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Items: 1 to 20 of 194

1.

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.

Vavlitou N, Sargiannidou I, Markoullis K, Kyriacou K, Scherer SS, Kleopa KA.

J Neuropathol Exp Neurol. 2010 Sep;69(9):945-58. doi: 10.1097/NEN.0b013e3181efa658.

2.

Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

Sargiannidou I, Kagiava A, Bashiardes S, Richter J, Christodoulou C, Scherer SS, Kleopa KA.

Ann Neurol. 2015 Aug;78(2):303-16. doi: 10.1002/ana.24441. Epub 2015 Jun 30.

PMID:
26010264
3.

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.

Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, Jeng LJ.

J Neurosci. 2005 Feb 9;25(6):1550-9.

4.

X-linked Charcot-Marie-Tooth disease.

Scherer SS, Kleopa KA.

J Peripher Nerv Syst. 2012 Dec;17 Suppl 3:9-13. doi: 10.1111/j.1529-8027.2012.00424.x. Review.

5.

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
6.

Molecular genetics of X-linked Charcot-Marie-Tooth disease.

Kleopa KA, Scherer SS.

Neuromolecular Med. 2006;8(1-2):107-22. Review.

PMID:
16775370
7.

Connexins, gap junctions and peripheral neuropathy.

Kleopa KA, Sargiannidou I.

Neurosci Lett. 2015 Jun 2;596:27-32. doi: 10.1016/j.neulet.2014.10.033. Epub 2014 Oct 24. Review.

PMID:
25449862
8.

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
9.
10.

How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Kleopa KA, Abrams CK, Scherer SS.

Brain Res. 2012 Dec 3;1487:198-205. doi: 10.1016/j.brainres.2012.03.068. Epub 2012 Jul 6. Review.

11.

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.

12.

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, Wood NW, Reilly MM.

J Neurol Neurosurg Psychiatry. 2002 Sep;73(3):304-6.

13.

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
14.

Cell-Surface and Secreted Isoforms of CSF-1 Exert Opposing Roles in Macrophage-Mediated Neural Damage in Cx32-Deficient Mice.

Groh J, Basu R, Stanley ER, Martini R.

J Neurosci. 2016 Feb 10;36(6):1890-901. doi: 10.1523/JNEUROSCI.3427-15.2016.

15.

Axonal damage and demyelination in long-term dorsal root ganglia cultures from a rat model of Charcot-Marie-Tooth type 1A disease.

Nobbio L, Gherardi G, Vigo T, Passalacqua M, Melloni E, Abbruzzese M, Mancardi G, Nave KA, Schenone A.

Eur J Neurosci. 2006 Mar;23(6):1445-52.

PMID:
16553608
16.

GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.

Abrams CK, Freidin M.

Cell Tissue Res. 2015 Jun;360(3):659-73. doi: 10.1007/s00441-014-2014-6. Epub 2014 Nov 5. Review.

PMID:
25370202
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.

Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X.

Groh J, Heinl K, Kohl B, Wessig C, Greeske J, Fischer S, Martini R.

Hum Mol Genet. 2010 Sep 15;19(18):3530-43. doi: 10.1093/hmg/ddq269. Epub 2010 Jun 30.

PMID:
20591826
19.

Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.

Lee SM, Sha D, Mohammed AA, Asress S, Glass JD, Chin LS, Li L.

Hum Mol Genet. 2013 May 1;22(9):1755-70. doi: 10.1093/hmg/ddt022. Epub 2013 Jan 28.

20.

Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes.

Morelli KH, Seburn KL, Schroeder DG, Spaulding EL, Dionne LA, Cox GA, Burgess RW.

Cell Rep. 2017 Mar 28;18(13):3178-3191. doi: 10.1016/j.celrep.2017.03.009.

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