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Items: 1 to 20 of 88

1.

Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.

Luigetti M, Zollino M, Conti G, Romano A, Sabatelli M.

Neurol Sci. 2013 Sep;34(9):1705-7. doi: 10.1007/s10072-012-1277-5. Epub 2012 Dec 24. Review. No abstract available.

PMID:
23263778
2.
3.

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.

Ann Neurol. 2002 Feb;51(2):190-201.

PMID:
11835375
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.

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.

6.

Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.

Gouvea SP, S Borghetti VH, Bueno KC, Genari AB, Lourenço CM, Sobreira C, Barreira AA, Marques W Jr.

Neurogenetics. 2010 Feb;11(1):135-8. doi: 10.1007/s10048-009-0211-3. Epub 2009 Aug 25.

PMID:
19705173
7.

A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

Zubair S, Holland NR, Beson B, Parke JT, Prodan CI.

J Neurol. 2008 Sep;255(9):1417-8. doi: 10.1007/s00415-008-0896-5. Epub 2008 Jul 7. No abstract available.

PMID:
18592125
8.

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

Vital A, Sole G, Casenave P, Magdelaine C, Ferrer X, Vital C, Goizet C.

J Peripher Nerv Syst. 2013 Jun;18(2):181-4. doi: 10.1111/jns5.12028.

PMID:
23781966
9.

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE.

Am J Med Genet. 2002 Apr 1;108(4):295-303. Review.

PMID:
11920834
11.
12.

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
13.

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
14.

Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.

Patel PI.

Curr Opin Genet Dev. 1993 Jun;3(3):438-44. Review.

PMID:
8353419
15.

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
16.
17.

Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.

Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Diraison P, Chapon F, Chazot G, Vandenberghe A.

Hum Mutat. 1996;8(2):185-6. No abstract available.

PMID:
8844219
18.

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
19.

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

Sambuughin N, de Bantel A, McWilliams S, Sivakumar K.

Neurology. 2003 Feb 11;60(3):506-8.

PMID:
12578939
20.

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