443 related articles for article (PubMed ID: 8252046)
1. 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]
2. 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]
3. Inherited peripheral neuropathy.
Keller MP; Chance PF
Semin Neurol; 1999; 19(4):353-62. PubMed ID: 10716658
[TBL] [Abstract][Full Text] [Related]
4. Molecular basis of hereditary neuropathies.
Chance PF
Phys Med Rehabil Clin N Am; 2001 May; 12(2):277-91. PubMed ID: 11345007
[TBL] [Abstract][Full Text] [Related]
5. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Roa BB; Dyck PJ; Marks HG; Chance PF; Lupski JR
Nat Genet; 1993 Nov; 5(3):269-73. PubMed ID: 8275092
[TBL] [Abstract][Full Text] [Related]
6. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
Roa BB; Garcia CA; Lupski JR
Int J Neurol; 1991-1992; 25-26():97-107. PubMed ID: 11980069
[TBL] [Abstract][Full Text] [Related]
7. Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.
Chance PF; Lupski JR
Baillieres Clin Neurol; 1994 Aug; 3(2):373-85. PubMed ID: 7952853
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Genetics of peripheral neuropathies and hereditary ataxias].
Palau F; Sevilla T
Neurologia; 1995 Dec; 10 Suppl 1():32-43. PubMed ID: 8838557
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Resko P; Radvansky J; Odnogova Z; Baldovic M; Minarik G; Polakova H; Palffy R; Kadasi L
Gen Physiol Biophys; 2011 Dec; 30(4):379-88. PubMed ID: 22131320
[TBL] [Abstract][Full Text] [Related]
13. Overview of hereditary neuropathy with liability to pressure palsies.
Chance PF
Ann N Y Acad Sci; 1999 Sep; 883():14-21. PubMed ID: 10586225
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Genetic basis of inherited peripheral neuropathies.
Suter U; Patel PI
Hum Mutat; 1994; 3(2):95-102. PubMed ID: 7515304
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]