122 related articles for article (PubMed ID: 37116346)
1. Corrigendum to "Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2" [Stem Cell Res. 36C (2019) 101411].
Xu J; Fu Y; Xia W; He J; Zou Y; Ruan W; Lou Q; Li Y; Pan J; Li H; Chen W
Stem Cell Res; 2023 Jun; 69():103107. PubMed ID: 37116346
[No Abstract] [Full Text] [Related]
2. Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2.
Xu J; Fu Y; Xia W; He J; Zou Y; Ruan W; Lou Q; Li Y; Pan J; Li H; Chen W
Stem Cell Res; 2019 Apr; 36():101411. PubMed ID: 30807887
[TBL] [Abstract][Full Text] [Related]
3. Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.
Zanfardino P; Amati A; Petracca EA; Santorelli FM; Petruzzella V
Acta Myol; 2022; 41(4):201-206. PubMed ID: 36793649
[TBL] [Abstract][Full Text] [Related]
4. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M; Feely SME; Polke JM; Skorupinska M; Perez L; Shy RR; Laura M; Morrow JM; Moroni I; Pisciotta C; Taroni F; Vujovic D; Lloyd TE; Acsadi G; Yum SW; Lewis RA; Finkel RS; Herrmann DN; Day JW; Li J; Saporta M; Sadjadi R; Walk D; Burns J; Muntoni F; Ramchandren S; Horvath R; Johnson NE; Züchner S; Pareyson D; Scherer SS; Rossor AM; Shy ME; Reilly MM;
Brain; 2020 Dec; 143(12):3589-3602. PubMed ID: 33415332
[TBL] [Abstract][Full Text] [Related]
5. Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
Tufano M; Cappuccio G; Terrone G; Manganelli F; Pisciotta C; Geroldi A; Capponi S; Del Giudice E
J Peripher Nerv Syst; 2015 Dec; 20(4):415-8. PubMed ID: 26307494
[TBL] [Abstract][Full Text] [Related]
6. A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.
Lv H; Wang L; Zhang W; Wang Z; Zuo Y; Liu J; Yuan Y
J Neurol Sci; 2015 Nov; 358(1-2):153-7. PubMed ID: 26382835
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 24803844
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Finding a new balance to cure Charcot-Marie-Tooth 2A.
Iwata K; Scorrano L
J Clin Invest; 2019 Mar; 129(4):1533-1535. PubMed ID: 30882369
[TBL] [Abstract][Full Text] [Related]
10. Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
Rizzo F; Ronchi D; Salani S; Nizzardo M; Fortunato F; Bordoni A; Stuppia G; Del Bo R; Piga D; Fato R; Bresolin N; Comi GP; Corti S
Hum Mol Genet; 2016 Oct; 25(19):4266-4281. PubMed ID: 27506976
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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. PubMed ID: 24863639
[TBL] [Abstract][Full Text] [Related]
13. Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.
Ababneh NA; Barham R; Al-Kurdi B; Ali D; Hadidi SA; A Ismail M; Muamar ASH; Abdulelah AA; Madadha A; Sallam M; Hassona Y; Masri A; Awidi A
Stem Cell Res; 2022 Jul; 62():102786. PubMed ID: 35468369
[TBL] [Abstract][Full Text] [Related]
14. MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model.
Shahin S; Lu B; Zhou Y; Xu H; Chetsawang J; Baloh RH; Wang S
iScience; 2023 Mar; 26(3):106270. PubMed ID: 36936780
[TBL] [Abstract][Full Text] [Related]
15. Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Zanfardino P; Longo G; Amati A; Morani F; Picardi E; Girolamo F; Pafundi M; Cox SN; Manzari C; Tullo A; Doccini S; Santorelli FM; Petruzzella V
Hum Mol Genet; 2023 Jan; 32(2):333-350. PubMed ID: 35994048
[TBL] [Abstract][Full Text] [Related]
16. Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
Franco A; Dang X; Walton EK; Ho JN; Zablocka B; Ly C; Miller TM; Baloh RH; Shy ME; Yoo AS; Dorn GW
Elife; 2020 Oct; 9():. PubMed ID: 33074106
[TBL] [Abstract][Full Text] [Related]
17. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort.
Ma Y; Sun A; Zhang Y; Fan D; Liu X
Front Neurol; 2021; 12():757518. PubMed ID: 34721278
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]
