172 related articles for article (PubMed ID: 20163430)
1. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults.
Ouvrier R; Grew S
Dev Med Child Neurol; 2010 Apr; 52(4):328-30. PubMed ID: 20163430
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 16835246
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 16437557
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 19427854
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 20008656
[TBL] [Abstract][Full Text] [Related]
6. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
Lawson VH; Graham BV; Flanigan KM
Neurology; 2005 Jul; 65(2):197-204. PubMed ID: 16043786
[TBL] [Abstract][Full Text] [Related]
7. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
8. 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; 7():53. PubMed ID: 16762064
[TBL] [Abstract][Full Text] [Related]
9. [Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].
Funalot B; Magdelaine C; Sturtz F; Ouvrier R; Vallat JM
Bull Acad Natl Med; 2009 Jan; 193(1):151-60; discussion 160-1. PubMed ID: 19718987
[TBL] [Abstract][Full Text] [Related]
10. [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; 41(4):350-4. PubMed ID: 17874344
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D; Saveri P; Sagnelli A; Piscosquito G
Neurosci Lett; 2015 Jun; 596():66-77. PubMed ID: 25847151
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 19889647
[TBL] [Abstract][Full Text] [Related]
13. Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.
Marchesi C; Ciano C; Salsano E; Nanetti L; Milani M; Gellera C; Taroni F; Fabrizi GM; Uncini A; Pareyson D
Neuromuscul Disord; 2011 Feb; 21(2):129-31. PubMed ID: 20951041
[TBL] [Abstract][Full Text] [Related]
14. 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
Neuromuscul Disord; 2011 Jun; 21(6):428-32. PubMed ID: 21531138
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 22546700
[TBL] [Abstract][Full Text] [Related]
16. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K; Claeys KG; Züchner S; Schröder JM; Weis J; Ceuterick C; Jordanova A; Nelis E; De Vriendt E; Van Hul M; Seeman P; Mazanec R; Saifi GM; Szigeti K; Mancias P; Butler IJ; Kochanski A; Ryniewicz B; De Bleecker J; Van den Bergh P; Verellen C; Van Coster R; Goemans N; Auer-Grumbach M; Robberecht W; Milic Rasic V; Nevo Y; Tournev I; Guergueltcheva V; Roelens F; Vieregge P; Vinci P; Moreno MT; Christen HJ; Shy ME; Lupski JR; Vance JM; De Jonghe P; Timmerman V
Brain; 2006 Aug; 129(Pt 8):2093-102. PubMed ID: 16714318
[TBL] [Abstract][Full Text] [Related]
17. Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.
Banchs I; Casasnovas C; Montero J; Martínez-Matos JA; Volpini V
Neuromuscul Disord; 2008 Dec; 18(12):974-8. PubMed ID: 18996695
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 20418531
[TBL] [Abstract][Full Text] [Related]
19. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Bombelli F; Stojkovic T; Dubourg O; Echaniz-Laguna A; Tardieu S; Larcher K; Amati-Bonneau P; Latour P; Vignal O; Cazeneuve C; Brice A; Leguern E
JAMA Neurol; 2014 Aug; 71(8):1036-42. PubMed ID: 24957169
[TBL] [Abstract][Full Text] [Related]
20. 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; 70(19):1678-81. PubMed ID: 18458227
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
