| 1 | CMTX1, GJB1, GJC2, PMLD1, SPG44
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| Diseases of connexins expressed in myelinating glia.
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| Abrams CK.
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| Neurosci Lett 695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23. Review.
2019
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| 2 | CMTX1, GJB1
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| The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.
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| Wen Q, Cao L, Yang C, Xie Y.
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| Front Neurol 9:461. doi: 10.3389/fneur.2018.00461. eCollection 2018.
2018
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| 3 | CMTX1, GJB1
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| Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
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| Yuan JH, Sakiyama Y, Hashiguchi A, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Takashima H.
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| Eur J Neurol 25(12):1454-1461. doi: 10.1111/ene.13750. Epub 2018 Aug 3.
2018
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| 4 | CMTX1, GJB1
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| Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
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| Kulshrestha R, Burton-Jones S, Antoniadi T, Rogers M, Jaunmuktane Z, Brandner S, Kiely N, Manuel R, Willis T.
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| Neuromuscul Disord 27(8):766-770. doi: 10.1016/j.nmd.2017.05.001. Epub 2017 May 4.
2017
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| 5 | CMTX1, GJB1
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| Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
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| Abrams CK, Goman M, Wong S, Scherer SS, Kleopa KA, Peinado A, Freidin MM.
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| Sci Rep 7:40166. doi: 10.1038/srep40166.
2017
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| 6 | CMTX1, GJB1
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| Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1.
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| Wu N, Said S, Sabat S, Wicklund M, Stahl MC.
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| Case Rep Neurol 7(3):247-52. doi: 10.1159/000442410. eCollection 2015 Sep-Dec.
2015
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| 7 | CMTX1, GJB1
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| Connexins, gap junctions and peripheral neuropathy.
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| Kleopa KA, Sargiannidou I.
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| Neurosci Lett 596:27-32. doi: 10.1016/j.neulet.2014.10.033. Epub 2014 Oct 24. Review.
2015
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| 8 | CMTX1, GJB1
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| Contribution of copy number variations in CMT1X: a retrospective study.
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| Capponi S, Geroldi A, Pezzini I, Gulli R, Ciotti P, Ursino G, Lamp M, Reni L, Schenone A, Grandis M, Mandich P, Bellone E.
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| Eur J Neurol 22(2):406-9. doi: 10.1111/ene.12434. Epub 2014 Apr 12.
2015
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| 9 | CMTX1, GJB1
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| Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.
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| Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM.
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| J Neurol Sci 347(1-2):14-22. doi: 10.1016/j.jns.2014.10.013. Epub 2014 Oct 16. Review.
2014
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| 10 | CMTX1, GJB1
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| Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.
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| McKinney JL, De Los Reyes EC, Lo WD, Flanigan KM.
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| Muscle Nerve 49(3):451-4. doi: 10.1002/mus.24108. Epub 2014 Jan 27.
2014
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| 11 | CMTX1, GJB1
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| Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
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| Borgulová I, Mazanec R, Sakmaryová I, Havlová M, Safka Brožková D, Seeman P.
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| Neurogenetics 14(3-4):189-95. doi: 10.1007/s10048-013-0368-7. Epub 2013 Aug 4.
2013
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| 12 | CCL2, CMTX1
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| Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X.
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| Groh J, Heinl K, Kohl B, Wessig C, Greeske J, Fischer S, Martini R.
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| Hum Mol Genet 19(18):3530-43. Epub 2010 Jun 30.PMID: 20591826 2010
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| 13 | GJB1, CMTX1
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| Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
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| Mandich P, Grandis M, Geroldi A, Acquaviva M, Varese A, Gulli R, Ciotti P, Bellone E.
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| J Hum Genet 53(6):529-33. Epub 2008 Apr 1. 2008
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| 14 | CMTX1, GJB1
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| CMT1X phenotypes represent loss of GJB1 gene function.
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| Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF.
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| Neurology 68(11):849-55.
2007
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| 15 | GJB1, CMTX1
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| Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
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| Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D.
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| J Neurol 253(2):263-4. Epub 2005 Aug 17. No abstract available. 2006
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| 16 | GJB1, CMTX1
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| The effects of a dominant connexin32 mutant in myelinating Schwann cells.
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| Jeng LJ, Balice-Gordon RJ, Messing A, Fischbeck KH, Scherer SS.
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| Mol Cell Neurosci 32(3):283-98. Epub 2006 Jun 21. 2006
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| 17 | GJB1, CMTX1, LITAF, CMT1C
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| Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
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| Beauvais K, Furby A, Latour P.
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| Neuromuscul Disord 16(1):14-8. Epub 2005 Dec 20. 2006
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| 18 | GJB1, CMTX1
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| Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
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| Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY.
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| Neurobiol Dis 15(2):361-70. 2004
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| 19 | CMTX1, GJB1
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| Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.
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| Martin PE, Mambetisaeva ET, Archer DA, George CH, Evans WH.
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| J Neurochem 74(2):711-20. 2000
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| 20 | CMTX1, GJB1
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| Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease.
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| Ressot C, Bruzzone R.
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| Brain Res Brain Res Rev 32(1):192-202. Review. 2000
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| 21 | CMTX1, GJB1
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| Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.
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| Abrams CK, Oh S, Ri Y, Bargiello TA.
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| Brain Res Brain Res Rev 32(1):203-14. Review. 2000
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| 22 | GJB1, CMTX1
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| Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation.
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| Stojkovic T, et al.
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| Neurology 52(5):1010-4. 1999
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| 23 | CMTX1, GJB1
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| X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).
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| Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schroder JM.
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| J Neurol Sci 167(2):90-101 1999
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| 24 | CMTX1, GJB1
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| The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
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| Meggouh F, et al.
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| J Med Genet 35 : 251-252. 1998
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| 25 | CMTX1, GJB1
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| Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.
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| Ressot C, et al.
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| J Neurosci 18 : 4063-4075. 1998
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| 26 | CMTX1, GJB1
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| Four novel mutations of the connexin 32 gene in four japanese families with Charcot-Marie-Tooth disease type 1.
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| Ikegami T, et al.
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| Am J Med Genet 80 : 352-355. 1998
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| 27 | CMTX1, GJB1
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| Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1 : identification of five new mutations.
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| Nelis E, et al.
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| Hum Mutat 9 : 47-52. 1997
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| 28 | CMTX1, GJB1
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| New mutations in the X-linked form of Charcot-Marie-Tooth disease.
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| Latour P, et al.
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| Eur Neurol 37 : 38-42. 1997
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| 29 | CMTX1, GJB1
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| Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
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| Janssen EAM, et al.
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| Hum Genet 99 : 501-505. 1997
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| 30 | CMTX1, GJB1
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| Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
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| Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML.
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| Hum Genet 100(3-4):391-7. 1997
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| 31 | CMTX1
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| Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities : characterization of 14 CX32 mutation in 35 families.
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| Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A.
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| Hum Mutat 10(6):443-52. 1997
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| 32 | GJB1, CMTX1
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| Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease.
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| Tan CC, et al.
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| Hum Mutat 7 : 167-171. 1996
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| 33 | CMTX1, GJB1
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| Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
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| Oterino A, et al.
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| J Med Genet 33 : 413-415. 1996
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| 34 | CMTX1,CMT2A2
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| Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
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| Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Lofgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C.
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| Neurology 46 : 1311-1318. 1996
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| 35 | CMTX1, GJB1
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| Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
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| Schiavon F, et al.
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| Hum Mutat 8 : 83-84. 1996
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| 36 | CMTX1, GJB1
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| X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) : new mutations in the connexin32 gene.
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| Ressot C, et al.
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| Hum Genet 98 : 172-175. 1996
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| 37 | CMTX1, GJB1
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| Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients : functional defects and dominant negative effects.
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| Omori Y, et al.
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| Mol Biol Cell 7 : 907-916. 1996
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| 38 | CMTX1, GJB1
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| Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
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| Ionasescu VV, et al.
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| Neurology 47 : 541-544. 1996
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| 39 | CMTX1, GJB1
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| Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
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| Yoshimura T, et al.
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| Hum Mutat 8 : 270-272. 1996
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| 40 | CMTX1, GJB1
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| A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
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| Gupta S, et al.
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| Hum Mutat 8 : 375-376. 1996
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| 41 | CMTX1, GJB1
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| New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
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| Bone LJ, et al.
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| Neurology 45 : 1863-1866. 1995
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| 42 | CMTX1, GJB1
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| Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1) : additional support that connexin32 is the defect in CMTX1.
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| Pericak-Vance MA, et al.
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| Hum Hered 45 : 121-128. 1995
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| 43 | CMTX1
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| Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.
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| Fain PR, et al.
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| Am J Hum Genet 54 : 229-235. 1994
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| 44 | CMTX1
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| Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
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| Ionasescu V, et al.
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| Hum Mol Genet 3 : 355-358. 1994
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| 45 | GJB1, CMTX1
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| Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
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| Fairweather N, et al.
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| Hum Mol Genet 3 : 29-34. 1994
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| 46 | CMTX1
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| X-linked Charcot-Marie-Tooth disease (CMTX1) : a study of 15 families with 12 highly informative polymorphisms.
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| Cochrane S, et al.
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| J Med Genet 31 : 193-196. 1994
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| 47 | CMTX1, GJB1
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| X-linked dominant Charcot-Marie-Tooth neuropathy : valine-38-methionine substitution of connexin32.
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| Orth U, et al.
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| Hum Mol Genet 3 : 1699-1700. 1994
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| 48 | NAMSD, CMTX1, CMTX2
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| X-linked Charcot-Marie-Tooth (CMT) neuropathies (CMTX1, CMTX2, CMTX3) show different clinical phenotype and molecular genetics. (abstr)
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| Ionasescu VV, et al.
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| Am J Hum Genet 55 : A224. 1994
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| 49 | CMTX1, GJB1
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| Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease. (abstr)
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| Tan C, et al.
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| Am J Hum Genet 55 : A245. 1994
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| 50 | CMTX1
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| Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family : three new markers are closely linked to the gene.
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| Le Guern E, et al.
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| Neuromuscul Disord 4 : 463-469. 1994
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| 51 | CMTX1, GJB1
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| Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.
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| Bruzzone R, et al.
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| Neuron 13 : 1253-1260. 1994
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| 52 | CMTX1, GJB1
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| Connexin mutations in X-linked Charcot-Marie-Tooth disease.
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| Bergoffen J, et al.
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| Science 262 : 2039-2042. 1993
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| 53 | CMTX1
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| Linkage localization of X-linked Charcot-Marie-Tooth disease.
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| Bergoffen JA, et al.
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| Am J Hum Genet 52 : 312-318. 1993
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| 54 | CMTX1
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| Localization of X-linked Charcot-Marie-Tooth disease to Xq13.1.
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| Bergoffen J, et al.
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| Am J Hum Genet 53 : 977. 1993
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| 55 | CMTX1
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| X-linked recessive Charcot-Marie-Tooth neuropathy : clinical and genetic study.
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| Ionasescu VV, et al.
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| Muscle Nerve 15 : 368-373. 1992
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| 56 | CMTX1
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| X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.
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| Mostacciuolo ML, et al.
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| Hum Genet 87 : 23-27. 1991
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| 57 | NAMSD, CMTX1, CMTX2
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| Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
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| Ionasescu VV, et al.
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| Am J Hum Genet 48 : 1075-1083. 1991
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| 58 | CMTX1
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| Localization of X-linked Charcot-Marie-Tooth disease on proximal Xq.
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| La Spada AR, et al.
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| Am J Hum Genet 49S : 357. 1991
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| 59 | CMTX1
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| Linkage in a family with X-linked Charcot-Marie-Tooth disease.
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| Haites N, Fairweather N, Clark C, Kelly KF, Simpson S, Johnston AW.
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| Clin Genet 35 : 399-403. 1989
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| 60 | CMTX1, CMTX5
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| Genetic linkage of X-linked Charcot-Marie-Tooth neuropathy.
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| Ionasescu V, et al.
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| Am J Hum Genet 45 : A143. 1989
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| 61 | CMTX1
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| A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.
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| Goonewardena P, et al.
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| Clin Genet 33 : 435-440. 1988
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| 62 | CMTX1
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| Linkage studies of X-linked neuropathy and spinal muscular atrophy.
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| Fischbeck KH, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 614. 1987
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| 63 | CMTX1, DXYS1X, DXYS1Y
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| The gene for X-linked Charcot-Marie-Tooth disease is very closely linked to the DXYS1 locus.
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| Goonewardena P, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 622. 1987
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| 64 | CMTX1, SBMA
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| Evidence that X-linked Charcot-Marie-Tooth disease and X-linked bulbospinal neuronopathy loci are on opposite sides of DXYS1.
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| Kelly TE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 638. 1987
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| 65 | CMTX1, DXS11, DXS58
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| Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT2) to Xq13.
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| Beckett J, et al.
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| J Neurogenet 3 : 225-231. 1986
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| 66 | CMTX1
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| X-linked dominant Charcot-Marie-Tooth disease : Suggestion of linkage with a cloned DNA sequence from proximal Xq.
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| Gal A, et al.
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| Hum Genet 70 : 38-42. 1985
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| 67 | CMTX1
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| A linkage study using DNA markers localizes the gene for X-linked dominant Charcot-Marie-Tooth disease at Xq13-Xq22.
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| Beckett J, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 579. 1985
|