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Results: 1 to 20 of 124

1.

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F.

Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4.

PMID:
19888301
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR.

Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.

PMID:
8862346
[PubMed - indexed for MEDLINE]
3.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

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

PMID:
23106488
[PubMed - indexed for MEDLINE]
4.

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

Huang J, Wu X, Montenegro G, Price J, Wang G, Vance JM, Shy ME, Züchner S.

J Neurol. 2010 May;257(5):735-41. doi: 10.1007/s00415-009-5401-2. Epub 2009 Dec 1.

PMID:
19949810
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L.

Gen Physiol Biophys. 2011 Dec;30(4):379-88. doi: 10.4149/gpb_2011_04_379.

PMID:
22131320
[PubMed - indexed for MEDLINE]
6.

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR.

N Engl J Med. 1993 Jul 8;329(2):96-101.

PMID:
8510709
[PubMed - indexed for MEDLINE]
Free Article
7.

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR.

Hum Genet. 1996 May;97(5):642-9.

PMID:
8655146
[PubMed - indexed for MEDLINE]
8.

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.

King PH, Waldrop R, Lupski JR, Shaffer LG.

Clin Genet. 1998 Nov;54(5):413-6.

PMID:
9842994
[PubMed - indexed for MEDLINE]
9.

Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.

Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S.

Ann Neurol. 2012 Jan;71(1):84-92. doi: 10.1002/ana.22658.

PMID:
22275255
[PubMed - indexed for MEDLINE]
10.

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F.

Hum Genet. 1997 Jun;99(6):746-54.

PMID:
9187667
[PubMed - indexed for MEDLINE]
11.

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.

Young P, Stögbauer F, Wiebusch H, Löfgren A, Timmerman V, Van Broeckhoven C, Ringelstein EB, Assmann G, Funke H.

Neurology. 1998 Mar;50(3):760-3.

PMID:
9521270
[PubMed - indexed for MEDLINE]
13.

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.

Sinkiewicz-Darol E, Kabzińska D, Moszyńska I, Kochański A.

Acta Biochim Pol. 2010;57(3):373-7. Epub 2010 Sep 15.

PMID:
20842290
[PubMed - indexed for MEDLINE]
Free Article
14.

Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.

Roa BB, Garcia CA, Lupski JR.

Int J Neurol. 1991-1992;25-26:97-107. Review.

PMID:
11980069
[PubMed - indexed for MEDLINE]
15.
16.

[PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].

Xing JW, Liu YH, Shamsi BH, Liu XH, Tan L, Xu M.

Zhongguo Dang Dai Er Ke Za Zhi. 2011 Oct;13(10):799-803. Chinese.

PMID:
22000434
[PubMed - indexed for MEDLINE]
Free Article
17.

Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.

De Toffol S, Bellone E, Dulcetti F, Ruggeri AM, Maggio PP, Pulimeno MR, Mandich P, Maggi F, Simoni G, Grati FR.

Genet Test Mol Biomarkers. 2010 Apr;14(2):225-31. doi: 10.1089/gtmb.2009.0118.

PMID:
20187762
[PubMed - indexed for MEDLINE]
18.

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

Lupski JR.

Pediatr Res. 1999 Feb;45(2):159-65. Review.

PMID:
10022584
[PubMed - indexed for MEDLINE]
19.

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B.

Genome Res. 2001 Jun;11(6):1018-33.

PMID:
11381029
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.

Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F.

Neurology. 1997 Feb;48(2):489-93.

PMID:
9040744
[PubMed - indexed for MEDLINE]

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