These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. 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]
8. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Houlden H; Laura M; Ginsberg L; Jungbluth H; Robb SA; Blake J; Robinson S; King RH; Reilly MM Neuromuscul Disord; 2009 Apr; 19(4):264-9. PubMed ID: 19272779 [TBL] [Abstract][Full Text] [Related]
9. SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. Fischer C; Trajanoski S; Papić L; Windpassinger C; Bernert G; Freilinger M; Schabhüttl M; Arslan-Kirchner M; Javaher-Haghighi P; Plecko B; Senderek J; Rauscher C; Löscher WN; Pieber TR; Janecke AR; Auer-Grumbach M J Neurol; 2012 Mar; 259(3):515-23. PubMed ID: 21892769 [TBL] [Abstract][Full Text] [Related]
10. Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study. Nam DE; Park JH; Park CE; Jung NY; Nam SH; Kwon HM; Kim HS; Kim SB; Son WS; Choi BO; Chung KW J Peripher Nerv Syst; 2022 Mar; 27(1):38-49. PubMed ID: 34813128 [TBL] [Abstract][Full Text] [Related]
11. Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C. Duan X; Ma Y; Fan D; Liu X Front Neurol; 2021; 12():598168. PubMed ID: 33643188 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). Piscosquito G; Saveri P; Magri S; Ciano C; Gandioli C; Morbin M; Bella DD; Moroni I; Taroni F; Pareyson D J Peripher Nerv Syst; 2016 Sep; 21(3):142-9. PubMed ID: 27231023 [TBL] [Abstract][Full Text] [Related]
14. Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. Sun B; He ZQ; Li YR; Bai JM; Wang HR; Wang HF; Cui F; Yang F; Huang XS Acta Neurol Belg; 2022 Oct; 122(5):1169-1175. PubMed ID: 33587240 [TBL] [Abstract][Full Text] [Related]
15. Charcot-Marie-Tooth disease and related inherited neuropathies. Murakami T; Garcia CA; Reiter LT; Lupski JR Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346 [TBL] [Abstract][Full Text] [Related]
16. Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy. Lee AJ; Nam DE; Choi YJ; Nam SH; Choi BO; Chung KW Genes Genomics; 2020 Jun; 42(6):663-672. PubMed ID: 32314272 [TBL] [Abstract][Full Text] [Related]
17. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. Braathen GJ; Sand JC; Lobato A; Høyer H; Russell MB BMC Med Genet; 2010 Mar; 11():48. PubMed ID: 20350294 [TBL] [Abstract][Full Text] [Related]
18. Copy number variations in a population-based study of Charcot-Marie-Tooth disease. Høyer H; Braathen GJ; Eek AK; Nordang GB; Skjelbred CF; Russell MB Biomed Res Int; 2015; 2015():960404. PubMed ID: 25648254 [TBL] [Abstract][Full Text] [Related]
19. Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. Kontogeorgiou Z; Nikolaou K; Kartanou C; Breza M; Panas M; Karadima G; Koutsis G J Peripher Nerv Syst; 2019 Mar; 24(1):125-130. PubMed ID: 30653784 [TBL] [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]