143 related articles for article (PubMed ID: 30807887)
1. 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]
2. Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.
Xu J; Wang Y; He J; Xia W; Zou Y; Ruan W; Lou Q; Li Y; Li H; Chen W
Stem Cell Res; 2019 Mar; 35():101407. PubMed ID: 30785048
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Rizzo F; Bono S; Ruepp MD; Salani S; Ottoboni L; Abati E; Melzi V; Cordiglieri C; Pagliarani S; De Gioia R; Anastasia A; Taiana M; Garbellini M; Lodato S; Kunderfranco P; Cazzato D; Cartelli D; Lonati C; Bresolin N; Comi G; Nizzardo M; Corti S
Cell Mol Life Sci; 2023 Nov; 80(12):373. PubMed ID: 38007410
[TBL] [Abstract][Full Text] [Related]
5. Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B).
Son D; Kang PJ; Yun W; You S
Stem Cell Res; 2017 Oct; 24():5-7. PubMed ID: 29034895
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
Saporta MA; Dang V; Volfson D; Zou B; Xie XS; Adebola A; Liem RK; Shy M; Dimos JT
Exp Neurol; 2015 Jan; 263():190-9. PubMed ID: 25448007
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX).
Son D; Kang PJ; Yun W; You S
Stem Cell Res; 2017 May; 21():9-12. PubMed ID: 28677541
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A.
McCray BA; Hurst W; Crawford TO; Lloyd TE
Muscle Nerve; 2018 May; 57(5):E126-E128. PubMed ID: 29266326
[No Abstract] [Full Text] [Related]
16. 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]
17. 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]
18. 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. PubMed ID: 31127728
[TBL] [Abstract][Full Text] [Related]
19. Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene.
Ababneh NA; Ali D; Barham R; Al-Kurdi B; Sharar N; Al Hadidi S; Qanno' O; Ryalat AT; Salah B; Awidi A
Stem Cell Res; 2020 Oct; 48():101967. PubMed ID: 32916636
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 15549395
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
