Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 54

1.

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Timmerman V, Strickland AV, Züchner S.

Genes (Basel). 2014 Jan 22;5(1):13-32. doi: 10.3390/genes5010013.

PMID:
24705285
[PubMed]
Free PMC Article
2.

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M.

Orphanet J Rare Dis. 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38. Review.

PMID:
24646194
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Genetic architecture of reciprocal CNVs.

Golzio C, Katsanis N.

Curr Opin Genet Dev. 2013 Jun;23(3):240-8. doi: 10.1016/j.gde.2013.04.013. Epub 2013 Jun 5. Review.

PMID:
23747035
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

2012 William Allan Award: Adventures in cytogenetics.

Francke U.

Am J Hum Genet. 2013 Mar 7;92(3):325-37. doi: 10.1016/j.ajhg.2013.01.010. No abstract available.

PMID:
23472754
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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. Epub 2012 Dec 7. Review.

PMID:
23224996
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease.

Kinter J, Lazzati T, Schmid D, Zeis T, Erne B, Lützelschwab R, Steck AJ, Pareyson D, Peles E, Schaeren-Wiemers N.

Neurobiol Dis. 2013 Jan;49:221-31. doi: 10.1016/j.nbd.2012.08.009. Epub 2012 Aug 25.

PMID:
22940629
[PubMed - in process]
Free PMC Article
7.

Charcot-Marie-Tooth disease and intracellular traffic.

Bucci C, Bakke O, Progida C.

Prog Neurobiol. 2012 Dec;99(3):191-225. doi: 10.1016/j.pneurobio.2012.03.003. Epub 2012 Mar 22. Review.

PMID:
22465036
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.

Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J.

Hum Mol Genet. 2012 Apr 1;21(7):1581-91. doi: 10.1093/hmg/ddr595. Epub 2011 Dec 15.

PMID:
22180461
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

Weterman MA, Sorrentino V, Kasher PR, Jakobs ME, van Engelen BG, Fluiter K, de Wissel MB, Sizarov A, Nürnberg G, Nürnberg P, Zelcer N, Schelhaas HJ, Baas F.

Hum Mol Genet. 2012 Jan 15;21(2):358-70. doi: 10.1093/hmg/ddr471. Epub 2011 Oct 19.

PMID:
22012984
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Peripheral myelin protein-22 (PMP22) modulates alpha 6 integrin expression in the human endometrium.

Rao RG, Sudhakar D, Hogue CP, Amici S, Gordon LK, Braun J, Notterpek L, Goodglick L, Wadehra M.

Reprod Biol Endocrinol. 2011 Apr 25;9:56. doi: 10.1186/1477-7827-9-56.

PMID:
21518455
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM.

Hum Mol Genet. 2011 Jun 15;20(12):2482-94. doi: 10.1093/hmg/ddr123. Epub 2011 Mar 29.

PMID:
21447600
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Schwann cell autophagy induced by SAHA, 17-AAG, or clonazepam can reduce bortezomib-induced peripheral neuropathy.

Watanabe T, Nagase K, Chosa M, Tobinai K.

Br J Cancer. 2010 Nov 9;103(10):1580-7. doi: 10.1038/sj.bjc.6605954. Epub 2010 Oct 19.

PMID:
20959823
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases.

Carra S, Boncoraglio A, Kanon B, Brunsting JF, Minoia M, Rana A, Vos MJ, Seidel K, Sibon OC, Kampinga HH.

J Biol Chem. 2010 Nov 26;285(48):37811-22. doi: 10.1074/jbc.M110.127498. Epub 2010 Sep 21.

PMID:
20858900
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.

Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20.

PMID:
20493460
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F.

Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4.

PMID:
19888301
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Genomic disorders ten years on.

Lupski JR.

Genome Med. 2009 Apr 24;1(4):42. doi: 10.1186/gm42.

PMID:
19439022
[PubMed]
Free PMC Article
17.

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B.

Neurogenetics. 2009 Oct;10(4):275-87. doi: 10.1007/s10048-009-0183-3. Epub 2009 Mar 17. Erratum in: Neurogenetics. 2009 Oct;10(4):375-6. Sereda, Michael [corrected to Sereda, Michael Werner]; Stassart, Ruth Martha [added].

PMID:
19290556
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a.

Verrier JD, Lau P, Hudson L, Murashov AK, Renne R, Notterpek L.

Glia. 2009 Sep;57(12):1265-79. doi: 10.1002/glia.20846.

PMID:
19170179
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Molecular mechanisms of inherited demyelinating neuropathies.

Scherer SS, Wrabetz L.

Glia. 2008 Nov 1;56(14):1578-89. doi: 10.1002/glia.20751. Review.

PMID:
18803325
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy.

Douglas DS, Popko B.

Neurochem Res. 2009 Jan;34(1):124-37. doi: 10.1007/s11064-008-9719-4. Epub 2008 May 15. Review.

PMID:
18481175
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk