BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 10586260)

  • 1. Peripheral neuropathy caused by proteolipid protein gene mutations.
    Garbern JY; Cambi F; Lewis R; Shy M; Sima A; Kraft G; Vallat JM; Bosch EP; Hodes ME; Dlouhy S; Raskind W; Bird T; Macklin W; Kamholz J
    Ann N Y Acad Sci; 1999 Sep; 883():351-65. PubMed ID: 10586260
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.
    Garbern JY; Cambi F; Lewis R; Shy M; Sima A; Kraft G; Vallat JM; Bosch EP; Hodes ME; Dlouhy S; Raskind W; Bird T; Macklin W; Kamholz J
    Ann N Y Acad Sci; 1999 Oct; 883(1):351-365. PubMed ID: 29086946
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
    Shy ME; Hobson G; Jain M; Boespflug-Tanguy O; Garbern J; Sperle K; Li W; Gow A; Rodriguez D; Bertini E; Mancias P; Krajewski K; Lewis R; Kamholz J
    Ann Neurol; 2003 Mar; 53(3):354-65. PubMed ID: 12601703
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Proteolipid protein dimerization at cysteine 108: Implications for protein structure.
    Daffu G; Sohi J; Kamholz J
    Neurosci Res; 2012 Oct; 74(2):144-55. PubMed ID: 22902553
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
    Lee ES; Moon HK; Park YH; Garbern J; Hobson GM
    J Neurol Sci; 2004 Sep; 224(1-2):83-7. PubMed ID: 15450775
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain.
    Bachstetter AD; Webster SJ; Van Eldik LJ; Cambi F
    J Neuroinflammation; 2013 Dec; 10():146. PubMed ID: 24314267
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
    Fukumura S; Adachi N; Nagao M; Tsutsumi H
    Brain Dev; 2011 Sep; 33(8):697-9. PubMed ID: 21177054
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system.
    Garbern JY
    J Neurol Sci; 2005 Feb; 228(2):201-3. PubMed ID: 15694206
    [No Abstract]   [Full Text] [Related]  

  • 14. The PLP mutants from mouse to man.
    Duncan ID
    J Neurol Sci; 2005 Feb; 228(2):204-5. PubMed ID: 15694207
    [No Abstract]   [Full Text] [Related]  

  • 15. A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease.
    Dhaunchak AS; Nave KA
    Proc Natl Acad Sci U S A; 2007 Nov; 104(45):17813-8. PubMed ID: 17962415
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication.
    Takanashi J; Sugita K; Tanabe Y; Nagasawa K; Inoue K; Osaka H; Kohno Y
    AJNR Am J Neuroradiol; 1999; 20(10):1822-8. PubMed ID: 10588103
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The proteolipid protein gene and myelin disorders in man and animal models.
    Yool DA; Edgar JM; Montague P; Malcolm S
    Hum Mol Genet; 2000 Apr; 9(6):987-92. PubMed ID: 10767322
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.
    Swanton E; Holland A; High S; Woodman P
    Proc Natl Acad Sci U S A; 2005 Mar; 102(12):4342-7. PubMed ID: 15753308
    [TBL] [Abstract][Full Text] [Related]  

  • 20. PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease.
    Karim SA; Barrie JA; McCulloch MC; Montague P; Edgar JM; Iden DL; Anderson TJ; Nave KA; Griffiths IR; McLaughlin M
    Glia; 2010 Nov; 58(14):1727-38. PubMed ID: 20629189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.