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Items: 1 to 20 of 94

1.

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.

Boaretto F, Vettori A, Casarin A, Vazza G, Muglia M, Rossetto MG, Cavallaro T, Rizzuto N, Carelli V, Salviati L, Mostacciuolo ML, Martinuzzi A.

Neurology. 2010 Jun 8;74(23):1919-21. doi: 10.1212/WNL.0b013e3181e240f9. No abstract available.

PMID:
20530328
2.

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

McCorquodale DS 3rd, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S.

J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22.

3.

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.

Cassereau J, Casasnovas C, Gueguen N, Malinge MC, Guillet V, Reynier P, Bonneau D, Amati-Bonneau P, Banchs I, Volpini V, Procaccio V, Chevrollier A.

Neurology. 2011 Apr 26;76(17):1524-6. doi: 10.1212/WNL.0b013e318217e77d. No abstract available.

PMID:
21519004
4.

A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease.

Wang YW, Han WT, Jiang M, Lu CX, Li XF, Zhang X, Li JX.

Genet Mol Res. 2012 May 18;11(2):1454-9. doi: 10.4238/2012.May.18.5.

5.

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

Zhu D, Kennerson ML, Walizada G, Züchner S, Vance JM, Nicholson GA.

Neurology. 2005 Aug 9;65(3):496-7. No abstract available.

PMID:
16087932
6.

A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.

Park SY, Kim SY, Hong YH, Cho SI, Seong MW, Park SS.

Neurogenetics. 2012 Aug;13(3):275-80. doi: 10.1007/s10048-012-0327-8. Epub 2012 Apr 20.

PMID:
22526351
7.

[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].

Sołtysińska E, Kabzińska D, Kochański A.

Neurol Neurochir Pol. 2007 Jul-Aug;41(4):350-4. Review. Polish.

PMID:
17874344
8.

Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.

Klein CJ, Kimmel GW, Pittock SJ, Engelstad JE, Cunningham JM, Wu Y, Dyck PJ.

Arch Neurol. 2011 Oct;68(10):1295-302. doi: 10.1001/archneurol.2011.225.

9.

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

Polke JM, Laurá M, Pareyson D, Taroni F, Milani M, Bergamin G, Gibbons VS, Houlden H, Chamley SC, Blake J, Devile C, Sandford R, Sweeney MG, Davis MB, Reilly MM.

Neurology. 2011 Jul 12;77(2):168-73. doi: 10.1212/WNL.0b013e3182242d4d. Epub 2011 Jun 29.

10.

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, Ogawa M, Ishizaki Y, Kitamura T, Shozawa Y, Hayasaka K.

Hum Genet. 2005 Jan;116(1-2):23-7. Epub 2004 Nov 11.

PMID:
15549395
11.

Phenotype of Charcot-Marie-Tooth disease Type 2.

Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M.

Neurology. 2007 May 15;68(20):1658-67.

PMID:
17502546
12.

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.

13.

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.

J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1286-7. No abstract available.

14.

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
15.

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB.

BMC Med Genet. 2010 Mar 29;11:48. doi: 10.1186/1471-2350-11-48.

16.

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT, Meins M.

BMC Med Genet. 2006 Jun 8;7:53.

17.

Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).

Lin HP, Ho KWD, Jerath NU.

J Neuromuscul Dis. 2019;6(2):259-261. doi: 10.3233/JND-190384.

PMID:
31127728
18.

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
19.

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

Genari AB, Borghetti VH, Gouvêa SP, Bueno KC, dos Santos PL, dos Santos AC, Barreira AA, Lourenço CM, Marques W Jr.

Neuromuscul Disord. 2011 Jun;21(6):428-32. doi: 10.1016/j.nmd.2011.03.008. Epub 2011 Apr 29.

PMID:
21531138
20.

A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

Choi BO, Nakhro K, Park HJ, Hyun YS, Lee JH, Kanwal S, Jung SC, Chung KW.

Clin Genet. 2015 Jun;87(6):594-8. doi: 10.1111/cge.12432. Epub 2014 Jun 18.

PMID:
24863639

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