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10. 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]
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12. 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]
13. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Fridman V; Bundy B; Reilly MM; Pareyson D; Bacon C; Burns J; Day J; Feely S; Finkel RS; Grider T; Kirk CA; Herrmann DN; Laurá M; Li J; Lloyd T; Sumner CJ; Muntoni F; Piscosquito G; Ramchandren S; Shy R; Siskind CE; Yum SW; Moroni I; Pagliano E; Zuchner S; Scherer SS; Shy ME; J Neurol Neurosurg Psychiatry; 2015 Aug; 86(8):873-8. PubMed ID: 25430934 [TBL] [Abstract][Full Text] [Related]
14. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Hattori N; Yamamoto M; Yoshihara T; Koike H; Nakagawa M; Yoshikawa H; Ohnishi A; Hayasaka K; Onodera O; Baba M; Yasuda H; Saito T; Nakashima K; Kira J; Kaji R; Oka N; Sobue G; Brain; 2003 Jan; 126(Pt 1):134-51. PubMed ID: 12477701 [TBL] [Abstract][Full Text] [Related]
15. [The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease]. Liu X; Zhang RX; Liu L; Xie YZ; Lin ZQ; Zhao Q; Cao WQ; Zhu XY; Li XB Zhonghua Yi Xue Za Zhi; 2021 Jan; 101(2):131-136. PubMed ID: 33455129 [No Abstract] [Full Text] [Related]
16. Natural history of Charcot-Marie-Tooth disease during childhood. Cornett KMD; Menezes MP; Shy RR; Moroni I; Pagliano E; Pareyson D; Estilow T; Yum SW; Bhandari T; Muntoni F; Laura M; Reilly MM; Finkel RS; Eichinger KJ; Herrmann DN; Bray P; Halaki M; Shy ME; Burns J; Ann Neurol; 2017 Sep; 82(3):353-359. PubMed ID: 28796392 [TBL] [Abstract][Full Text] [Related]
17. Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. Guimarães-Costa R; Iancu Ferfoglia R; Leonard-Louis S; Ziegler F; Magy L; Fournier E; Dubourg O; Bouche P; Maisonobe T; Lacour A; Moerman A; Latour P; Stojkovic T Eur J Neurol; 2017 Mar; 24(3):530-538. PubMed ID: 28211240 [TBL] [Abstract][Full Text] [Related]
18. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. Numakura C; Lin C; Ikegami T; Guldberg P; Hayasaka K Hum Mutat; 2002 Nov; 20(5):392-8. PubMed ID: 12402337 [TBL] [Abstract][Full Text] [Related]
19. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing. Seeman P; Mazanec R; Ctvrtecková M; Smilková D Int J Mol Med; 2001 Oct; 8(4):461-8. PubMed ID: 11562788 [TBL] [Abstract][Full Text] [Related]
20. Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. Gentile L; Russo M; Fabrizi GM; Taioli F; Ferrarini M; Testi S; Alfonzo A; Aguennouz M; Toscano A; Vita G; Mazzeo A Neurol Sci; 2020 May; 41(5):1239-1243. PubMed ID: 31902012 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]