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Items: 1 to 20 of 100

1.

Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.

Lee AJ, Nam SH, Park JM, Kanwal S, Choi YJ, Lee HJ, Lee KS, Lee JE, Park JS, Choi BO, Chung KW.

J Hum Genet. 2019 Jun 21. doi: 10.1038/s10038-019-0636-y. [Epub ahead of print]

PMID:
31227790
2.

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.

3.

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
4.

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
5.

Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.

Kontogeorgiou Z, Nikolaou K, Kartanou C, Breza M, Panas M, Karadima G, Koutsis G.

J Peripher Nerv Syst. 2019 Mar;24(1):125-130. doi: 10.1111/jns.12305. Epub 2019 Feb 6.

PMID:
30653784
6.

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
7.

Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.

Arntzen KA, Høyer H, Ørstavik K, Tallaksen C, Vedeler C, Østern R, Nebuchennykh M, Braathen GJ, Fagerheim T.

Neuromuscul Disord. 2018 Aug;28(8):639-645. doi: 10.1016/j.nmd.2018.06.004. Epub 2018 Jun 15.

PMID:
30001926
8.

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
9.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
10.

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME.

Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24.

11.

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
12.

Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C.

de Oliveira CM, Fussiger H, Winckler PB, Saute JAM.

Neuromuscul Disord. 2019 Feb;29(2):138-141. doi: 10.1016/j.nmd.2018.11.010. Epub 2018 Nov 29.

PMID:
30658898
13.

Charcot-Marie-Tooth Neuropathy Type 4C.

Azzedine H, LeGuern E, Salih MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Mar 31 [updated 2015 Oct 15].

14.

Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.

Vijay S, Chiu M, Dacks JB, Roberts RC.

Biochim Biophys Acta. 2016 Jul;1862(7):1279-90. doi: 10.1016/j.bbadis.2016.04.003. Epub 2016 Apr 9.

15.

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
16.

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Cipriani S, Phan V, Médard JJ, Horvath R, Lochmüller H, Chrast R, Roos A, Spendiff S.

Int J Mol Sci. 2018 Dec 17;19(12). pii: E4072. doi: 10.3390/ijms19124072.

17.

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
18.

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H.

J Hum Genet. 2018 Mar;63(3):281-287. doi: 10.1038/s10038-017-0388-5. Epub 2018 Jan 10.

PMID:
29321516
19.

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.

Schiza N, Georgiou E, Kagiava A, Médard JJ, Richter J, Tryfonos C, Sargiannidou I, Heslegrave AJ, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Chrast R, Kleopa KA.

Brain. 2019 May 1;142(5):1227-1241. doi: 10.1093/brain/awz064.

20.

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.

Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.

PMID:
21252112

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