553 related articles for article (PubMed ID: 7515304)
21. 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]
22. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
Timmerman V; Nelis E; Van Hul W; Nieuwenhuijsen BW; Chen KL; Wang S; Ben Othman K; Cullen B; Leach RJ; Hanemann CO
Nat Genet; 1992 Jun; 1(3):171-5. PubMed ID: 1303230
[TBL] [Abstract][Full Text] [Related]
23. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Roa BB; Garcia CA; Pentao L; Killian JM; Trask BJ; Suter U; Snipes GJ; Ortiz-Lopez R; Shooter EM; Patel PI; Lupski JR
Nat Genet; 1993 Oct; 5(2):189-94. PubMed ID: 8252046
[TBL] [Abstract][Full Text] [Related]
24. Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.
Giambonini-Brugnoli G; Buchstaller J; Sommer L; Suter U; Mantei N
Neurobiol Dis; 2005 Apr; 18(3):656-68. PubMed ID: 15755691
[TBL] [Abstract][Full Text] [Related]
25. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
26. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
Valentijn LJ; Baas F; Wolterman RA; Hoogendijk JE; van den Bosch NH; Zorn I; Gabreëls-Festen AW; de Visser M; Bolhuis PA
Nat Genet; 1992 Dec; 2(4):288-91. PubMed ID: 1303281
[TBL] [Abstract][Full Text] [Related]
27. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
Inoue K; Dewar K; Katsanis N; Reiter LT; Lander ES; Devon KL; Wyman DW; Lupski JR; Birren B
Genome Res; 2001 Jun; 11(6):1018-33. PubMed ID: 11381029
[TBL] [Abstract][Full Text] [Related]
28. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.
Thiel CT; Kraus C; Rauch A; Ekici AB; Rautenstrauss B; Reis A
Eur J Hum Genet; 2003 Feb; 11(2):170-8. PubMed ID: 12634865
[TBL] [Abstract][Full Text] [Related]
29. Inherited neuropathies: from gene to disease.
Keller MP; Chance PF
Brain Pathol; 1999 Apr; 9(2):327-41. PubMed ID: 10219749
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.
Kulkens T; Bolhuis PA; Wolterman RA; Kemp S; te Nijenhuis S; Valentijn LJ; Hensels GW; Jennekens FG; de Visser M; Hoogendijk JE
Nat Genet; 1993 Sep; 5(1):35-9. PubMed ID: 7693130
[TBL] [Abstract][Full Text] [Related]
32. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
Hayasaka K; Himoro M; Sato W; Takada G; Uyemura K; Shimizu N; Bird TD; Conneally PM; Chance PF
Nat Genet; 1993 Sep; 5(1):31-4. PubMed ID: 7693129
[TBL] [Abstract][Full Text] [Related]
33. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Murakami T; Lupski JR
Genomics; 1996 May; 34(1):128-33. PubMed ID: 8661034
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.
Slater H; Bruno D; Ren H; La P; Burgess T; Hills L; Nouri S; Schouten J; Choo KH
Hum Mutat; 2004 Aug; 24(2):164-71. PubMed ID: 15241798
[TBL] [Abstract][Full Text] [Related]
36. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.
Leonardis L; Zidar J; Ekici A; Peterlin B; Rautenstrauss B
Int J Mol Med; 1998 Feb; 1(2):495-501. PubMed ID: 9852256
[TBL] [Abstract][Full Text] [Related]
37. Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol; 2004; 57():228-42. PubMed ID: 16106622
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
Moszyńska I; Kabzińska D; Sinkiewicz-Darol E; Kochański A
Acta Biochim Pol; 2009; 56(4):627-30. PubMed ID: 19830275
[TBL] [Abstract][Full Text] [Related]
40. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
Taioli F; Cabrini I; Cavallaro T; Acler M; Fabrizi GM
Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]