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Items: 1 to 20 of 264

1.

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR.

Ann Neurol. 2006 Feb;59(2):358-64.

PMID:
16437560
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.

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
5.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
6.

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.

Arch Neurol. 2007 Jul;64(7):966-70.

PMID:
17620486
7.

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
8.

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. Epub 2011 Jan 19.

PMID:
21252112
9.

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM.

Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456.

PMID:
18698610
10.

Inherited neuropathies: from gene to disease.

Keller MP, Chance PF.

Brain Pathol. 1999 Apr;9(2):327-41. Review.

PMID:
10219749
12.

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.

Adlkofer K, Frei R, Neuberg DH, Zielasek J, Toyka KV, Suter U.

J Neurosci. 1997 Jun 15;17(12):4662-71.

13.

A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.

Sahenk Z, Chen L, Freimer M.

Neurology. 1998 Sep;51(3):702-7.

PMID:
9748013
14.

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, van Broeckhoven C, Evgrafov OV.

Hum Mutat. 2000;15(4):340-7. Erratum in: Hum Mutat 2000;16(2):175.

PMID:
10737979
15.

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
16.

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
18.

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.

Arch Neurol. 2005 Aug;62(8):1201-7.

PMID:
16087758
19.

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
20.

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

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

Acta Biochim Pol. 2009;56(4):627-30. Epub 2009 Oct 15.

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