These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 1376966)

  • 41. 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]  

  • 42. 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]  

  • 43. A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.
    Harding B; Ellis D; Malcolm S
    Neuropathol Appl Neurobiol; 1995 Apr; 21(2):111-5. PubMed ID: 7541900
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.
    Ellis D; Malcolm S
    Nat Genet; 1994 Apr; 6(4):333-4. PubMed ID: 7519941
    [No Abstract]   [Full Text] [Related]  

  • 46. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Hobson GM; Davis AP; Stowell NC; Kolodny EH; Sistermans EA; de Coo IF; Funanage VL; Marks HG
    Neurology; 2000 Oct; 55(8):1089-96. PubMed ID: 11071483
    [TBL] [Abstract][Full Text] [Related]  

  • 47. RFLP detected by a genomic probe from the human X-linked proteolipid protein gene, PLP.
    Raskind WH; Wolff J; Hudson LD; Bird TD
    Hum Mol Genet; 1992 Jul; 1(4):288. PubMed ID: 1284628
    [No Abstract]   [Full Text] [Related]  

  • 48. 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]  

  • 49. The inherited leukodystrophies: a clinical overview.
    Aicardi J
    J Inherit Metab Dis; 1993; 16(4):733-43. PubMed ID: 7692130
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. 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]  

  • 52. Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
    Mäenpää J; Lindahl E; Aula P; Savontaus ML
    Clin Genet; 1990 Feb; 37(2):141-7. PubMed ID: 1968793
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
    Regis S; Filocamo M; Mazzotti R; Cusano R; Corsolini F; Bonuccelli G; Stroppiano M; Gatti R
    Prenat Diagn; 2001 Aug; 21(8):668-71. PubMed ID: 11536268
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Identification of a new exon in the myelin proteolipid protein gene encoding novel protein isoforms that are restricted to the somata of oligodendrocytes and neurons.
    Bongarzone ER; Campagnoni CW; Kampf K; Jacobs EC; Handley VW; Schonmann V; Campagnoni AT
    J Neurosci; 1999 Oct; 19(19):8349-57. PubMed ID: 10493736
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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]  

  • 56. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
    Inoue K; Osaka H; Imaizumi K; Nezu A; Takanashi J; Arii J; Murayama K; Ono J; Kikawa Y; Mito T; Shaffer LG; Lupski JR
    Ann Neurol; 1999 May; 45(5):624-32. PubMed ID: 10319885
    [TBL] [Abstract][Full Text] [Related]  

  • 57. The proteolipid protein gene.
    Griffiths IR; Montague P; Dickinson P
    Neuropathol Appl Neurobiol; 1995 Apr; 21(2):85-96. PubMed ID: 7541901
    [TBL] [Abstract][Full Text] [Related]  

  • 58. 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]  

  • 59. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
    Koeppen AH; Ronca NA; Greenfield EA; Hans MB
    Ann Neurol; 1987 Feb; 21(2):159-70. PubMed ID: 3827224
    [TBL] [Abstract][Full Text] [Related]  

  • 60. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
    Bonnet-Dupeyron MN; Combes P; Santander P; Cailloux F; Boespflug-Tanguy O; Vaurs-Barrière C
    Hum Mutat; 2008 Aug; 29(8):1028-36. PubMed ID: 18470932
    [TBL] [Abstract][Full Text] [Related]  

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