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Items: 1 to 20 of 96

1.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
2.

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.

Previtali SC, Quattrini A, Bolino A.

Expert Rev Mol Med. 2007 Sep 20;9(25):1-16. Review.

PMID:
17880751
3.

Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.

Robinson FL, Niesman IR, Beiswenger KK, Dixon JE.

Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4916-21. doi: 10.1073/pnas.0800742105. Epub 2008 Mar 18.

4.

An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.

Robinson DC, Mammel AE, Logan AM, Larson AA, Schmidt EJ, Condon AF, Robinson FL.

ASN Neuro. 2018 Jan-Dec;10:1759091418803282. doi: 10.1177/1759091418803282.

5.

Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.

Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka KV, Young P, Suter U.

Hum Mol Genet. 2007 Dec 15;16(24):2991-3001. Epub 2007 Sep 12.

PMID:
17855448
6.
7.

Charcot-Marie-Tooth Neuropathy Type 4.

Bird TD.

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.
1998 Sep 24 [updated 2016 Apr 14].

8.

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.

Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8.

9.

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K.

Hum Mol Genet. 2003 Feb 1;12(3):349-56. Erratum in: Hum Mol Genet. 2004 Feb 1;13(3):363.

PMID:
12554688
10.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
12.

Mild phenotype of Charcot-Marie-Tooth disease type 4B1.

Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y.

J Neurol Sci. 2013 Nov 15;334(1-2):176-9. doi: 10.1016/j.jns.2013.08.001. Epub 2013 Aug 9.

PMID:
23962696
13.

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Romani M, Mehawej C, Mazza T, Mégarbané A, Valente EM.

Neurol Genet. 2016 Mar 3;2(2):e61. doi: 10.1212/NXG.0000000000000061. eCollection 2016 Apr.

14.

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A.

J Neurosci. 2005 Sep 14;25(37):8567-77.

15.

Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.

Bolis A, Zordan P, Coviello S, Bolino A.

Mol Neurobiol. 2007 Jun;35(3):308-16. Review.

PMID:
17917119
16.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

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

PMID:
23106488
17.

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.

Nakhro K, Park JM, Hong YB, Park JH, Nam SH, Yoon BR, Yoo JH, Koo H, Jung SC, Kim HL, Kim JY, Choi KG, Choi BO, Chung KW.

Neurology. 2013 Jul 9;81(2):165-73. doi: 10.1212/WNL.0b013e31829a3421. Epub 2013 Jun 7.

PMID:
23749797
18.

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

Berger P, Bonneick S, Willi S, Wymann M, Suter U.

Hum Mol Genet. 2002 Jun 15;11(13):1569-79.

PMID:
12045210
19.

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.

Negrão L, Almendra L, Ribeiro J, Matos A, Geraldo A, Pinto-Basto J.

Acta Myol. 2014 Dec;33(3):144-8.

20.

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