PubMed (OMIM) for id: 934692

Year	Number of Results
1993	1
1996	1
1997	2
2001	2
2003	3
2004	3
2005	2
2023	0

1

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. Zhu D, et al. Neurology. 2005 Aug 9;65(3):496-7. doi: 10.1212/01.wnl.0000171345.62270.29. Neurology. 2005. PMID: 16087932 No abstract available.

2

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. Kijima K, et al. Hum Genet. 2005 Jan;116(1-2):23-7. doi: 10.1007/s00439-004-1199-2. Epub 2004 Nov 11. Hum Genet. 2005. PMID: 15549395

3

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.

Bissar-Tadmouri N, Nelis E, Züchner S, Parman Y, Deymeer F, Serdaroglu P, De Jonghe P, Van Gerwen V, Timmerman V, Schröder JM, Battaloglu E. Bissar-Tadmouri N, et al. Neurology. 2004 May 11;62(9):1522-5. doi: 10.1212/01.wnl.0000123253.57555.3a. Neurology. 2004. PMID: 15136675

4

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Züchner S, et al. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.

5

CMT with pyramidal features. Charcot-Marie-Tooth.

Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA. Vucic S, et al. Neurology. 2003 Feb 25;60(4):696-9. doi: 10.1212/01.wnl.0000048561.61921.71. Neurology. 2003. PMID: 12601114

6

Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity.

Bach D, Pich S, Soriano FX, Vega N, Baumgartner B, Oriola J, Daugaard JR, Lloberas J, Camps M, Zierath JR, Rabasa-Lhoret R, Wallberg-Henriksson H, Laville M, Palacín M, Vidal H, Rivera F, Brand M, Zorzano A. Bach D, et al. J Biol Chem. 2003 May 9;278(19):17190-7. doi: 10.1074/jbc.M212754200. Epub 2003 Feb 21. J Biol Chem. 2003. PMID: 12598526 Free article.

7

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development.

Chen H, Detmer SA, Ewald AJ, Griffin EE, Fraser SE, Chan DC. Chen H, et al. J Cell Biol. 2003 Jan 20;160(2):189-200. doi: 10.1083/jcb.200211046. Epub 2003 Jan 13. J Cell Biol. 2003. PMID: 12527753 Free PMC article.

8

Control of mitochondrial morphology by a human mitofusin.

Santel A, Fuller MT. Santel A, et al. J Cell Sci. 2001 Mar;114(Pt 5):867-74. doi: 10.1242/jcs.114.5.867. J Cell Sci. 2001. PMID: 11181170

9

Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.

Muglia M, Zappia M, Timmerman V, Valentino P, Gabriele AL, Conforti FL, De Jonghe P, Ragno M, Mazzei R, Sabatelli M, Nicoletti G, Patitucci AM, Oliveri RL, Bono F, Gambardella A, Quattrone A. Muglia M, et al. Neurology. 2001 Jan 9;56(1):100-3. doi: 10.1212/wnl.56.1.100. Neurology. 2001. PMID: 11148244

10

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM, Wolpert CM, Slotterbeck BD, Saito M, Tim RW, Rozear MP, Middleton LT, Tsuji S, Vance JM. Pericak-Vance MA, et al. Neurogenetics. 1997 Sep;1(2):89-93. doi: 10.1007/s100480050013. Neurogenetics. 1997. PMID: 10732809

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