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Items: 1 to 20 of 162

1.

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.

Neurology. 2005 Jun 14;64(11):1964-7.

PMID:
15955956
2.

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood.

Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA.

Neurology. 2011 Feb 1;76(5):461-6. doi: 10.1212/WNL.0b013e31820a0ceb. Review.

PMID:
21282593
3.

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E.

Am J Hum Genet. 1999 Sep;65(3):722-7.

4.

X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.

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

Muscle Nerve. 1992 Mar;15(3):368-73.

PMID:
1557086
5.

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M.

Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 2.

6.

A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.

Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D.

J Neurol. 2004 Feb;251(2):222-3. No abstract available.

PMID:
14991359
7.

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, Robertson SP, Nicholson GA.

Am J Hum Genet. 2001 Oct;69(4):883-8. Epub 2001 Aug 28.

8.

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.

Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML.

Neuromuscul Disord. 2006 Dec;16(12):878-81. Epub 2006 Oct 17.

PMID:
17052905
9.

Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.

Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF.

J Med Genet. 2006 May;43(5):e20.

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.

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
12.

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE.

Am J Hum Genet. 1999 Jun;64(6):1580-93.

13.

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

Katz BJ, Zhao Y, Warner JE, Tong Z, Yang Z, Zhang K.

Am J Med Genet A. 2006 Oct 15;140(20):2207-11.

PMID:
16969871
14.

X-linked Charcot-Marie-Tooth disease and connexin32.

Ionasescu VV.

Cell Biol Int. 1998 Nov;22(11-12):807-13.

PMID:
10873293
15.

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.

Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 7.

16.

A novel locus for X-linked congenital cataract on Xq24.

Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, Mackey DA, Burdon KP.

Mol Vis. 2008 Apr 18;14:721-6.

17.

Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.

Sahin N, Tan M, Kalay E, Calapoglu M, Karaguzel A.

Int J Neurosci. 2003 Jun;113(6):777-85.

PMID:
12775342
18.

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.

Neurology. 2006 Aug 22;67(4):602-6.

PMID:
16924012
19.

CMT with pyramidal features. Charcot-Marie-Tooth.

Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA.

Neurology. 2003 Feb 25;60(4):696-9.

PMID:
12601114
20.

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant.

Hamiel OP, Raas-Rothschild A, Upadhyaya M, Frydman M, Sarova-Pinhas I, Brand N, Passwell JH.

J Pediatr. 1993 Sep;123(3):431-4.

PMID:
8355122

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