167 related articles for article (PubMed ID: 7915877)
1. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.
Boespflug-Tanguy O; Mimault C; Melki J; Cavagna A; Giraud G; Pham Dinh D; Dastugue B; Dautigny A
Am J Hum Genet; 1994 Sep; 55(3):461-7. PubMed ID: 7915877
[TBL] [Abstract][Full Text] [Related]
2. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.
Inoue K; Osaka H; Sugiyama N; Kawanishi C; Onishi H; Nezu A; Kimura K; Yamada Y; Kosaka K
Am J Hum Genet; 1996 Jul; 59(1):32-9. PubMed ID: 8659540
[TBL] [Abstract][Full Text] [Related]
3. Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq.
Lazzarini A; Schwarz KO; Jiang S; Stenroos ES; Lehner T; Johnson WG
Neurology; 1997 Sep; 49(3):824-32. PubMed ID: 9305348
[TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
Mäenpää J; Lindahl E; Aula P; Savontaus ML
Clin Genet; 1990 Feb; 37(2):141-7. PubMed ID: 1968793
[TBL] [Abstract][Full Text] [Related]
5. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
Raskind WH; Williams CA; Hudson LD; Bird TD
Am J Hum Genet; 1991 Dec; 49(6):1355-60. PubMed ID: 1720927
[TBL] [Abstract][Full Text] [Related]
6. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
Pratt VM; Kiefer JR; Lähdetie J; Schleutker J; Hodes ME; Dlouhy SR
Am J Hum Genet; 1993 Jun; 52(6):1053-6. PubMed ID: 7684886
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.
Inoue K; Osaka H; Kawanishi C; Sugiyama N; Ishii M; Sugita K; Yamada Y; Kosaka K
Neurology; 1997 Jan; 48(1):283-5. PubMed ID: 9008538
[TBL] [Abstract][Full Text] [Related]
8. Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.
Pham-Dinh D; Boespflug-Tanguy O; Mimault C; Cavagna A; Giraud G; Leberre G; Lemarec B; Dautigny A
Hum Mol Genet; 1993 Apr; 2(4):465-7. PubMed ID: 7684945
[TBL] [Abstract][Full Text] [Related]
9. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
Trofatter JA; Dlouhy SR; DeMyer W; Conneally PM; Hodes ME
Proc Natl Acad Sci U S A; 1989 Dec; 86(23):9427-30. PubMed ID: 2480601
[TBL] [Abstract][Full Text] [Related]
10. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.
Mimault C; Giraud G; Courtois V; Cailloux F; Boire JY; Dastugue B; Boespflug-Tanguy O
Am J Hum Genet; 1999 Aug; 65(2):360-9. PubMed ID: 10417279
[TBL] [Abstract][Full Text] [Related]
11. A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.
Weimbs T; Dick T; Stoffel W; Boltshauser E
Biol Chem Hoppe Seyler; 1990 Dec; 371(12):1175-83. PubMed ID: 1708672
[TBL] [Abstract][Full Text] [Related]
12. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
Saugier-Veber P; Munnich A; Bonneau D; Rozet JM; Le Merrer M; Gil R; Boespflug-Tanguy O
Nat Genet; 1994 Mar; 6(3):257-62. PubMed ID: 8012387
[TBL] [Abstract][Full Text] [Related]
13. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
Nagao M; Kadowaki J
J Hum Genet; 1998; 43(3):206-8. PubMed ID: 9747038
[TBL] [Abstract][Full Text] [Related]
14. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
Sistermans EA; de Coo RF; De Wijs IJ; Van Oost BA
Neurology; 1998 Jun; 50(6):1749-54. PubMed ID: 9633722
[TBL] [Abstract][Full Text] [Related]
15. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
Pratt VM; Boyadjiev S; Green K; Hodes ME; Dlouhy SR
Am J Med Genet; 1995 Jul; 58(1):70-3. PubMed ID: 7573159
[TBL] [Abstract][Full Text] [Related]
16. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
Woodward K; Kendall E; Vetrie D; Malcolm S
Am J Hum Genet; 1998 Jul; 63(1):207-17. PubMed ID: 9634530
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease.
Otterbach B; Stoffel W; Ramaekers V
Biol Chem Hoppe Seyler; 1993 Jan; 374(1):75-83. PubMed ID: 7679906
[TBL] [Abstract][Full Text] [Related]
18. Genetics of Pelizaeus-Merzbacher disease.
Hodes ME; Pratt VM; Dlouhy SR
Dev Neurosci; 1993; 15(6):383-94. PubMed ID: 7530633
[TBL] [Abstract][Full Text] [Related]
19. Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
Bridge PJ; MacLeod PM; Lillicrap DP
Am J Med Genet; 1991 Mar; 38(4):616-21. PubMed ID: 1676565
[TBL] [Abstract][Full Text] [Related]
20. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
Kurosawa K; Iwaki A; Miyake S; Imaizumi K; Kuroki Y; Fukumaki Y
Hum Mol Genet; 1993 Dec; 2(12):2187-9. PubMed ID: 7509234
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
