis and translocation of bacteria across the intestinal barrier. J Immunol (2006) 2.06
A novel network of multipolar bursting interneurons generates theta frequency oscillations in neocortex. Neuron (2003) 2.05
IgT, a primitive immunoglobulin class specialized in mucosal immunity. Nat Immunol (2010) 2.03
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst (2011) 2.03
Arsenic and fluoride exposure in drinking water: children's IQ and growth in Shanyin county, Shanxi province, China. Environ Health Perspect (2007) 2.03
Early millet use in northern China. Proc Natl Acad Sci U S A (2012) 2.01
Characterizing the admixed African ancestry of African Americans. Genome Biol (2009) 2.01
Growth of epitaxial nanowires at the junctions of nanowalls. Science (2003) 1.99
Single-atom catalysis of CO oxidation using Pt1/FeOx. Nat Chem (2011) 1.98
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.96
IKKalpha, IKKbeta, and NEMO/IKKgamma are each required for the NF-kappa B-mediated inflammatory response program. J Biol Chem (2002) 1.94
Phenotypic clustering in MPZ mutations. Brain (2004) 1.94
Genomic analysis of the immune gene repertoire of amphioxus reveals extraordinary innate complexity and diversity. Genome Res (2008) 1.92
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol (2013) 1.90
The White test: a new dye test for intraoperative detection of bile leakage during major liver resection. Arch Surg (2008) 1.86
Isolated coronary artery bypass graft combined with bone marrow mononuclear cells delivered through a graft vessel for patients with previous myocardial infarction and chronic heart failure: a single-center, randomized, double-blind, placebo-controlled clinical trial. J Am Coll Cardiol (2011) 1.85
Overexpression of astrocyte elevated gene-1 (AEG-1) is associated with esophageal squamous cell carcinoma (ESCC) progression and pathogenesis. Carcinogenesis (2009) 1.85
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Molecular engineering of DNA: molecular beacons. Angew Chem Int Ed Engl (2009) 1.84
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Identification and mechanism of ABA receptor antagonism. Nat Struct Mol Biol (2010) 1.83
Sam68 up-regulation correlates with, and its down-regulation inhibits, proliferation and tumourigenicity of breast cancer cells. J Pathol (2010) 1.82
Structural basis of constitutive activity and a unique nucleotide binding mode of human Pim-1 kinase. J Biol Chem (2004) 1.80
Lessons in molecular recognition: the effects of ligand and protein flexibility on molecular docking accuracy. J Med Chem (2004) 1.79
Control of the differentiation of regulatory T cells and T(H)17 cells by the DNA-binding inhibitor Id3. Nat Immunol (2010) 1.77
Complete genome sequence of Paenibacillus polymyxa SC2, a strain of plant growth-promoting Rhizobacterium with broad-spectrum antimicrobial activity. J Bacteriol (2010) 1.76
The effects of cardiopulmonary bypass on the number of cerebral microemboli and the incidence of cognitive dysfunction after coronary artery bypass graft surgery. Anesth Analg (2009) 1.74
Environment. Building a "green" railway in China. Science (2007) 1.73
Centrobin: a novel daughter centriole-associated protein that is required for centriole duplication. J Cell Biol (2005) 1.73