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Items: 1 to 20 of 100

1.

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

Koutsis G, Pandraud A, Polke JM, Wood NW, Panas M, Karadima G, Houlden H.

Brain. 2012 Aug;135(Pt 8):e217, 1-6; author reply e218, 1-2. doi: 10.1093/brain/aws034. No abstract available.

2.

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.

Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374.

PMID:
21252112
3.

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan..

Brain. 2003 Jan;126(Pt 1):134-51. Review.

PMID:
12477701
4.

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW.

Hum Mutat. 2003 Jan;21(1):100.

PMID:
12497641
5.

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Drac H, Kabzińska D, Moszyńska I, Strugalska-Cynowska H, Hausmanowa-Petrusewicz I, Kochański A.

J Appl Genet. 2011 May;52(2):177-83. doi: 10.1007/s13353-010-0003-3.

PMID:
21107784
6.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

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

PMID:
23106488
7.

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.

Numakura C, Lin C, Oka N, Akiguchi I, Hayasaka K.

Ann Neurol. 2000 Jan;47(1):101-3.

PMID:
10632107
8.

Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ).

Ekici AB, Schweitzer D, Park O, Lorek D, Rautenstrauss B, Krüger G, Friedl W, Uhlhaas S, Bathke K, Heuss D, Kayser C, Grehl H.

Neurogenetics. 2000 Sep;3(1):49-50. No abstract available.

PMID:
11085599
9.

The PMP22 gene and its related diseases.

Li J, Parker B, Martyn C, Natarajan C, Guo J.

Mol Neurobiol. 2013 Apr;47(2):673-98. doi: 10.1007/s12035-012-8370-x. Review.

11.

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.

Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N.

Neurology. 1999 Sep 11;53(4):846-51.

PMID:
10489052
12.

A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Kleopa KA, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K.

Neurogenetics. 2004 Sep;5(3):171-5.

PMID:
15205993
13.
14.

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A.

Hanemann CO, D'Urso D, Gabreëls-Festen AA, Müller HW.

Brain. 2000 May;123 ( Pt 5):1001-6.

PMID:
10775544
15.

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

Mathis S, Corcia P, Tazir M, Camu W, Magdelaine C, Latour P, Biberon J, Guennoc AM, Richard L, Magy L, Funalot B, Vallat JM.

Neuromuscul Disord. 2014 Jun;24(6):524-8. doi: 10.1016/j.nmd.2014.03.014.

PMID:
24792522
16.

Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

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

Clin Genet. 2000 Nov;58(5):396-402.

PMID:
11140841
18.

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
19.

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.

Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U.

Nat Genet. 1995 Nov;11(3):274-80.

PMID:
7581450
20.

Many facets of the peripheral myelin protein PMP22 in myelination and disease.

Naef R, Suter U.

Microsc Res Tech. 1998 Jun 1;41(5):359-71. Review.

PMID:
9672419
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