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3. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Roa BB; Greenberg F; Gunaratne P; Sauer CM; Lubinsky MS; Kozma C; Meck JM; Magenis RE; Shaffer LG; Lupski JR Hum Genet; 1996 May; 97(5):642-9. PubMed ID: 8655146 [TBL] [Abstract][Full Text] [Related]
4. New vistas on the pathomechanism of Charcot-Marie-Tooth and related peripheral neuropathies. Müller HW Ann N Y Acad Sci; 1999 Sep; 883():152-9. PubMed ID: 10586241 [TBL] [Abstract][Full Text] [Related]
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7. Regulation of myelin-specific gene expression. Relevance to CMT1. Kamholz J; Awatramani R; Menichella D; Jiang H; Xu W; Shy M Ann N Y Acad Sci; 1999 Sep; 883():91-108. PubMed ID: 10586235 [TBL] [Abstract][Full Text] [Related]
9. Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype. Seeman P; Mazanec R; Marikova T; Rautenstrauss B Ann N Y Acad Sci; 1999 Sep; 883():485-9. PubMed ID: 10586280 [No Abstract] [Full Text] [Related]
10. Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. Numakura C; Lin C; Oka N; Akiguchi I; Hayasaka K Ann Neurol; 2000 Jan; 47(1):101-3. PubMed ID: 10632107 [TBL] [Abstract][Full Text] [Related]
11. Many facets of the peripheral myelin protein PMP22 in myelination and disease. Naef R; Suter U Microsc Res Tech; 1998 Jun; 41(5):359-71. PubMed ID: 9672419 [TBL] [Abstract][Full Text] [Related]
12. The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22. Niemann S; Sereda MW; Rossner M; Stewart H; Suter U; Meinck HM; Griffiths IR; Nave KA Ann N Y Acad Sci; 1999 Sep; 883():254-61. PubMed ID: 10586250 [TBL] [Abstract][Full Text] [Related]
13. Inflammatory demyelination in a patient with CMT1A. Vital A; Vital C; Lagueny A; Ferrer X; Ribière-Bachelier C; Latour P; Petry KG Muscle Nerve; 2003 Sep; 28(3):373-6. PubMed ID: 12929199 [TBL] [Abstract][Full Text] [Related]
14. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. LeGuern E; Gouider R; Mabin D; Tardieu S; Birouk N; Parent P; Bouche P; Brice A Ann Neurol; 1997 Jan; 41(1):104-8. PubMed ID: 9005872 [TBL] [Abstract][Full Text] [Related]
15. Duplication analysis in Turkish Charcot-Marie-Tooth type 1A patients using short tandem repeat markers. Koç F; Güzel AI; Sarica Y; Kasap H Int J Neurosci; 2007 Nov; 117(11):1611-9. PubMed ID: 17917930 [TBL] [Abstract][Full Text] [Related]
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17. 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]
19. Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. King PH; Waldrop R; Lupski JR; Shaffer LG Clin Genet; 1998 Nov; 54(5):413-6. PubMed ID: 9842994 [TBL] [Abstract][Full Text] [Related]
20. [Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22]. Yoshikawa H; Nishimura T; Yanagihara T Rinsho Shinkeigaku; 1995 Dec; 35(12):1441-3. PubMed ID: 8752424 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]