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Results: 1 to 20 of 265

1.

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.

Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E.

Neurology. 2008 Mar 18;70(12):976-8. doi: 10.1212/01.wnl.0000305963.37449.32. No abstract available.

PMID:
18347322
[PubMed - indexed for MEDLINE]
2.

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.

Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Rivera T, Solanellas J, Moreno F.

J Med Genet. 2003 Aug;40(8):636-9. No abstract available.

PMID:
12920081
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Myoclonus-dystonia due to maternal uniparental disomy.

Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E.

Arch Neurol. 2008 Oct;65(10):1380-5. doi: 10.1001/archneur.65.10.1380.

PMID:
18852357
[PubMed - indexed for MEDLINE]
4.

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.

Bienfait HM, Baas F, Gabreëls-Festen AA, Koelman JH, Langerhorst CT, de Visser M.

Neuromuscul Disord. 2002 Mar;12(3):281-5.

PMID:
11801400
[PubMed - indexed for MEDLINE]
5.

A "nerve" ending story in the identification of mutations in Charcot-Marie-Tooth neuropathy.

Timmerman V, Herrmann DN.

Neurology. 2006 Oct 10;67(7):1114-5. No abstract available.

PMID:
17030741
[PubMed - indexed for MEDLINE]
6.

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

Verny C, Ravisé N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E.

Neurology. 2004 Oct 26;63(8):1527-9.

PMID:
15505184
[PubMed - indexed for MEDLINE]
7.

Mutation screening of Charcot-Marie-Tooth patients in Poland.

Kochański A, Timmerman V, Jedrzejowska H, Ryniewicz B, Löfgren A, De Vriendt E, Van Broeckhoven C, Latos-Bieleńska A, Hausmanowa-Petrusewicz I.

Ann N Y Acad Sci. 1999 Sep 14;883:493-6. No abstract available.

PMID:
10586282
[PubMed - indexed for MEDLINE]
9.

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I.

Neuromuscul Disord. 2004 Mar;14(3):229-32.

PMID:
15036333
[PubMed - indexed for MEDLINE]
10.

Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation.

Young T, Shuey N, Partridge J, Bremner FD, Nicholl DJ.

J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):234-6. doi: 10.1136/jnnp-2012-302469. Epub 2012 Nov 29. No abstract available.

PMID:
23197742
[PubMed - indexed for MEDLINE]
11.

MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.

Lee YC, Yu CT, Lin KP, Chang MH, Hsu SL, Liu YF, Lu YC, Soong BW.

Neurology. 2008 Jan 22;70(4):273-7. doi: 10.1212/01.wnl.0000296828.66915.bf.

PMID:
18209201
[PubMed - indexed for MEDLINE]
12.

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.

Joo IS, Ki CS, Joo SY, Huh K, Kim JW.

Neuromuscul Disord. 2004 May;14(5):325-8.

PMID:
15099592
[PubMed - indexed for MEDLINE]
13.

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C, Vita G.

Acta Neurol Scand. 2008 Nov;118(5):328-32. doi: 10.1111/j.1600-0404.2008.01021.x. Epub 2008 Apr 12.

PMID:
18422810
[PubMed - indexed for MEDLINE]
14.

Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.

Kochański A.

Acta Myol. 2004 May;23(1):6-9. Review.

PMID:
15298082
[PubMed - indexed for MEDLINE]
15.

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B.

Lee YC, Chang MH, Lin KP, Soong BW.

Hum Genet. 2005 Dec;118(3-4):547-8. No abstract available.

PMID:
16521307
[PubMed - indexed for MEDLINE]
16.

Increased severity over generations of Charcot-Marie-Tooth disease type 1A.

Steiner I, Gotkine M, Steiner-Birmanns B, Biran I, Silverstein S, Abeliovich D, Argov Z, Wirguin I.

J Neurol. 2008 Jun;255(6):813-9. doi: 10.1007/s00415-008-0693-1. Epub 2008 Apr 30.

PMID:
18438698
[PubMed - indexed for MEDLINE]
17.

Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].

Bissar-Tadmouri N, Gulsen-Parman Y, Latour P, Deymeer F, Serdaroglu P, Vandenberghe A, Battaloglu E.

Hum Mutat. 1999 Nov;14(5):449. No abstract available.

PMID:
10533074
[PubMed - indexed for MEDLINE]
18.

Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A.

Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S.

Neurology. 1997 Dec;49(6):1630-5.

PMID:
9409358
[PubMed - indexed for MEDLINE]
19.

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

Seeman P, Mazanec R, Huehne K, Suslíková P, Keller O, Rautenstrauss B.

Neurology. 2004 Aug 24;63(4):733-5.

PMID:
15326256
[PubMed - indexed for MEDLINE]
20.

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

Park HK, Kim BJ, Sung DH, Ki CS, Kim JW.

Clin Genet. 2006 Sep;70(3):253-6. No abstract available.

PMID:
16922730
[PubMed - indexed for MEDLINE]
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