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Items: 1 to 20 of 97

1.

Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C).

Poitelon Y, Kozlov S, Devaux J, Vallat JM, Jamon M, Roubertoux P, Rabarimeriarijaona S, Baudot C, Hamadouche T, Stewart CL, Levy N, Delague V.

Neuromolecular Med. 2012 Mar;14(1):40-52. doi: 10.1007/s12017-012-8168-z. Epub 2012 Feb 14.

PMID:
22331516
2.

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D.

Brain. 2004 Jan;127(Pt 1):154-63. Epub 2003 Nov 7.

PMID:
14607793
3.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

4.

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D.

Neuromuscul Disord. 2003 Jan;13(1):60-7.

PMID:
12467734
5.

Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease.

Grandis M, Leandri M, Vigo T, Cilli M, Sereda MW, Gherardi G, Benedetti L, Mancardi G, Abbruzzese M, Nave KA, Nobbio L, Schenone A.

Exp Neurol. 2004 Nov;190(1):213-23.

PMID:
15473994
6.

[Laminopathies: one gene, several diseases].

Bertrand AT, Chikhaoui K, Ben Yaou R, Bonne G.

Biol Aujourdhui. 2011;205(3):147-62. doi: 10.1051/jbio/2011017. Epub 2011 Oct 11. Review. French.

PMID:
21982404
7.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.

Brain. 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8.

PMID:
17347251
9.

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.

10.

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
11.

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
12.

Normal nerve striations are altered in the trembler-J mouse, a model of Charcot-Marie-Tooth disease.

Power BJ, O'reilly G, Murphy R, Murphy KJ, Pickering M, Jones JF.

Muscle Nerve. 2015 Feb;51(2):246-52. doi: 10.1002/mus.24303.

PMID:
24890015
13.

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V.

Ann Hum Genet. 2008 Sep;72(Pt 5):590-7. doi: 10.1111/j.1469-1809.2008.00456.x. Epub 2008 Jun 6.

14.

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P.

J Hum Genet. 2009 Jun;54(6):365-8. doi: 10.1038/jhg.2009.43. Epub 2009 May 8.

PMID:
19424285
15.

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.

Adlkofer K, Frei R, Neuberg DH, Zielasek J, Toyka KV, Suter U.

J Neurosci. 1997 Jun 15;17(12):4662-71.

16.

Biochemical characterization of protein quality control mechanisms during disease progression in the C22 mouse model of CMT1A.

Chittoor VG, Sooyeon L, Rangaraju S, Nicks JR, Schmidt JT, Madorsky I, Narvaez DC, Notterpek L.

ASN Neuro. 2013 Dec 3;5(5):e00128. doi: 10.1042/AN20130024.

17.

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
18.

Experimental Charcot-Marie-Tooth type 1A: a cDNA microarrays analysis.

Vigo T, Nobbio L, Hummelen PV, Abbruzzese M, Mancardi G, Verpoorten N, Verhoeven K, Sereda MW, Nave KA, Timmerman V, Schenone A.

Mol Cell Neurosci. 2005 Apr;28(4):703-14.

PMID:
15797717
19.

Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.

Perea J, Robertson A, Tolmachova T, Muddle J, King RH, Ponsford S, Thomas PK, Huxley C.

Hum Mol Genet. 2001 May 1;10(10):1007-18.

PMID:
11331611
20.

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.

Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontés M.

Nat Med. 2004 Apr;10(4):396-401. Epub 2004 Mar 21.

PMID:
15034573

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