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Items: 1 to 20 of 113

1.

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE.

J Med Genet. 1994 Mar;31(3):193-6.

2.

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

Pericak-Vance MA, Barker DF, Bergoffen JA, Chance P, Cochrane S, Dahl N, Exler MC, Fain PR, Fairweather ND, Fischbeck K, et al.

Hum Hered. 1995 May-Jun;45(3):121-8.

PMID:
7615296
3.

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE.

Hum Mol Genet. 1994 Jan;3(1):29-34. Erratum in: Hum Mol Genet 1994 Jun;3(6):1034.

PMID:
8162049
4.

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA.

Hum Genet. 1997 Apr;99(4):501-5.

PMID:
9099841
5.

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.

Ionasescu VV.

Muscle Nerve. 1995 Mar;18(3):267-75. Review.

PMID:
7870103
6.

Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.

Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA.

Neurology. 2006 Dec 12;67(11):2016-21.

PMID:
17159110
7.

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Schiavon F, Fracasso C, Mostacciuolo ML.

Hum Mutat. 1996;8(1):83-4. No abstract available.

PMID:
8807343
8.
9.

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Ionasescu V, Searby C, Ionasescu R.

Hum Mol Genet. 1994 Feb;3(2):355-8.

PMID:
8004109
10.

Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.

Beckett J, Holden JJ, Simpson NE, White BN, MacLeod PM.

J Neurogenet. 1986 Jul;3(4):225-31.

PMID:
3462379
11.

Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy.

Ionasescu VV, Trofatter J, Haines JL, Ionasescu R, Searby C.

Neurology. 1992 Apr;42(4):903-8.

PMID:
1565250
13.

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF.

Hum Genet. 1985;70(1):38-42.

PMID:
2987105
14.

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

Oterino A, Montón FI, Cabrera VM, Pinto F, Gonzalez A, Lavilla NR.

J Med Genet. 1996 May;33(5):413-5.

15.

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB, Park JM, Yu JS, Yoo DH, Nam DE, Park HJ, Lee JS, Hwang SH, Chung KW, Choi BO.

J Peripher Nerv Syst. 2017 Sep;22(3):172-181. doi: 10.1111/jns.12217.

PMID:
28448691
16.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
17.

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.

Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C.

Neurology. 1996 May;46(5):1311-8.

PMID:
8628473
18.

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.

Mostacciuolo ML, Müller E, Fardin P, Micaglio GF, Bardoni B, Guioli S, Camerino G, Danieli GA.

Hum Genet. 1991 May;87(1):23-7.

PMID:
1674715
19.

Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.

Milley GM, Varga ET, Grosz Z, Bereznai B, Aranyi Z, Boczan J, Dioszeghy P, Kálmán B, Gal A, Molnar MJ.

Neuromuscul Disord. 2016 Oct;26(10):706-711. doi: 10.1016/j.nmd.2016.07.012. Epub 2016 Jul 27.

PMID:
27544631
20.

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

Seeman P, Mazanec R, Ctvrtecková M, Smilková D.

Int J Mol Med. 2001 Oct;8(4):461-8.

PMID:
11562788

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