128 related articles for article (PubMed ID: 9788732)
1. A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
Hodes ME; Aydanian A; Dlouhy SR; Whelan DT; Heshka T; Ronen G
Clin Genet; 1998 Sep; 54(3):248-9. PubMed ID: 9788732
[No Abstract] [Full Text] [Related]
2. A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
Kawanishi C; Osaka H; Owa K; Inoue K; Miyakawa T; Onishi H; Yamada Y; Suzuki K; Kimura S; Kosaka K
Hum Mutat; 1997; 9(5):475-6. PubMed ID: 9143933
[No Abstract] [Full Text] [Related]
3. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
Yamamoto T; Nanba E
Hum Mutat; 1999 Aug; 14(2):182. PubMed ID: 10425042
[No Abstract] [Full Text] [Related]
4. 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]
5. Connatal Pelizaeus-Merzbacher disease associated with the jimpy(msd) mice mutation.
Komaki H; Sasaki M; Yamamoto T; Iai M; Takashima S
Pediatr Neurol; 1999 Apr; 20(4):309-11. PubMed ID: 10328282
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
Pratt VM; Naidu S; Dlouhy SR; Marks HG; Hodes ME
Neurology; 1995 Feb; 45(2):394-5. PubMed ID: 7531827
[No Abstract] [Full Text] [Related]
9. A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease.
Verhagen WI; Huygen PL; Smeets HJ; Renier WO; de Wijs I
J Neurol Sci; 1997 Apr; 147(2):215-6. PubMed ID: 9106132
[No Abstract] [Full Text] [Related]
10. Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein gene.
Kawanishi C; Sugiyama N; Osaka H; Inoue K; Suzuki K; Onishi H; Yamada Y; Nezu A; Kimura S; Kosaka K
Hum Mutat; 1996; 7(4):355-7. PubMed ID: 8723686
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice.
Woodward K; Malcolm S
Trends Genet; 1999 Apr; 15(4):125-8. PubMed ID: 10203813
[TBL] [Abstract][Full Text] [Related]
14. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.
Osaka H; Kawanishi C; Inoue K; Uesugi H; Hiroshi K; Nishiyama K; Yamada Y; Suzuki K; Kimura S; Kosaka K
Biochem Biophys Res Commun; 1995 Oct; 215(3):835-41. PubMed ID: 7488049
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
Kleindorfer DO; Dlouhy SR; Pratt VM; Jones MC; Trofatter JA; Hodes ME
Am J Med Genet; 1995 Feb; 55(4):405-7. PubMed ID: 7539213
[TBL] [Abstract][Full Text] [Related]
17. Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
Osaka H; Kawanishi C; Inoue K; Onishi H; Kobayashi T; Sugiyama N; Kosaka K; Nezu A; Fujii K; Sugita K; Kodama K; Murayama K; Murayama S; Kanazawa I; Kimura S
Ann Neurol; 1999 Jan; 45(1):59-64. PubMed ID: 9894878
[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. A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease.
Strautnieks S; Malcolm S
Hum Mol Genet; 1993 Dec; 2(12):2191-2. PubMed ID: 7509235
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]
