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Items: 1 to 20 of 95

1.

Charcot-Marie-Tooth disease type 4C in Japan: report of a case.

Iguchi M, Hashiguchi A, Ito E, Toda K, Urano M, Shimizu Y, Takeuchi C, Saito K, Takashima H, Uchiyama S.

Muscle Nerve. 2013 Feb;47(2):283-6. doi: 10.1002/mus.23540. Epub 2012 Dec 28.

PMID:
23281072
2.

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.

Neurology. 2006 Aug 22;67(4):602-6.

PMID:
16924012
3.

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P.

Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1.

PMID:
21291453
4.

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

Ichikawa K, Numasawa K, Takeshita S, Hashiguchi A, Takashima H.

Pediatr Int. 2016 Nov;58(11):1252-1254. doi: 10.1111/ped.13152.

PMID:
27882734
5.

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

Yger M, Stojkovic T, Tardieu S, Maisonobe T, Brice A, Echaniz-Laguna A, Alembik Y, Girard S, Cazeneuve C, Leguern E, Dubourg O.

J Peripher Nerv Syst. 2012 Mar;17(1):112-22. doi: 10.1111/j.1529-8027.2012.00382.x.

PMID:
22462672
6.

Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.

Laššuthová P, Gregor M, Sarnová L, Machalová E, Sedláček R, Seeman P.

J Neurogenet. 2012 Sep;26(3-4):413-20. doi: 10.3109/01677063.2012.711398. Epub 2012 Sep 5.

PMID:
22950825
7.

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.

Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM.

Neuromuscul Disord. 2009 Apr;19(4):264-9. doi: 10.1016/j.nmd.2009.01.006. Epub 2009 Mar 9.

PMID:
19272779
8.

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.

Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R.

Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. doi: 10.1073/pnas.0905523106. Epub 2009 Sep 29. Erratum in: Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15305. Kleine, Henning [added]; Luscher, Bernhard [added].

9.

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B.

Neuromuscul Disord. 2008 Jun;18(6):483-92. doi: 10.1016/j.nmd.2008.04.001. Epub 2008 Jun 3.

PMID:
18511281
10.

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.

11.

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C.

Clin Genet. 2007 Apr;71(4):343-9.

PMID:
17470135
12.

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C.

Hum Mol Genet. 2009 Dec 1;18(23):4603-14. doi: 10.1093/hmg/ddp427. Epub 2009 Sep 10.

PMID:
19744956
13.

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.

14.

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.

Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L.

Neuromuscul Disord. 2006 Jul;16(7):449-53. Epub 2006 Jun 27.

PMID:
16806930
15.

The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.

Arai H, Hayashi M, Hayasaka K, Kanda T, Tanabe Y.

Neuromuscul Disord. 2013 Aug;23(8):652-5. doi: 10.1016/j.nmd.2013.04.010. Epub 2013 Jun 14.

PMID:
23770104
17.

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K.

J Hum Genet. 2004;49(7):376-9. Epub 2004 Jun 12.

PMID:
15197604
18.

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].

Bort S, Sevilla T, Vílchez JJ, Prieto F, Palau F.

Med Clin (Barc). 1995 May 6;104(17):648-52. Spanish. Erratum in: Med Clin (Barc) 1995 Jul 1;105(5):179.

PMID:
7623491
19.

[A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12].

Inoue M, Kojima M, Aikoh H, Sugai K, Murakami N, Nonaka I, Hayasaka K, Yamamoto M, Sobue G.

No To Hattatsu. 1999 Sep;31(5):452-7. Japanese.

PMID:
10487071
20.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175.

PMID:
27231023

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