Published in Brain on March 17, 2005
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol (2011) 2.44
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Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain (2009) 1.70
Skin biopsy: a new tool for diagnosing peripheral neuropathy. BMJ (2007) 1.70
Epidermal nerve fibers: confidence intervals and continuous measures with nerve conduction. Neurology (2012) 1.41
Conduction block in PMP22 deficiency. J Neurosci (2010) 1.16
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Non-redundant function of dystroglycan and β1 integrins in radial sorting of axons. Development (2011) 0.93
Analysis of myelinated fibers in human skin biopsies of patients with neuropathies. J Neurol (2012) 0.92
PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain (2009) 0.91
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Nodes of ranvier and paranodes in chronic acquired neuropathies. PLoS One (2011) 0.86
Dietary selenium protects against selected signs of aging and methylmercury exposure. Neurotoxicology (2010) 0.84
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Neuropathy in a human without the PMP22 gene. Arch Neurol (2011) 0.82
Evaluating dermal myelinated nerve fibers in skin biopsy. Muscle Nerve (2012) 0.80
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease. Brain (2012) 0.80
Myelin basic protein-positive nerve fibres in human Meissner corpuscles. J Anat (2009) 0.79
Foot pad skin biopsy in mouse models of hereditary neuropathy. Glia (2010) 0.78
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Evaluation of dermal myelinated nerve fibers in diabetes mellitus. J Peripher Nerv Syst (2013) 0.76
GlcNAc6ST-1 regulates sulfation of N-glycans and myelination in the peripheral nervous system. Sci Rep (2017) 0.75
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Charcot-Marie-Tooth disease: New insights from skin biopsy. Neurology (2015) 0.75
Terahertz Spectroscopic Diagnosis of Myelin Deficit Brain in Mice and Rhesus Monkey with Chemometric Techniques. Sci Rep (2017) 0.75
Caveats in the Established Understanding of CMT1A. Ann Clin Transl Neurol (2017) 0.75
Cost of disorders of the brain in Europe 2010. Eur Neuropsychopharmacol (2011) 4.63
Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol (2011) 4.37
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol (2011) 2.44
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol (2005) 2.32
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet (2002) 2.20
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst (2011) 2.03
Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial. Lancet Neurol (2012) 1.95
Phenotypic clustering in MPZ mutations. Brain (2004) 1.94
Retinoic acid receptors and cancers. Annu Rev Nutr (2004) 1.93
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
Epilepsy surgery outcome in children with tuberous sclerosis complex evaluated with alpha-[11C]methyl-L-tryptophan positron emission tomography (PET). J Child Neurol (2005) 1.82
An orally active TRPV4 channel blocker prevents and resolves pulmonary edema induced by heart failure. Sci Transl Med (2012) 1.74
Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infection. Ann Neurol (2003) 1.72
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain (2009) 1.70
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet (2010) 1.70
Locating sequence on FPC maps and selecting a minimal tiling path. Genome Res (2003) 1.67
Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep (2011) 1.66
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet J Rare Dis (2014) 1.58
Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology (2002) 1.57
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain (2008) 1.55
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med (2011) 1.53
Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression. J Neurosci (2006) 1.52
Genetic testing practices for Charcot-Marie-Tooth type 1A disease. Muscle Nerve (2013) 1.49
Intravenous immunoglobulin expands regulatory T cells via induction of cyclooxygenase-2-dependent prostaglandin E2 in human dendritic cells. Blood (2013) 1.48
Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol (2007) 1.46
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet (2007) 1.42
Elephant brain. Part I: gross morphology, functions, comparative anatomy, and evolution. Brain Res Bull (2006) 1.35
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve (2004) 1.32
Imaging correlates of differential expression of indoleamine 2,3-dioxygenase in human brain tumors. Mol Imaging Biol (2009) 1.30
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol (2002) 1.29
FPC Web tools for rice, maize, and distribution. Plant Physiol (2005) 1.28
In vivo uptake and metabolism of alpha-[11C]methyl-L-tryptophan in human brain tumors. J Cereb Blood Flow Metab (2006) 1.26
Sudden death, febrile seizures, and hippocampal and temporal lobe maldevelopment in toddlers: a new entity. Pediatr Dev Pathol (2010) 1.26
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol (2012) 1.25
Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy. Hum Gene Ther (2002) 1.22
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol (2006) 1.19
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat (2005) 1.18
A case of secondary syphilis presenting as optic neuritis. Neurol Sci (2010) 1.17
Conduction block in PMP22 deficiency. J Neurosci (2010) 1.16
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet (2005) 1.15
Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve (2012) 1.13
Gliosarcoma with multiple extracranial metastases: case report and review of the literature. J Neurooncol (2006) 1.12
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol (2007) 1.11
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet (2006) 1.11
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol (2009) 1.08
Sudden death in toddlers associated with developmental abnormalities of the hippocampus: a report of five cases. Pediatr Dev Pathol (2007) 1.08
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet (2008) 1.06
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
Inherited peripheral neuropathies. Neurol Clin (2013) 1.04
Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol (2006) 1.04
Chronic inhibition of hypoxia-inducible factor prolyl 4-hydroxylase improves ventricular performance, remodeling, and vascularity after myocardial infarction in the rat. J Cardiovasc Pharmacol (2010) 1.04
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain (2012) 1.04
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. Neuropathology (2010) 1.02
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Eur J Neurosci (2011) 1.01
Transforming growth factor-beta stimulates intestinal epithelial focal adhesion kinase synthesis via Smad- and p38-dependent mechanisms. Am J Pathol (2008) 1.00
Recovery and prognosticators of paralysis in West Nile virus infection. J Neurol Sci (2005) 1.00
Infection and inflammation in skeletal muscle from nonhuman primates infected with different genospecies of the Lyme disease spirochete Borrelia burgdorferi. Infect Immun (2003) 0.99
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]. Pharmacol Res (2006) 0.99
Disruption of Krox20-Nab interaction in the mouse leads to peripheral neuropathy with biphasic evolution. J Neurosci (2008) 0.99
Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22. J Cell Sci (2003) 0.98
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. Arch Neurol (2007) 0.98
Genetic testing in neuromuscular disease. Neurol Clin (2004) 0.98
Most primary central nervous system diffuse large B-cell lymphomas occurring in immunocompetent individuals belong to the nongerminal center subtype: a retrospective analysis of 31 cases. Mod Pathol (2009) 0.98
Validation of the Italian version of the Neuropathic Pain Symptom Inventory in peripheral nervous system diseases. Neurol Sci (2009) 0.98
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. J Peripher Nerv Syst (2007) 0.97
Does parkin play a role in the peripheral nervous system? A family report. Mov Disord (2004) 0.97
Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol (2009) 0.97
Sonography of the median nerve in Charcot-Marie-Tooth disease. AJR Am J Roentgenol (2002) 0.97
Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. J Peripher Nerv Syst (2008) 0.97
Immunocytochemical localization of three vesicular glutamate transporters in the cat retina. J Comp Neurol (2004) 0.97
Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. Lung (2007) 0.96