Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 101

1.

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.

Hyun YS, Park HJ, Heo SH, Yoon BR, Nam SH, Kim SB, Park CI, Choi BO, Chung KW.

Clin Genet. 2014 Dec;86(6):592-4. doi: 10.1111/cge.12327. Epub 2013 Dec 20. No abstract available.

PMID:
24354524
2.

Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase.

Froelich CA, First EA.

Biochemistry. 2011 Aug 23;50(33):7132-45. doi: 10.1021/bi200989h. Epub 2011 Jul 26.

PMID:
21732632
3.

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium.

J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1.

4.

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.

Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V.

Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22.

PMID:
16429158
5.

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.

Storkebaum E, Leitão-Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, Ooms T, Jacobs A, Van Dijck P, Yang XL, Schimmel P, Norga K, Timmerman V, Callaerts P, Jordanova A.

Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11782-7. doi: 10.1073/pnas.0905339106. Epub 2009 Jun 26.

6.

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED.

Am J Hum Genet. 2003 May;72(5):1293-9. Epub 2003 Apr 10.

7.

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A.

Neurobiol Dis. 2014 Aug;68:180-9. doi: 10.1016/j.nbd.2014.04.020. Epub 2014 May 5.

8.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

Latour P, Thauvin-Robinet C, Baudelet-Méry C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayençon M, Sarcey A, Broussolle E, Camu W, David A, Rousson R.

Am J Hum Genet. 2010 Jan;86(1):77-82. doi: 10.1016/j.ajhg.2009.12.005. Epub 2009 Dec 31.

9.
10.

Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.

Niehues S, Bussmann J, Steffes G, Erdmann I, Köhrer C, Sun L, Wagner M, Schäfer K, Wang G, Koerdt SN, Stum M, Jaiswal S, RajBhandary UL, Thomas U, Aberle H, Burgess RW, Yang XL, Dieterich D, Storkebaum E.

Nat Commun. 2015 Jul 3;6:7520. doi: 10.1038/ncomms8520. Erratum in: Nat Commun. 2016;7:10497. Jaiswal, Sumit [Added].

11.

Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.

Holmberg BH, Holmgren G, Nelis E, van Broeckhoven C, Westerberg B.

J Med Genet. 1994 Jun;31(6):435-41.

12.

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.

Kochanski A, Kennerson M, Kawulak M, Ryniewicz B, Rowinska-Marcinska K, Walizada G, Nowakowski A, Hausmanowa-Petrusewicz I, Nicholson GA.

Neurology. 2005 Feb 8;64(3):533-5.

PMID:
15699389
13.

Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

Nicolaou P, Zamba-Papanicolaou E, Koutsou P, Kleopa KA, Georghiou A, Hadjigeorgiou G, Papadimitriou A, Kyriakides T, Christodoulou K.

Neuroepidemiology. 2010;35(3):171-7. doi: 10.1159/000314351. Epub 2010 Jun 23.

PMID:
20571287
14.

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A.

Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Erratum in: Hum Mutat. 2014 Apr;35(4):512.

15.

Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.

Leitão-Gonçalves R, Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A.

Amino Acids. 2012 May;42(5):1661-8. doi: 10.1007/s00726-011-0868-4. Epub 2011 Mar 8.

PMID:
21384131
16.

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A.

Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681.

17.

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.

Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW.

Neuron. 2006 Sep 21;51(6):715-26.

18.

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

Orth U, Fairweather N, Exler MC, Schwinger E, Gal A.

Hum Mol Genet. 1994 Sep;3(9):1699-700. No abstract available.

PMID:
7833935
19.

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.

Abe A, Hayasaka K.

J Hum Genet. 2009 May;54(5):310-2. doi: 10.1038/jhg.2009.25. Epub 2009 Mar 27.

PMID:
19329989
20.

Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P.

Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11239-44. Epub 2007 Jun 26.

Items per page

Supplemental Content

Write to the Help Desk