167 related articles for article (PubMed ID: 9305348)
1. 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]
2. 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]
3. 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]
4. 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]
5. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.
Bond C; Si X; Crisp M; Wong P; Paulson GW; Boesel CP; Dlouhy SR; Hodes ME
Am J Med Genet; 1997 Aug; 71(3):357-60. PubMed ID: 9268109
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
Gencic S; Abuelo D; Ambler M; Hudson LD
Am J Hum Genet; 1989 Sep; 45(3):435-42. PubMed ID: 2773936
[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. 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]
11. 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]
12. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
Hodes ME; DeMyer WE; Pratt VM; Edwards MK; Dlouhy SR
Am J Med Genet; 1995 Feb; 55(4):397-401. PubMed ID: 7539211
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Pelizaeus-Merzbacher disease].
Koetsveld-Baart JC; Glaudemans-van Gelderen IE; Valk J; Barth PG
Ned Tijdschr Geneeskd; 1993 Nov; 137(48):2494-8. PubMed ID: 8272126
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.
Naidu S; Dlouhy SR; Geraghty MT; Hodes ME
J Inherit Metab Dis; 1997 Nov; 20(6):811-6. PubMed ID: 9427151
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
Pratt VM; Boyadjiev S; Dlouhy SR; Silver K; Der Kaloustian VM; Hodes ME
Am J Med Genet; 1995 Feb; 55(4):402-4. PubMed ID: 7539212
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
