1686 related articles for article (PubMed ID: 26497905)
1. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C
Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.
Duan X; Liu X; Wang G; Gu W; Xu M; Hao Y; Dong M; Sun Q; Sun S; Chen Y; Wang W; Li J; Zhang Y; Cao Z; Fan D; Wang R; Da Y
Orphanet J Rare Dis; 2021 May; 16(1):244. PubMed ID: 34059105
[TBL] [Abstract][Full Text] [Related]
4. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Albulym OM; Kennerson ML; Harms MB; Drew AP; Siddell AH; Auer-Grumbach M; Pestronk A; Connolly A; Baloh RH; Zuchner S; Reddel SW; Nicholson GA
Ann Neurol; 2016 Mar; 79(3):419-27. PubMed ID: 26659848
[TBL] [Abstract][Full Text] [Related]
5. Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.
Fu J; Dai S; Lu Y; Wu R; Wang Z; Yuan Y; Lv H
Neuromuscul Disord; 2017 Aug; 27(8):760-765. PubMed ID: 28495047
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG; Züchner S; Kennerson M; Berciano J; Garcia A; Verhoeven K; Storey E; Merory JR; Bienfait HM; Lammens M; Nelis E; Baets J; De Vriendt E; Berneman ZN; De Veuster I; Vance JM; Nicholson G; Timmerman V; De Jonghe P
Brain; 2009 Jul; 132(Pt 7):1741-52. PubMed ID: 19502294
[TBL] [Abstract][Full Text] [Related]
8. Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Sancho P; Bartesaghi L; Miossec O; García-García F; Ramírez-Jiménez L; Siddell A; Åkesson E; Hedlund E; Laššuthová P; Pascual-Pascual SI; Sevilla T; Kennerson M; Lupo V; Chrast R; Espinós C
Hum Mol Genet; 2019 May; 28(10):1629-1644. PubMed ID: 30624633
[TBL] [Abstract][Full Text] [Related]
9. [A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy].
Yamamoto D; Oda R; Hisahara S; Ishikawa A; Ogi T; Shimohama S
Rinsho Shinkeigaku; 2021 Apr; 61(4):262-264. PubMed ID: 33762496
[TBL] [Abstract][Full Text] [Related]
10. A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
Tozza S; Magri S; Pennisi EM; Schirinzi E; Pisciotta C; Balistreri F; Severi D; Ricci G; Siciliano G; Taroni F; Santoro L; Manganelli F
J Peripher Nerv Syst; 2019 Jun; 24(2):219-223. PubMed ID: 30843326
[TBL] [Abstract][Full Text] [Related]
11. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
Sevilla T; Cuesta A; Chumillas MJ; Mayordomo F; Pedrola L; Palau F; Vílchez JJ
Brain; 2003 Sep; 126(Pt 9):2023-33. PubMed ID: 12821518
[TBL] [Abstract][Full Text] [Related]
12. Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
Jacquier A; Ribault S; Mendes M; Lacoste N; Risson V; Carras J; Latour P; Nadaj-Pakleza A; Stojkovic T; Schaeffer L
Hum Mutat; 2022 Dec; 43(12):1898-1908. PubMed ID: 35904125
[TBL] [Abstract][Full Text] [Related]
13. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
Sivera R; Espinós C; Vílchez JJ; Mas F; Martínez-Rubio D; Chumillas MJ; Mayordomo F; Muelas N; Bataller L; Palau F; Sevilla T
J Peripher Nerv Syst; 2010 Dec; 15(4):334-44. PubMed ID: 21199105
[TBL] [Abstract][Full Text] [Related]
14. Sural biopsy to detect the axonal cytoskeleton defects in
Du K; Meng L; Lv H; Zhang W; Wang Z; Yuan Y
Clin Neuropathol; 2021; 40(3):142-149. PubMed ID: 33155544
[TBL] [Abstract][Full Text] [Related]
15. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T; Sivera R; Martínez-Rubio D; Lupo V; Chumillas MJ; Calpena E; Dopazo J; Vílchez JJ; Palau F; Espinós C
Eur J Neurol; 2015 Dec; 22(12):1548-55. PubMed ID: 26204789
[TBL] [Abstract][Full Text] [Related]
16. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
Chaouch M; Allal Y; De Sandre-Giovannoli A; Vallat JM; Amer-el-Khedoud A; Kassouri N; Chaouch A; Sindou P; Hammadouche T; Tazir M; Lévy N; Grid D
Neuromuscul Disord; 2003 Jan; 13(1):60-7. PubMed ID: 12467734
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A; Chaouch M; Kozlov S; Vallat JM; Tazir M; Kassouri N; Szepetowski P; Hammadouche T; Vandenberghe A; Stewart CL; Grid D; Lévy N
Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
[TBL] [Abstract][Full Text] [Related]
20. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
Bird TD; Kraft GH; Lipe HP; Kenney KL; Sumi SM
Ann Neurol; 1997 Apr; 41(4):463-9. PubMed ID: 9124803
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
