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Items: 1 to 20 of 120

1.

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.

Casasnovas C, Banchs I, De Jorge L, Antónia Albertí M, Martínez-Campo Y, Povedano M, Montero J, Volpini V.

Muscle Nerve. 2012 Jan;45(1):135-8. doi: 10.1002/mus.22201.

PMID:
22190321
2.

Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.

Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F.

Neuromuscul Disord. 2004 Dec;14(12):804-9.

PMID:
15564036
3.

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].

Pou Serradell A, Monells J, Téllez MJ, Fossas P, Löfgren A, Meuleman J, Timmerman V, De Jonghe P, Ceuterick C, Martin JJ.

Rev Neurol (Paris). 2002 May;158(5 Pt 1):579-88. French.

PMID:
12072826
4.

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.

Zéphir H, Stojkovic T, Latour P, Hurtevent JF, Blankaert F, Vermersch P.

Neuromuscul Disord. 2005 Jul;15(7):493-7.

PMID:
15955700
5.

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.

Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A.

J Neurol Sci. 2007 Dec 15;263(1-2):194-7.

PMID:
17707409
6.

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Luigetti M, Conte A, Madia F, Mereu ML, Zollino M, Marangi G, Pomponi MG, Liberatore G, Tonali PA, Sabatelli M.

Muscle Nerve. 2008 Aug;38(2):1060-4. doi: 10.1002/mus.21083.

PMID:
18642376
7.

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.

Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.

Arch Neurol. 2007 Jul;64(7):974-8. Erratum in: Arch Neurol. 2007 Oct;64(10):1547. Radovanovic, Danuijola [corrected to Radovanovic, Danijela].

PMID:
17620487
8.
9.

Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis.

Bhatt A, Farooq MU, Aburashed R, Kassab MY, Majid A, Bhatt S, Naravetla B, Dhaliwal G.

Neurol Sci. 2009 Jun;30(3):241-5. doi: 10.1007/s10072-009-0034-x.

PMID:
19238316
10.

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.

van de Wetering RA, Gabreëls-Festen AA, Timmerman V, Padberg GM, Gabreëls FJ, Mariman EC.

Neuromuscul Disord. 2002 Oct;12(7-8):651-5.

PMID:
12207933
11.

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.

Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al.

Nat Genet. 1994 Mar;6(3):263-6. Erratum in: Nat Genet 1994 May;7(1):113.

PMID:
8012388
12.

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A.

Eur J Hum Genet. 2003 Feb;11(2):170-8.

13.

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.

Meuleman J, Pou-Serradell A, Löfgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P.

Neuromuscul Disord. 2001 May;11(4):400-3.

PMID:
11369192
14.

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.

Li J, Krajewski K, Lewis RA, Shy ME.

Muscle Nerve. 2004 Feb;29(2):205-10.

PMID:
14755484
15.

Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.

Sanahuja J, Franco E, Rojas-García R, Gallardo E, Combarros O, Begué R, Granés P, Illa I.

Arch Neurol. 2005 Dec;62(12):1911-4.

PMID:
16344349
16.

Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison.

Hung CC, Lee CN, Lin CY, Cheng WF, Chen CA, Hsieh ST, Yang CC, Jong YJ, Su YN, Lin WL.

Electrophoresis. 2008 Feb;29(3):618-25. doi: 10.1002/elps.200700340.

PMID:
18200636
17.

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.

Young P, Wiebusch H, Stögbauer F, Ringelstein B, Assmann G, Funke H.

Neurology. 1997 Feb;48(2):450-2.

PMID:
9040737
18.

Overview of hereditary neuropathy with liability to pressure palsies.

Chance PF.

Ann N Y Acad Sci. 1999 Sep 14;883:14-21. Review.

PMID:
10586225
20.

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.

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