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Results: 1 to 20 of 132

1.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V.

Am J Hum Genet. 2003 Mar;72(3):722-7. Epub 2003 Jan 21.

PMID:
12545426
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease.

Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C.

J Neurosci. 2008 Feb 13;28(7):1640-8. doi: 10.1523/JNEUROSCI.3677-07.2008.

PMID:
18272684
[PubMed - indexed for MEDLINE]
Free Article
3.

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.

Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V.

Neurology. 2000 Nov 28;55(10):1552-7.

PMID:
11094113
[PubMed - indexed for MEDLINE]
4.

A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease.

Wang X, Han C, Liu W, Wang P, Zhang X.

Gene. 2014 Jan 25;534(2):431-4.

PMID:
24498653
[PubMed - indexed for MEDLINE]
5.

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.

Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F.

Neurology. 2006 Oct 24;67(8):1476-8.

PMID:
17060578
[PubMed - indexed for MEDLINE]
6.

Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B.

De Luca A, Progida C, Spinosa MR, Alifano P, Bucci C.

Biochem Biophys Res Commun. 2008 Jul 25;372(2):283-7. doi: 10.1016/j.bbrc.2008.05.060. Epub 2008 May 21.

PMID:
18501189
[PubMed - indexed for MEDLINE]
7.

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C.

J Neurol Neurosurg Psychiatry. 1997 Jun;62(6):570-3.

PMID:
9219740
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Rab7 and the CMT2B disease.

Cogli L, Piro F, Bucci C.

Biochem Soc Trans. 2009 Oct;37(Pt 5):1027-31. doi: 10.1042/BST0371027. Review.

PMID:
19754445
[PubMed - indexed for MEDLINE]
9.

Molecular basis of Charcot-Marie-Tooth type 2B disease.

Bucci C, De Luca M.

Biochem Soc Trans. 2012 Dec 1;40(6):1368-72. doi: 10.1042/BST20120197.

PMID:
23176482
[PubMed - indexed for MEDLINE]
10.

Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.

Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, Auer-Grumbach M, Asselbergh B, Timmerman V.

Neurobiol Dis. 2014 May;65:211-9. doi: 10.1016/j.nbd.2014.01.021. Epub 2014 Feb 9.

PMID:
24521780
[PubMed - indexed for MEDLINE]
11.

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV.

Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 7.

PMID:
10841809
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K.

Am J Hum Genet. 2003 Nov;73(5):1106-19. Epub 2003 Oct 21.

PMID:
14574644
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.

Ann Neurol. 2004 Oct;56(4):586-90.

PMID:
15455439
[PubMed - indexed for MEDLINE]
14.

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N.

Am J Hum Genet. 2007 Jul;81(1):1-16. Epub 2007 May 15.

PMID:
17564959
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V.

Nat Genet. 2004 Jun;36(6):602-6. Epub 2004 May 2.

PMID:
15122254
[PubMed - indexed for MEDLINE]
16.

The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway.

Yamauchi J, Torii T, Kusakawa S, Sanbe A, Nakamura K, Takashima S, Hamasaki H, Kawaguchi S, Miyamoto Y, Tanoue A.

J Neurosci Res. 2010 Nov 1;88(14):3189-97. doi: 10.1002/jnr.22460.

PMID:
20645406
[PubMed - indexed for MEDLINE]
17.

Genetic evaluation of inherited motor/sensory neuropathy.

Chance PF.

Suppl Clin Neurophysiol. 2004;57:228-42. Review.

PMID:
16106622
[PubMed - indexed for MEDLINE]
18.

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.

McCray BA, Skordalakes E, Taylor JP.

Hum Mol Genet. 2010 Mar 15;19(6):1033-47. doi: 10.1093/hmg/ddp567. Epub 2009 Dec 22.

PMID:
20028791
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

Kwon JM, Elliott JL, Yee WC, Ivanovich J, Scavarda NJ, Moolsintong PJ, Goodfellow PJ.

Am J Hum Genet. 1995 Oct;57(4):853-8.

PMID:
7573046
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.

Cogli L, Progida C, Thomas CL, Spencer-Dene B, Donno C, Schiavo G, Bucci C.

Acta Neuropathol. 2013 Feb;125(2):257-72. doi: 10.1007/s00401-012-1063-8. Epub 2012 Nov 23.

PMID:
23179371
[PubMed - indexed for MEDLINE]
Free PMC Article

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