288 related articles for article (PubMed ID: 29361379)
1. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
Iapadre G; Morana G; Vari MS; Pinto F; Lanteri P; Tessa A; Santorelli FM; Striano P; Verrotti A
Eur J Paediatr Neurol; 2018 May; 22(3):563-567. PubMed ID: 29361379
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
Tan CA; Rabideau M; Blevins A; Westbrook MJ; Ekstein T; Nykamp K; Deucher A; Harper A; Demmer L
Am J Med Genet A; 2016 Jun; 170(6):1580-4. PubMed ID: 26955893
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [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]
6. Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.
Di Meglio C; Bonello-Palot N; Boulay C; Milh M; Ovaert C; Levy N; Chabrol B
Brain Dev; 2016 May; 38(5):498-506. PubMed ID: 26686600
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando M; Hashiguchi A; Okamoto Y; Yoshimura A; Hiramatsu Y; Yuan J; Higuchi Y; Mitsui J; Ishiura H; Umemura A; Maruyama K; Matsushige T; Morishita S; Nakagawa M; Tsuji S; Takashima H
J Peripher Nerv Syst; 2017 Sep; 22(3):191-199. PubMed ID: 28660751
[TBL] [Abstract][Full Text] [Related]
10. Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.
Wu R; Fu J; Meng L; Lv H; Wang Z; Yuan Y
Neuropathology; 2018 Oct; 38(5):463-467. PubMed ID: 30011089
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Dankwa L; Richardson J; Motley WW; Züchner S; Scherer SS
J Peripher Nerv Syst; 2018 Mar; 23(1):36-39. PubMed ID: 29341354
[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. Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family.
Al-Harbi TM; Abdulmana SO; Bashir S; Dridi W
J Clin Neuromuscul Dis; 2019 Sep; 21(1):25-29. PubMed ID: 31453851
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
Dankwa L; Richardson J; Motley WW; Scavina M; Courel S; Bardakjian T; Züchner S; Scherer SS
Neuromuscul Disord; 2019 Feb; 29(2):134-137. PubMed ID: 30642740
[TBL] [Abstract][Full Text] [Related]
18. Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.
Martikainen MH; Kytövuori L; Majamaa K
Neuromuscul Disord; 2014 Apr; 24(4):360-4. PubMed ID: 24530046
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G; Boaretto F; Briani C; Pegoraro E; Cacciavillani M; Martinuzzi A; Muglia M; Vettori A; Vazza G; Mostacciuolo ML
Neuromolecular Med; 2014 Sep; 16(3):540-50. PubMed ID: 24819634
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]