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Similarity
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
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DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
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PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.
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Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A).
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The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
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Analysis of protein-coding genetic variation in 60,706 humans.
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Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A.
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
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Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
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Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13).
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Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.
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Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy.
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Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy.
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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
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Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice.
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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
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Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
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Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
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The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Christina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, Izabela Karbassi, Jeremiah R Jones, Matthew C Evans, Corey D Braastad, Crystal M Bishop, Malgorzata Jaremko, Zhenyuan Wang,[...]. Mol Genet Genomic Med 2014
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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.
Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef,[...]. Orphanet J Rare Dis 2014
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The PMP22 gene and its related diseases.
Jun Li, Brett Parker, Colin Martyn, Chandramohan Natarajan, Jiasong Guo. Mol Neurobiol 2013
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Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
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PMP22 expression in dermal nerve myelin from patients with CMT1A.
Istvan Katona, Xingyao Wu, Shawna M E Feely, Stephanie Sottile, Carly E Siskind, Lindsey J Miller, Michael E Shy, Jun Li. Brain 2009
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Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
Mehrdad Khajavi, Ken Inoue, Wojciech Wiszniewski, Tomoko Ohyama, G Jackson Snipes, James R Lupski. Am J Hum Genet 2005
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Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
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Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
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MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study.
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Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.
Joshua Burns, Robert A Ouvrier, Eppie M Yiu, Pathma D Joseph, Andrew J Kornberg, Michael C Fahey, Monique M Ryan. Lancet Neurol 2009
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N Jhangiani, Matthew N Bainbridge,[...]. Cell Rep 2015
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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
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New developments in Charcot-Marie-Tooth neuropathy and related diseases.
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Connexin mutations in X-linked Charcot-Marie-Tooth disease.
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Lidiane Carine Lima Santos Barreto, Fernanda Santos Oliveira, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Catarina Andrade Garcez, Gabriel Mattos Goes, Eduardo Luis Aquino Neves, Jullyana de Souza Siqueira Quintans, Adriano Antunes de Souza Araújo. Neuroepidemiology 2016
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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
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SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
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Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression.
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Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.