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Items: 1 to 20 of 111

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.

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
5.

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
6.

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

Ionasescu VV.

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

PMID:
7870103
7.
8.

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
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.

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
11.

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
13.

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.

14.

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
15.

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
16.

A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.

Goonewardena P, Welihinda J, Anvret M, Gyftodimou J, Haegermark A, Iselius L, Lindsten J, Pettersson U.

Clin Genet. 1988 Jun;33(6):435-40.

PMID:
2901924
17.

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.

Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D.

Hum Genet. 1996 Aug;98(2):172-5.

PMID:
8698335
18.

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
19.

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.

Le Guern E, Ravise N, Gugenheim M, Vignal A, Penet C, Bouche P, Weissenbach J, Agid Y, Brice A.

Neuromuscul Disord. 1994 Sep-Nov;4(5-6):463-9.

PMID:
7881290
20.

Linkage in a family with X-linked Charcot-Marie-Tooth disease.

Haites N, Fairweather N, Clark C, Kelly KF, Simpson S, Johnston AW.

Clin Genet. 1989 Jun;35(6):399-403.

PMID:
2567643
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