294 related articles for article (PubMed ID: 11798863)
1. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
Xiao J; Tang B; Xia J
Zhonghua Yi Xue Za Zhi; 2001 Feb; 81(3):138-41. PubMed ID: 11798863
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mersiyanova IV; Ismailov SM; Polyakov AV; Dadali EL; Fedotov VP; Nelis E; Löfgren A; Timmerman V; van Broeckhoven C; Evgrafov OV
Hum Mutat; 2000; 15(4):340-7. PubMed ID: 10737979
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K; Benes V; Thiel C; Kraus C; Kress W; Hoeltzenbein M; Ploner CJ; Kotzian J; Reis A; Rott HD; Rautenstrauss BW
Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
[TBL] [Abstract][Full Text] [Related]
6. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Bort S; Nelis E; Timmerman V; Sevilla T; Cruz-Martínez A; Martínez F; Millán JM; Arpa J; Vílchez JJ; Prieto F; Van Broeckhoven C; Palau F
Hum Genet; 1997 Jun; 99(6):746-54. PubMed ID: 9187667
[TBL] [Abstract][Full Text] [Related]
7. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K; Meretoja P; Juvonen V; Ignatius J; Pihko H; Saarinen A; Wallden T; Herrgård E; Aula P; Savontaus ML
Hum Mutat; 1998; 12(1):59-68. PubMed ID: 9633821
[TBL] [Abstract][Full Text] [Related]
8. Mutation testing in Charcot-Marie-Tooth neuropathy.
Nicholson GA
Ann N Y Acad Sci; 1999 Sep; 883():383-8. PubMed ID: 10586262
[TBL] [Abstract][Full Text] [Related]
9. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi BO; Lee MS; Shin SH; Hwang JH; Choi KG; Kim WK; Sunwoo IN; Kim NK; Chung KW
Hum Mutat; 2004 Aug; 24(2):185-6. PubMed ID: 15241803
[TBL] [Abstract][Full Text] [Related]
10. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Kochański A; Kabzińska D; Drac H; Ryniewicz B; Rowińska-Marcińska K; Hausmanowa-Petrusewicz I
Eur J Paediatr Neurol; 2004; 8(4):221-4. PubMed ID: 15261887
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Yoshihara T; Yamamoto M; Doyu M; Mis KI; Hattori N; Hasegawa Y; Mokuno K; Mitsuma T; Sobue G
Hum Mutat; 2000 Aug; 16(2):177-8. PubMed ID: 10923043
[TBL] [Abstract][Full Text] [Related]
12. [The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].
Zhang FF; Tang BS; Zhao GH; Luo W; Xia K; Liu XM; Xiao JF; Zhang RX; Chen B; Hang C; Pan Q; Cai F; Guo P
Zhonghua Yi Xue Za Zhi; 2005 Jul; 85(26):1809-12. PubMed ID: 16253183
[TBL] [Abstract][Full Text] [Related]
13. Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
Nowakowski A; Kochański A
Acta Biochim Pol; 2004; 51(1):273-80. PubMed ID: 15094849
[TBL] [Abstract][Full Text] [Related]
14. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
Lee YC; Soong BW; Lin KP; Lee HY; Wu ZA; Kao KP
J Neurol Sci; 2004 Apr; 219(1-2):95-100. PubMed ID: 15050444
[TBL] [Abstract][Full Text] [Related]
15. Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.
Keckarevic-Markovic M; Milic-Rasic V; Mladenovic J; Dackovic J; Kecmanovic M; Keckarevic D; Savic-Pavicevic D; Romac S
J Peripher Nerv Syst; 2009 Jun; 14(2):125-36. PubMed ID: 19691535
[TBL] [Abstract][Full Text] [Related]
16. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Rouger H; LeGuern E; Birouk N; Gouider R; Tardieu S; Plassart E; Gugenheim M; Vallat JM; Louboutin JP; Bouche P; Agid Y; Brice A
Hum Mutat; 1997; 10(6):443-52. PubMed ID: 9401007
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
Latour P; Blanquet F; Nelis E; Bonnebouche C; Chapon F; Diraison P; Ollagnon E; Dautigny A; Pham-Dinh D; Chazot G
Hum Mutat; 1995; 6(1):50-4. PubMed ID: 7550231
[TBL] [Abstract][Full Text] [Related]
18. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML; Righetti E; Zortea M; Bosello V; Schiavon F; Vallo L; Merlini L; Siciliano G; Fabrizi GM; Rizzuto N; Milani M; Baratta S; Taroni F
Hum Mutat; 2001; 18(1):32-41. PubMed ID: 11438991
[TBL] [Abstract][Full Text] [Related]
19. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Roa BB; Garcia CA; Suter U; Kulpa DA; Wise CA; Mueller J; Welcher AA; Snipes GJ; Shooter EM; Patel PI; Lupski JR
N Engl J Med; 1993 Jul; 329(2):96-101. PubMed ID: 8510709
[TBL] [Abstract][Full Text] [Related]
20. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
