BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 12796825)

  • 1. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
    Teixeira C; Guimarães A; Bessa C; Ferreira MJ; Lopes L; Pinto E; Pinto R; Boustany RM; Sá Miranda MC; Ribeiro MG
    J Neurol; 2003 Jun; 250(6):661-7. PubMed ID: 12796825
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
    Zhong N; Moroziewicz DN; Ju W; Jurkiewicz A; Johnston L; Wisniewski KE; Brown WT
    Genet Med; 2000; 2(6):312-8. PubMed ID: 11339651
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuronal ceroid lipofuscinoses: research update.
    Wisniewski KE; Kida E; Connell F; Zhong N
    Neurol Sci; 2000; 21(3 Suppl):S49-56. PubMed ID: 11073228
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
    Taschner PE; Losekoot M; Breuning MH; Hofman I; van Diggelen OP
    Ned Tijdschr Geneeskd; 2005 Feb; 149(6):300-3. PubMed ID: 15730038
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.
    Muller VJ; Paton BC; Fietz MJ
    Eur J Paediatr Neurol; 2001; 5 Suppl A():197-201. PubMed ID: 11588997
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.
    Sohar I; Sleat DE; Jadot M; Lobel P
    J Neurochem; 1999 Aug; 73(2):700-11. PubMed ID: 10428067
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
    Bessa C; Teixeira CA; Mangas M; Dias A; Sá Miranda MC; Guimarães A; Ferreira JC; Canas N; Cabral P; Ribeiro MG
    Mol Genet Metab; 2006 Nov; 89(3):245-53. PubMed ID: 16814585
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ; Buckley DJ; MacMillan A; Marshall HD; Steele L; Ray PN; Nawaz Z; Baskin B; Frecker M; Carr SM; Ives E; Parfrey PS
    Clin Genet; 2008 Sep; 74(3):213-22. PubMed ID: 18684116
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
    Sima N; Li R; Huang W; Xu M; Beers J; Zou J; Titus S; Ottinger EA; Marugan JJ; Xie X; Zheng W
    Orphanet J Rare Dis; 2018 Apr; 13(1):54. PubMed ID: 29631617
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The genetic spectrum of human neuronal ceroid-lipofuscinoses.
    Mole SE
    Brain Pathol; 2004 Jan; 14(1):70-6. PubMed ID: 14997939
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
    Getty AL; Pearce DA
    Cell Mol Life Sci; 2011 Feb; 68(3):453-74. PubMed ID: 20680390
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Human pathology in NCL.
    Anderson GW; Goebel HH; Simonati A
    Biochim Biophys Acta; 2013 Nov; 1832(11):1807-26. PubMed ID: 23200925
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
    Mole SE; Mitchison HM; Munroe PB
    Hum Mutat; 1999; 14(3):199-215. PubMed ID: 10477428
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
    Lojewski X; Staropoli JF; Biswas-Legrand S; Simas AM; Haliw L; Selig MK; Coppel SH; Goss KA; Petcherski A; Chandrachud U; Sheridan SD; Lucente D; Sims KB; Gusella JF; Sondhi D; Crystal RG; Reinhardt P; Sterneckert J; Schöler H; Haggarty SJ; Storch A; Hermann A; Cotman SL
    Hum Mol Genet; 2014 Apr; 23(8):2005-22. PubMed ID: 24271013
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
    Hofmann SL; Atashband A; Cho SK; Das AK; Gupta P; Lu JY
    Curr Mol Med; 2002 Aug; 2(5):423-37. PubMed ID: 12125808
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
    Chen ZR; Liu DT; Meng H; Liu L; Bian WJ; Liu XR; Zhu WW; He Y; Wang J; Tang B; Su T; Yi YH
    Seizure; 2019 Jul; 69():180-185. PubMed ID: 31059981
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.
    Wiśniewski KE; Zhong N; Kida E; Kaczmarski W; Kaczmarski A; Connell F; Brooks SS; Brown WT
    Folia Neuropathol; 1997; 35(2):73-9. PubMed ID: 9377079
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.
    Leman AR; Polochock S; Mole SE; Pearce DA; Rothberg PG
    J Neurosci Methods; 2006 Oct; 157(1):124-31. PubMed ID: 16720047
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The molecular genetic basis of the neuronal ceroid lipofuscinoses.
    Gardiner RM
    Neurol Sci; 2000; 21(3 Suppl):S15-9. PubMed ID: 11073223
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.