Published in J Neurol Neurosurg Psychiatry on May 23, 2013
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis (2014) 1.00
Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. ASN Neuro (2014) 0.80
The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management. Appl Clin Genet (2015) 0.78
Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. J Neurol (2015) 0.77
Sleep pattern in Charcot-Marie-Tooth disease type 2: report of family case series. J Clin Sleep Med (2015) 0.76
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? Brain Behav (2016) 0.76
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc (2016) 0.75
Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist. Front Neurol (2014) 0.75
Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-tooth disease type 1: important associations. J Neurol Neurosurg Psychiatry (2013) 0.75
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet (2005) 1.68
A novel method for growing human breast epithelium in vivo using mouse and human mammary fibroblasts. Endocrinology (2002) 1.48
Chlorhexidine to maintain cleanliness of laryngoscope handles: an audit and laboratory study. Eur J Anaesthesiol (2013) 1.46
Report of a novel mutation in the PMP22 gene causing an axonal neuropathy. Muscle Nerve (2011) 1.40
Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenetics (2002) 1.17
The protooncogene Ski controls Schwann cell proliferation and myelination. Neuron (2004) 1.13
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics (2009) 1.10
Loss of expression of chromosome 16q genes DPEP1 and CTCF in lobular carcinoma in situ of the breast. Breast Cancer Res Treat (2008) 1.07
Painless legs and moving toes in a mother and her daughter. Mov Disord (2003) 1.06
An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet (2005) 1.06
Treatment for obstructive sleep apnoea: effect on peripheral nerve function. J Neurol Neurosurg Psychiatry (2006) 1.05
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet (2007) 1.02
Atherosclerosis and obstructive sleep apnea in patients with ischemic stroke. Cerebrovasc Dis (2007) 0.99
Cell cycle inhibitors p21 and p16 are required for the regulation of Schwann cell proliferation. Glia (2006) 0.99
Control of the RNA polymerase II phosphorylation state in promoter regions by CTD interaction domain-containing proteins RPRD1A and RPRD1B. Transcription (2012) 0.99
Monocyte chemoattractant protein-1-deficiency impairs the expression of IL-6, IL-1β and G-CSF after transient focal ischemia in mice. PLoS One (2011) 0.95
Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey. J Neurol (2009) 0.95
Intensive care unit tracheostomy: a snapshot of UK practice. Int Arch Med (2008) 0.95
Inhibition of N-cadherin and beta-catenin function reduces axon-induced Schwann cell proliferation. J Neurosci Res (2008) 0.95
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population. Neuromuscul Disord (2013) 0.94
Positional sleep apnea in patients with ischemic stroke. Neurol Res (2008) 0.94
The glycotope-specific RAV12 monoclonal antibody induces oncosis in vitro and has antitumor activity against gastrointestinal adenocarcinoma tumor xenografts in vivo. Mol Cancer Ther (2007) 0.93
A tighter bound for the echo state property. IEEE Trans Neural Netw (2006) 0.93
The activation function-1 domain of estrogen receptor alpha in uterine stromal cells is required for mouse but not human uterine epithelial response to estrogen. Differentiation (2005) 0.92
Capnography screening for sleep apnea in patients with acute stroke. Neurol Res (2005) 0.92
Early microstructural white matter changes in patients with HIV: a diffusion tensor imaging study. BMC Neurol (2012) 0.91
Stress-induced allodynia--evidence of increased pain sensitivity in healthy humans and patients with chronic pain after experimentally induced psychosocial stress. PLoS One (2013) 0.90
Continuous positive airway pressure ventilation for acute ischemic stroke: a randomized feasibility study. Stroke (2011) 0.90
A case of triploidy. Fertil Steril (2005) 0.89
Clinical features and molecular genetics of hereditary peripheral neuropathies. J Neurol (2002) 0.88
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis (2014) 0.88
The E3-ubiquitin ligase TRIM2 regulates neuronal polarization. J Neurochem (2010) 0.87
Postnatal Schwann cell proliferation but not myelination is strictly and uniquely dependent on cyclin-dependent kinase 4 (cdk4). Mol Cell Neurosci (2007) 0.87
Brainstem involvement as a cause of central sleep apnea: pattern of microstructural cerebral damage in patients with cerebral microangiopathy. PLoS One (2013) 0.87
Sodium-dependent vitamin C transporter 2 (SVCT2) is necessary for the uptake of L-ascorbic acid into Schwann cells. Glia (2010) 0.87
A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. Mov Disord (2010) 0.87
Sodium-dependent vitamin C transporter 2 (SVCT2) expression and activity in brain capillary endothelial cells after transient ischemia in mice. PLoS One (2011) 0.86
Increased prevalence of sleep apnea in patients with recurring ischemic stroke compared with first stroke victims. J Neurol (2005) 0.86
Men who have sex with men in Mozambique: identifying a hidden population at high-risk for HIV. AIDS Behav (2015) 0.86
Establishment of human ovarian serous carcinomas cell lines in serum free media. Methods (2012) 0.85
Sodium-dependent vitamin C transporter 2 deficiency causes hypomyelination and extracellular matrix defects in the peripheral nervous system. J Neurosci (2011) 0.85
A change in humidification system can eliminate endotracheal tube occlusion. J Crit Care (2011) 0.85
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease. Cochrane Database Syst Rev (2015) 0.84
AFM combines functional and morphological analysis of peripheral myelinated and demyelinated nerve fibers. Neuroimage (2007) 0.83
Pregabalin-associated acute psychosis and epileptiform EEG-changes. Seizure (2006) 0.83
Specific pattern of early white-matter changes in pure hereditary spastic paraplegia. Mov Disord (2010) 0.83
The expression of ERalpha, ERbeta and PR in lobular carcinoma in situ of the breast determined using laser microdissection and real-time PCR. Histopathology (2009) 0.83
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease. Brain (2014) 0.83
Monocyte chemoattractant protein-1-deficiency results in altered blood-brain barrier breakdown after experimental stroke. Stroke (2013) 0.82
Evolution of primary HIV drug resistance in a subtype C dominated epidemic in Mozambique. PLoS One (2013) 0.82
Bex1 is involved in the regeneration of axons after injury. J Neurochem (2010) 0.82
Paramedic laryngoscopy in the simulated difficult airway: comparison of the Venner A.P. Advance and GlideScope Ranger video laryngoscopes. Acad Emerg Med (2011) 0.82
Biomarkers of inflammation and endothelial dysfunction in stroke with and without sleep apnea. Cerebrovasc Dis (2012) 0.82
CRA-026440: a potent, broad-spectrum, hydroxamic histone deacetylase inhibitor with antiproliferative and antiangiogenic activity in vitro and in vivo. Mol Cancer Ther (2006) 0.81
Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease. Case Rep Neurol (2009) 0.81
Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage. J Neurochem (2009) 0.81
Enhanced rapid-onset cortical plasticity in CADASIL as a possible mechanism of preserved cognition. Cereb Cortex (2011) 0.80
Dysphagia in X-linked bulbospinal muscular atrophy (Kennedy disease). Neuromuscul Disord (2009) 0.80
Sensorimotor cortical activation in patients with sleep bruxism. J Sleep Res (2012) 0.79
Modafinil in the treatment of idiopathic hypersomnia without long sleep time--a randomized, double-blind, placebo-controlled study. J Sleep Res (2014) 0.78
Suppression of dedifferentiation and hypertrophy in canine chondrocytes through lentiviral vector expression of Sox9 and induced pluripotency stem cell factors. Biotechnol Lett (2015) 0.78
Macropodid herpesvirus 1 encodes genes for both thymidylate synthase and ICP34.5. Virus Genes (2002) 0.78
C-reactive protein and fibrinogen in acute stroke patients with and without sleep apnea. Cerebrovasc Dis (2007) 0.78
Increasing positive end expiratory pressure at extubation reduces subglottic secretion aspiration in a bench-top model. Nurs Crit Care (2010) 0.78
Absence of mutations in the prion-protein gene in a large cohort of HMSN patients. Neuromuscul Disord (2005) 0.77
Ligand-induced coactivator recruitment to peroxisome proliferator-activated receptor alpha characterized by fluorescence resonance energy transfer. Methods Enzymol (2002) 0.77
Ascorbic acid and sodium-dependent vitamin C transporters in the peripheral nervous system: from basic science to clinical trials. Antioxid Redox Signal (2013) 0.77
The pressure exerted on the tracheal wall by two endotracheal tube cuffs: A prospective observational bench-top, clinical and radiological study. BMC Anesthesiol (2010) 0.77
COMT Val158Met Polymorphism Modulates Cognitive Effects of Dietary Intervention. Front Aging Neurosci (2010) 0.77
Isolation of cancer stem like cells from human adenosquamous carcinoma of the lung supports a monoclonal origin from a multipotential tissue stem cell. PLoS One (2013) 0.77
The incidence of ventilator-associated pneumonia using the PneuX System with or without elective endotracheal tube exchange: A pilot study. BMC Res Notes (2011) 0.77
Intracerebral mass lesion diagnosed as cryptococcoma in a patient with sarcoidosis, a rare opportunistic manifestation induced by immunosuppression with corticosteroids. J Neurol (2012) 0.76
The Babinski-2 sign in hemifacial spasm. Mov Disord (2013) 0.76
Night-time bradyarrhythmia in a patient with mild obstructive sleep apnea syndrome is reversed with CPAP treatment. J Clin Sleep Med (2006) 0.76
Expanding mutation spectrum in CPT II gene: identification of four novel mutations. J Neurol (2013) 0.76
Further Long-term Studies Are Required. Dtsch Arztebl Int (2016) 0.75
PEEP is protective against pulmonary microaspiration. Crit Care Med (2009) 0.75
Swine flu: provision of ventilation in a worst-case scenario. Crit Care (2009) 0.75
Blowing the pipes clean works! Respir Care (2010) 0.75
A multidisciplinary approach to reduce central line-associated bloodstream infections. Jt Comm J Qual Patient Saf (2013) 0.75
Susac syndrome treated with subcutaneous immunoglobulin. Eur Neurol (2013) 0.75
Using an alarm to improve drug trolley safety. Nurs Times (2015) 0.75
The coated antiseptic tip (CAT) syringe. J Med Eng Technol (2015) 0.75
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy. Muscle Nerve (2004) 0.75
Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy. J Neurol (2010) 0.75
Extubation in intensive care units in the UK: an online survey. Nurs Crit Care (2010) 0.75