290 related articles for article (PubMed ID: 23604902)
1. A review of genetic counseling for Charcot Marie Tooth disease (CMT).
Siskind CE; Panchal S; Smith CO; Feely SM; Dalton JC; Schindler AB; Krajewski KM
J Genet Couns; 2013 Aug; 22(4):422-36. PubMed ID: 23604902
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Update on Charcot-Marie-Tooth disease.
Patzkó A; Shy ME
Curr Neurol Neurosci Rep; 2011 Feb; 11(1):78-88. PubMed ID: 21080241
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Therapeutic options in Charcot-Marie-Tooth diseases.
Mathis S; Magy L; Vallat JM
Expert Rev Neurother; 2015 Apr; 15(4):355-66. PubMed ID: 25703094
[TBL] [Abstract][Full Text] [Related]
8. Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Padilha JPD; Brasil CS; Hoefel AML; Winckler PB; Donis KC; Brusius-Facchin AC; Saute JAM
Clin Genet; 2020 Aug; 98(2):185-190. PubMed ID: 32506583
[TBL] [Abstract][Full Text] [Related]
9. Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH; Lin KP; Guo YC; Tsai YS; Liao YC; Lee YC
Ann Clin Transl Neurol; 2019 Jun; 6(6):1090-1101. PubMed ID: 31211173
[TBL] [Abstract][Full Text] [Related]
10. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Murphy SM; Laura M; Fawcett K; Pandraud A; Liu YT; Davidson GL; Rossor AM; Polke JM; Castleman V; Manji H; Lunn MP; Bull K; Ramdharry G; Davis M; Blake JC; Houlden H; Reilly MM
J Neurol Neurosurg Psychiatry; 2012 Jul; 83(7):706-10. PubMed ID: 22577229
[TBL] [Abstract][Full Text] [Related]
11. Charcot-Marie-Tooth: From Molecules to Therapy.
Morena J; Gupta A; Hoyle JC
Int J Mol Sci; 2019 Jul; 20(14):. PubMed ID: 31336816
[TBL] [Abstract][Full Text] [Related]
12. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn S; Tölle D; Senderek J; Eggermann K; Elbracht M; Kornak U; von der Hagen M; Kirschner J; Leube B; Müller-Felber W; Schara U; von Au K; Wieczorek D; Bußmann C; Zerres K
Clin Genet; 2016 Jan; 89(1):34-43. PubMed ID: 25850958
[TBL] [Abstract][Full Text] [Related]
13. Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.
Uchôa Cavalcanti EB; Santos SCL; Martins CES; de Carvalho DR; Rizzo IMPO; Freitas MCDNB; da Silva Freitas D; de Souza FS; Junior AM; do Nascimento OJM
J Peripher Nerv Syst; 2021 Sep; 26(3):290-297. PubMed ID: 34190362
[TBL] [Abstract][Full Text] [Related]
14. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.
Gess B; Schirmacher A; Boentert M; Young P
Neuromuscul Disord; 2013 Aug; 23(8):647-51. PubMed ID: 23743332
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Dominant Charcot-Marie-Tooth syndrome and cognate disorders.
Pareyson D; Marchesi C; Salsano E
Handb Clin Neurol; 2013; 115():817-45. PubMed ID: 23931817
[TBL] [Abstract][Full Text] [Related]
17. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
Abe A; Numakura C; Kijima K; Hayashi M; Hashimoto T; Hayasaka K
J Hum Genet; 2011 May; 56(5):364-8. PubMed ID: 21326314
[TBL] [Abstract][Full Text] [Related]
18. Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.
Milley GM; Varga ET; Grosz Z; Nemes C; Arányi Z; Boczán J; Diószeghy P; Molnár MJ; Gál A
Neuromuscul Disord; 2018 Jan; 28(1):38-43. PubMed ID: 29174527
[TBL] [Abstract][Full Text] [Related]
19. Experimental therapeutics in hereditary neuropathies: the past, the present, and the future.
Herrmann DN
Neurotherapeutics; 2008 Oct; 5(4):507-15. PubMed ID: 19019301
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
