204 related articles for article (PubMed ID: 9056547)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
Sivakumar K; Sambuughin N; Selenge B; Nagle JW; Baasanjav D; Hudson LD; Goldfarb LG
Ann Neurol; 1999 May; 45(5):680-3. PubMed ID: 10319897
[TBL] [Abstract][Full Text] [Related]
10. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
Nagao M; Kadowaki J
J Hum Genet; 1998; 43(3):206-8. PubMed ID: 9747038
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. 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]
14. 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]
15. 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]
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. 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]
18. 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]
19. [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]
20. Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
Bridge PJ; MacLeod PM; Lillicrap DP
Am J Med Genet; 1991 Mar; 38(4):616-21. PubMed ID: 1676565
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
