129 related articles for article (PubMed ID: 9008538)
1. 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]
2. Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
Wang PJ; Hwu WL; Lee WT; Wang TR; Shen YZ
Pediatr Neurol; 1997 Sep; 17(2):125-8. PubMed ID: 9367291
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
Cailloux F; Gauthier-Barichard F; Mimault C; Isabelle V; Courtois V; Giraud G; Dastugue B; Boespflug-Tanguy O
Eur J Hum Genet; 2000 Nov; 8(11):837-45. PubMed ID: 11093273
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.
Sistermans EA; de Wijs IJ; de Coo RF; Smit LM; Menko FH; van Oost BA
Hum Genet; 1996 Mar; 97(3):337-9. PubMed ID: 8786077
[TBL] [Abstract][Full Text] [Related]
11. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
Hodes ME; Blank CA; Pratt VM; Morales J; Napier J; Dlouhy SR
Am J Med Genet; 1997 Mar; 69(2):121-5. PubMed ID: 9056547
[TBL] [Abstract][Full Text] [Related]
12. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Inoue K; Osaka H; Imaizumi K; Nezu A; Takanashi J; Arii J; Murayama K; Ono J; Kikawa Y; Mito T; Shaffer LG; Lupski JR
Ann Neurol; 1999 May; 45(5):624-32. PubMed ID: 10319885
[TBL] [Abstract][Full Text] [Related]
13. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
Carango P; Funanage VL; Quirós RE; Debruyn CS; Marks HG
Ann Neurol; 1995 Oct; 38(4):610-7. PubMed ID: 7574457
[TBL] [Abstract][Full Text] [Related]
14. 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]
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. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
Hobson GM; Davis AP; Stowell NC; Kolodny EH; Sistermans EA; de Coo IF; Funanage VL; Marks HG
Neurology; 2000 Oct; 55(8):1089-96. PubMed ID: 11071483
[TBL] [Abstract][Full Text] [Related]
17. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes ME; Zimmerman AW; Aydanian A; Naidu S; Miller NR; Garcia Oller JL; Barker B; Aleck KA; Hurley TD; Dlouhy SR
Am J Med Genet; 1999 Jan; 82(2):132-9. PubMed ID: 9934976
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.
Iwaki A; Muramoto T; Iwaki I; Furumi H; Dario-deLeon ML; Tateishi J; Fukumaki Y
Hum Mol Genet; 1993 Jan; 2(1):19-22. PubMed ID: 7683951
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]