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Items: 1 to 20 of 270

1.

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.

Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME.

Brain. 2012 Jul;135(Pt 7):2032-47. doi: 10.1093/brain/aws140. Epub 2012 Jun 10.

2.

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

Patzkó A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME.

Brain. 2012 Dec;135(Pt 12):3551-66. doi: 10.1093/brain/aws299. Erratum in: Brain. 2014 Dec;137(Pt 12):e316.

3.

Regulation of myelin-specific gene expression. Relevance to CMT1.

Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M.

Ann N Y Acad Sci. 1999 Sep 14;883:91-108. Review.

PMID:
10586235
4.

Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse.

Sidoli M, Musner N, Silvestri N, Ungaro D, D'Antonio M, Cavener DR, Feltri ML, Wrabetz L.

J Neurosci. 2016 Nov 2;36(44):11350-11361.

5.

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.

Horn M, Baumann R, Pereira JA, Sidiropoulos PN, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U.

Brain. 2012 Dec;135(Pt 12):3567-83. doi: 10.1093/brain/aws275. Epub 2012 Nov 20.

6.

Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice.

Klein D, Patzkó Á, Schreiber D, van Hauwermeiren A, Baier M, Groh J, West BL, Martini R.

Brain. 2015 Nov;138(Pt 11):3193-205. doi: 10.1093/brain/awv240. Epub 2015 Aug 21.

PMID:
26297559
7.

Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.

Rünker AE, Kobsar I, Fink T, Loers G, Tilling T, Putthoff P, Wessig C, Martini R, Schachner M.

J Cell Biol. 2004 May 24;165(4):565-73. Epub 2004 May 17.

8.

Perk Ablation Ameliorates Myelination in S63del-Charcot-Marie-Tooth 1B Neuropathy.

Musner N, Sidoli M, Zambroni D, Del Carro U, Ungaro D, D'Antonio M, Feltri ML, Wrabetz L.

ASN Neuro. 2016 Apr 19;8(2). pii: 1759091416642351. doi: 10.1177/1759091416642351. Print 2016 Mar-Apr.

9.

Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice.

D'Antonio M, Musner N, Scapin C, Ungaro D, Del Carro U, Ron D, Feltri ML, Wrabetz L.

J Exp Med. 2013 Apr 8;210(4):821-38. doi: 10.1084/jem.20122005. Epub 2013 Apr 1.

10.

Peripheral nerve dysmyelination due to P0 glycoprotein overexpression is dose-dependent.

Quattrini A, Feltri ML, Previtali S, Fasolini M, Messing A, Wrabetz L.

Ann N Y Acad Sci. 1999 Sep 14;883:294-301.

PMID:
10586254
11.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

12.

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

Fledrich R, Schlotter-Weigel B, Schnizer TJ, Wichert SP, Stassart RM, Meyer zu Hörste G, Klink A, Weiss BG, Haag U, Walter MC, Rautenstrauss B, Paulus W, Rossner MJ, Sereda MW.

Brain. 2012 Jan;135(Pt 1):72-87. doi: 10.1093/brain/awr322. Epub 2011 Dec 20.

PMID:
22189569
13.

The alpha-chemokine CXCL14 is up-regulated in the sciatic nerve of a mouse model of Charcot-Marie-Tooth disease type 1A and alters myelin gene expression in cultured Schwann cells.

Barbaria EM, Kohl B, Buhren BA, Hasenpusch-Theil K, Kruse F, Küry P, Martini R, Müller HW.

Neurobiol Dis. 2009 Mar;33(3):448-58. doi: 10.1016/j.nbd.2008.11.014. Epub 2008 Dec 10.

PMID:
19111616
14.
15.

Functional recovery of regenerating motor axons is delayed in mice heterozygously deficient for the myelin protein P(0) gene.

Rosberg MR, Alvarez S, Krarup C, Moldovan M.

Neurochem Res. 2013 Jun;38(6):1266-77. doi: 10.1007/s11064-013-1030-3. Epub 2013 Apr 7.

PMID:
23564290
16.

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan.

Brain. 2003 Jan;126(Pt 1):134-51. Review.

PMID:
12477701
17.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

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

PMID:
23106488
18.

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.

Niemann A, Berger P, Suter U.

Neuromolecular Med. 2006;8(1-2):217-42. Review.

PMID:
16775378
19.

c-Jun activation in Schwann cells protects against loss of sensory axons in inherited neuropathy.

Hantke J, Carty L, Wagstaff LJ, Turmaine M, Wilton DK, Quintes S, Koltzenburg M, Baas F, Mirsky R, Jessen KR.

Brain. 2014 Nov;137(Pt 11):2922-37. doi: 10.1093/brain/awu257. Epub 2014 Sep 12.

20.

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice.

Pennuto M, Tinelli E, Malaguti M, Del Carro U, D'Antonio M, Ron D, Quattrini A, Feltri ML, Wrabetz L.

Neuron. 2008 Feb 7;57(3):393-405. doi: 10.1016/j.neuron.2007.12.021.

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