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Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM.
J Neurol Neurosurg Psychiatry. 2012 May 10. [Epub ahead of print
22577229
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Charcot-Marie-Tooth disease: Emerging mechanisms and therapies.
d'Ydewalle C, Benoy V, Van Den Bosch L.
Int J Biochem Cell Biol. 2012 Apr 30. [Epub ahead of print
22575637
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Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.
Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H.
Neurology. 2012 May 9. [Epub ahead of print
22573628
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LINC complex alterations in DMD and EDMD/CMT fibroblasts.
Taranum S, Vaylann E, Meinke P, Abraham S, Yang L, Neumann S, Karakesisoglou I, Wehnert M, Noegel AA.
Eur J Cell Biol. 2012 May 1. [Epub ahead of print
22555292
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Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.
Fledrich R, Stassart RM, Sereda MW.
Br Med Bull. 2012 May 2. [Epub ahead of print
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A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C.
Neuromuscul Disord. 2012 Apr 28. [Epub ahead of print
22546700
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Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype - Usefulness of human mapping chip linkage analysis in a Czech family.
Safka Brožková D, Nevšímalová S, Mazanec R, Rautenstrauss B, Seeman P.
Neuromuscul Disord. 2012 Apr 28. [Epub ahead of print
22546699
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Identification of Drug Modulators Targeting Gene-Dosage Disease CMT1A.
Jang SW, Lopez-Anido C, Macarthur R, Svaren J, Inglese J.
ACS Chem Biol. 2012 May 2. [Epub ahead of print
22530759
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Myelinating and demyelinating phenotype of Trembler-J mouse (a model of Charcot-Marie-Tooth human disease) analyzed by atomic force microscopy and confocal microscopy.
Rosso G, Negreira C, Sotelo JR, Kun A.
J Mol Recognit. 2012 May;25(5):247-55. doi: 10.1002/jmr.2176
22528185
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Auditory function in children with Charcot-Marie-Tooth disease.
Rance G, Ryan MM, Bayliss K, Gill K, O'Sullivan C, Whitechurch M.
Brain. 2012 May;135(Pt 5):1412-22. Epub 2012 Apr 19
22522939
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Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
Funalot B, Topilko P, Arroyo MA, Sefiani A, Hedley-Whyte ET, Yoldi ME, Richard L, Touraille E, Laurichesse M, Khalifa E, Chauzeix J, Ouedraogo A, Cros D, Magdelaine C, Sturtz FG, Urtizberea JA, Charnay P, Bragado FG, Vallat JM.
Ann Neurol. 2012 May;71(5):719-723. doi: 10.1002/ana.23527
22522483
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Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.
Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS.
Ann Neurol. 2012 May;71(5):642-52. doi: 10.1002/ana.23572
22522479
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Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.
Srivastava AK, Renusch SR, Naiman NE, Gu S, Sneh A, Arnold WD, Sahenk Z, Kolb SJ.
Neurobiol Dis. 2012 Apr 11. [Epub ahead of print
22521462
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Foot deformity in charcot marie tooth disease according to disease severity.
Joo SY, Choi BO, Kim DY, Jung SJ, Cho SY, Hwang SJ.
Ann Rehabil Med. 2011 Aug;35(4):499-506. Epub 2011 Aug 31
22506165
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Goya and a possible first visual representation of Charcot-Marie-Tooth disease.
Perez-Trullen JM, Gimenez-Muñoz A, Roche JC, Campello I, Garcia Gomara MJ, Sanchez Valiente S.
Muscle Nerve. 2012 May;45(5):766-7. doi: 10.1002/mus.23338. No abstract available.
22499111
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Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.
Finsterer J.
Oman Med J. 2012 Mar;27(2):164-7
22496945
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X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Murphy SM, Ovens R, Polke J, Siskind CE, Laurà M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM.
Neuromuscul Disord. 2012 Apr 5. [Epub ahead of print
22483671
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Nephritis and charcot-marie-tooth disease: an unusual association.
Baloch UT, Kiani IG, Butt GU, Masroor I, Khan SJ, Badshah M.
J Coll Physicians Surg Pak. 2012 Apr;22(4):255-7
22482386
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Protein misfolding and clearance in demyelinating peripheral neuropathies: Therapeutic implications.
Lee SM, Chin LS, Li L.
Commun Integr Biol. 2012 Jan 1;5(1):107-10
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Successful antiviral treatment of chronic hepatitis C in patients with rare comorbidities. Two case-reports.
Guardigni V, Fabbri G, Grilli A, Contini C.
Ann Hepatol. 2012 May-Jun;11(3):404-8
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