146 related articles for article (PubMed ID: 7684886)
1. 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]
2. 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]
3. 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]
4. New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
Pratt VM; Trofatter JA; Larsen MB; Hodes ME; Dlouhy SR
Am J Med Genet; 1992 Jun; 43(3):642-6. PubMed ID: 1376553
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
Doll R; Natowicz MR; Schiffmann R; Smith FI
Am J Hum Genet; 1992 Jul; 51(1):161-9. PubMed ID: 1376966
[TBL] [Abstract][Full Text] [Related]
7. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
Pratt VM; Dlouhy SR; Hodes ME
Clin Genet; 1995 Feb; 47(2):99-100. PubMed ID: 7541731
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
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. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
Pratt VM; Trofatter JA; Schinzel A; Dlouhy SR; Conneally PM; Hodes ME
Am J Med Genet; 1991 Jan; 38(1):136-9. PubMed ID: 1707231
[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. 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]
[Next] [New Search]
