BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 1376966)

  • 21. 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]  

  • 22. Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
    Pham-Dinh D; Popot JL; Boespflug-Tanguy O; Landrieu P; Deleuze JF; Boué J; Jollès P; Dautigny A
    Proc Natl Acad Sci U S A; 1991 Sep; 88(17):7562-6. PubMed ID: 1715570
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Myelin proteolipid protein mutation in the rabbit: a new model of Pelizaeus-Merzbacher disease.
    Tosic M; Dolivo M; Domanska-Janik K; Matthieu JM
    Schweiz Arch Neurol Psychiatr (1985); 1994; 145(3):24-6. PubMed ID: 7533932
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
    Hudson LD; Puckett C; Berndt J; Chan J; Gencic S
    Proc Natl Acad Sci U S A; 1989 Oct; 86(20):8128-31. PubMed ID: 2479017
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease.
    Aoyagi Y; Kobayashi H; Tanaka K; Ozawa T; Nitta H; Tsuji S
    Ann Neurol; 1999 Jul; 46(1):112-5. PubMed ID: 10401787
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [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]  

  • 34. 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]  

  • 35. 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]  

  • 36. 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]  

  • 37. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies.
    Kaye EM; Doll RF; Natowicz MR; Smith FI
    Ann Neurol; 1994 Dec; 36(6):916-9. PubMed ID: 7998780
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene.
    Schneider A; Montague P; Griffiths I; Fanarraga M; Kennedy P; Brophy P; Nave KA
    Nature; 1992 Aug; 358(6389):758-61. PubMed ID: 1380672
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.