189 related articles for article (PubMed ID: 9633722)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
Hoffman-Zacharska D; Mierzewska H; Szczepanik E; Poznański J; Mazurczak T; Jakubiuk-Tomaszuk A; Mądry J; Kierdaszuk A; Bal J
Med Wieku Rozwoj; 2013; 17(4):293-300. PubMed ID: 24519770
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Current concepts of PLP and its role in the nervous system.
Griffiths I; Klugmann M; Anderson T; Thomson C; Vouyiouklis D; Nave KA
Microsc Res Tech; 1998 Jun; 41(5):344-58. PubMed ID: 9672418
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P; Paderova K; Benes V; Sistermans EA
Int J Mol Med; 2002 Feb; 9(2):125-9. PubMed ID: 11786921
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
