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Items: 1 to 20 of 146

1.

An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle.

Drögemüller C, Reichart U, Seuberlich T, Oevermann A, Baumgartner M, Kühni Boghenbor K, Stoffel MH, Syring C, Meylan M, Müller S, Müller M, Gredler B, Sölkner J, Leeb T.

PLoS One. 2011 Apr 15;6(4):e18931. doi: 10.1371/journal.pone.0018931.

2.

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, Vallat JM, Ouvrier RA.

Neurology. 2008 May 6;70(19):1678-81. doi: 10.1212/01.wnl.0000311275.89032.22.

PMID:
18458227
3.

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.

Lawson VH, Graham BV, Flanigan KM.

Neurology. 2005 Jul 26;65(2):197-204.

PMID:
16043786
4.

Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.

Murgiano L, Jagannathan V, Benazzi C, Bolcato M, Brunetti B, Muscatello LV, Dittmer K, Piffer C, Gentile A, Drögemüller C.

PLoS One. 2014 Apr 14;9(4):e94861. doi: 10.1371/journal.pone.0094861. eCollection 2014. Erratum in: PLoS One. 2014;9(7):e102928.

5.

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

Baloh RH, Schmidt RE, Pestronk A, Milbrandt J.

J Neurosci. 2007 Jan 10;27(2):422-30.

6.

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.

Brain. 2006 Aug;129(Pt 8):2103-18. Epub 2006 Jul 10.

PMID:
16835246
7.

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Murgiano L, Jagannathan V, Piffer C, Diez-Prieto I, Bolcato M, Gentile A, Drögemüller C.

BMC Vet Res. 2016 Dec 5;12(1):276.

8.
9.

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.

Kotruchow K, Kabzińska D, Hausmanowa-Petrusewicz I, Kochański A.

Acta Myol. 2013 Dec;32(3):166-9.

10.

Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2.

McClure M, Kim E, Bickhart D, Null D, Cooper T, Cole J, Wiggans G, Ajmone-Marsan P, Colli L, Santus E, Liu GE, Schroeder S, Matukumalli L, Van Tassell C, Sonstegard T.

PLoS One. 2013;8(3):e59251. doi: 10.1371/journal.pone.0059251. Epub 2013 Mar 20.

11.

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.

Cartoni R, Arnaud E, Médard JJ, Poirot O, Courvoisier DS, Chrast R, Martinou JC.

Brain. 2010 May;133(Pt 5):1460-9. doi: 10.1093/brain/awq082.

PMID:
20418531
12.

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

Stuppia G, Rizzo F, Riboldi G, Del Bo R, Nizzardo M, Simone C, Comi GP, Bresolin N, Corti S.

J Neurol Sci. 2015 Sep 15;356(1-2):7-18. doi: 10.1016/j.jns.2015.05.033. Epub 2015 May 29. Review.

PMID:
26143526
13.

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V.

J Med Genet. 2010 Apr;47(4):249-56. doi: 10.1136/jmg.2009.072488. Epub 2009 Nov 3.

PMID:
19889647
14.
15.

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.

Martikainen MH, Kytövuori L, Majamaa K.

Neuromuscul Disord. 2014 Apr;24(4):360-4. doi: 10.1016/j.nmd.2014.01.007. Epub 2014 Jan 27.

PMID:
24530046
16.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
17.

A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C.

Neuromuscul Disord. 2012 Aug;22(8):735-41. doi: 10.1016/j.nmd.2012.04.001. Epub 2012 Apr 28.

PMID:
22546700
18.

Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.

Cartoni R, Martinou JC.

Exp Neurol. 2009 Aug;218(2):268-73. doi: 10.1016/j.expneurol.2009.05.003. Epub 2009 May 8. Review.

PMID:
19427854
19.

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C.

Arch Neurol. 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284.

PMID:
20008656
20.

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM.

Ann Neurol. 2006 Feb;59(2):276-81.

PMID:
16437557

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