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Items: 1 to 20 of 29

1.

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
2.

[Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C].

Yu Z, Zhang J, Xu Y, Yang B, He Z, Zhang M, Shen W, Gu M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):57-60. doi: 10.3760/cma.j.issn.1003-9406.2016.01.014. Chinese.

PMID:
26829735
3.

Phenotypic variability of CMT4C in a French-Canadian kindred.

Varley TL, Bourque PR, Baker SK.

Muscle Nerve. 2015 Sep;52(3):444-9. doi: 10.1002/mus.24640. Epub 2015 May 14.

PMID:
25737037
4.

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
5.

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
6.

Charcot-Marie-Tooth Neuropathy Type 4C.

Azzedine H, LeGuern E, Salih MA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Mar 31 [updated 2015 Oct 15].

7.

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.

Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, Kendrick-Jones J, Luzio JP.

Hum Mol Genet. 2010 Mar 15;19(6):1009-18. doi: 10.1093/hmg/ddp565. Epub 2009 Dec 22.

8.

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
9.

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
10.

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
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.

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.

Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L.

J Med Genet. 2005 Dec;42(12):e69.

13.

HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project.

Kikuno R, Nagase T, Waki M, Ohara O.

Nucleic Acids Res. 2002 Jan 1;30(1):166-8.

14.

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A.

Hum Mol Genet. 1996 Oct;5(10):1685-8.

PMID:
8894708
15.

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Manganelli F, Tozza S, Pisciotta C, Bellone E, Iodice R, Nolano M, Geroldi A, Capponi S, Mandich P, Santoro L.

J Peripher Nerv Syst. 2014 Dec;19(4):292-8. doi: 10.1111/jns.12092.

PMID:
25429913
16.

Identification and characterization of the human serotonin-4 receptor gene promoter.

Hiroi T, Hayashi-Kobayashi N, Nagumo S, Ino M, Okawa Y, Aoba A, Matsui H.

Biochem Biophys Res Commun. 2001 Nov 30;289(2):337-44.

PMID:
11716477
17.

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A.

Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15.

18.

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C.

Clin Genet. 2013 Jun;83(6):565-70. doi: 10.1111/cge.12015. Epub 2012 Oct 10.

PMID:
22978647
19.

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.

20.

Charcot-Marie-Tooth Neuropathy Type 4.

Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Sep 24 [updated 2016 Apr 14].

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