462 related articles for article (PubMed ID: 32314272)
21. INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Park JH; Kwon HM; Nam DE; Kim HJ; Nam SH; Kim SB; Choi BO; Chung KW
J Peripher Nerv Syst; 2023 Mar; 28(1):108-118. PubMed ID: 36637069
[TBL] [Abstract][Full Text] [Related]
22. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
[TBL] [Abstract][Full Text] [Related]
23. Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
Lee HJ; Park J; Nakhro K; Park JM; Hur YM; Choi BO; Chung KW
J Peripher Nerv Syst; 2012 Dec; 17(4):418-21. PubMed ID: 23279345
[TBL] [Abstract][Full Text] [Related]
24. A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.
Yalcouyé A; Diallo SH; Coulibaly T; Cissé L; Diallo S; Samassékou O; Diarra S; Coulibaly D; Keita M; Guinto CO; Fischbeck K; Landouré G;
Mol Genet Genomic Med; 2019 Jul; 7(7):e00782. PubMed ID: 31173493
[TBL] [Abstract][Full Text] [Related]
25. Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.
Nan H; Takaki R; Hata T; Ichinose Y; Tsuchiya M; Koh K; Takiyama Y
J Peripher Nerv Syst; 2019 Mar; 24(1):156-160. PubMed ID: 30394614
[TBL] [Abstract][Full Text] [Related]
26. Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.
Ma Z; Lv H; Zhang H; Wang H; Li J; Yu M; Zhu Y; Huang D; Meng L; Yuan Y
Neuropathology; 2022 Dec; 42(6):505-511. PubMed ID: 35723632
[TBL] [Abstract][Full Text] [Related]
27. Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
Luigetti M; Fabrizi GM; Bisogni G; Romano A; Taioli F; Ferrarini M; Bernardo D; Rossini PM; Sabatelli M
Clin Neurol Neurosurg; 2016 May; 144():67-71. PubMed ID: 26989944
[TBL] [Abstract][Full Text] [Related]
28. Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.
Ando M; Okamoto Y; Yoshimura A; Yuan JH; Hiramatsu Y; Higuchi Y; Hashiguchi A; Mitsui J; Ishiura H; Fukumura S; Matsushima M; Ochi N; Tsugawa J; Morishita S; Tsuji S; Takashima H
Eur J Neurol; 2017 Oct; 24(10):1274-1282. PubMed ID: 28771897
[TBL] [Abstract][Full Text] [Related]
29. Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.
Nam DE; Yoo DH; Choi SS; Choi BO; Chung KW
Genes Genomics; 2018 Jan; 40(1):77-84. PubMed ID: 29892902
[TBL] [Abstract][Full Text] [Related]
30. Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.
Nam DE; Nam SH; Lee AJ; Hong YB; Choi BO; Chung KW
J Peripher Nerv Syst; 2018 Mar; 23(1):60-66. PubMed ID: 29341343
[TBL] [Abstract][Full Text] [Related]
31. CMT type 2N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid.
Tatsumi Y; Matsumoto N; Iibe N; Watanabe N; Torii T; Sango K; Homma K; Miyamoto Y; Sakagami H; Yamauchi J
Neurosci Res; 2019 Feb; 139():69-78. PubMed ID: 30261202
[TBL] [Abstract][Full Text] [Related]
32. Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.
Kim HJ; Nam SH; Kwon HM; Lim SO; Park JH; Kim HS; Kim SB; Lee KS; Lee JE; Choi BO; Chung KW
Mol Genet Genomic Med; 2021 Jun; 9(6):e1678. PubMed ID: 33825325
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
Solla P; Vannelli A; Bolino A; Marrosu G; Coviello S; Murru MR; Tranquilli S; Corongiu D; Benedetti S; Marrosu MG
J Neurol Neurosurg Psychiatry; 2010 Sep; 81(9):958-62. PubMed ID: 20660910
[TBL] [Abstract][Full Text] [Related]
35. Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.
Bian X; Lin P; Li J; Long F; Duan R; Yuan Q; Li Y; Gao F; Gao S; Wei S; Li X; Sun W; Gong Y; Yan C; Liu Q
Neurodegener Dis; 2018; 18(2-3):74-83. PubMed ID: 29587262
[TBL] [Abstract][Full Text] [Related]
36. DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
Hong YB; Kang J; Kim JH; Lee J; Kwak G; Hyun YS; Nam SH; Hong HD; Choi YR; Jung SC; Koo H; Lee JE; Choi BO; Chung KW
Hum Mutat; 2016 May; 37(5):473-80. PubMed ID: 26786738
[TBL] [Abstract][Full Text] [Related]
37. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Kim HJ; Hong YB; Park JM; Choi YR; Kim YJ; Yoon BR; Koo H; Yoo JH; Kim SB; Park M; Chung KW; Choi BO
Orphanet J Rare Dis; 2013 Jul; 8():104. PubMed ID: 23844677
[TBL] [Abstract][Full Text] [Related]
38. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
Hong YB; Lee JH; Park JM; Choi YR; Hyun YS; Yoon BR; Yoo JH; Koo H; Jung SC; Chung KW; Choi BO
BMC Med Genet; 2013 Dec; 14():125. PubMed ID: 24314034
[TBL] [Abstract][Full Text] [Related]
39. GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
Figueiredo FB; Silva WA; Giuliatti S; Tomaselli PJ; Lourenço CM; Gouvêa SP; Covaleski APPM; Hallak JE; Marques W
Neuromuscul Disord; 2021 Jun; 31(6):505-511. PubMed ID: 33903021
[TBL] [Abstract][Full Text] [Related]
40. A novel AARS mutation in a family with dominant myeloneuropathy.
Motley WW; Griffin LB; Mademan I; Baets J; De Vriendt E; De Jonghe P; Antonellis A; Jordanova A; Scherer SS
Neurology; 2015 May; 84(20):2040-7. PubMed ID: 25904691
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]