BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

298 related articles for article (PubMed ID: 9458173)

  • 1. The neuronal ceroid-lipofuscinoses. Recent advances.
    Goebel HH; Sharp JD
    Brain Pathol; 1998 Jan; 8(1):151-62. PubMed ID: 9458173
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
    Sharp JD; Wheeler RB; Lake BD; Savukoski M; Järvelä IE; Peltonen L; Gardiner RM; Williams RE
    Hum Mol Genet; 1997 Apr; 6(4):591-5. PubMed ID: 9097964
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses.
    Zhong NA; Wisniewski KE; Ju W; Moroziewicz DN; Jurkiewicz A; McLendon L; Jenkins EC; Brown WT
    Genet Test; 2000; 4(3):243-8. PubMed ID: 11142754
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP; Bagh MB; Sadhukhan T; Mondal A; Casey S; Mukherjee AB
    J Inherit Metab Dis; 2019 Sep; 42(5):944-954. PubMed ID: 31025705
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The neuronal ceroid-lipofuscinoses.
    Goebel HH
    Semin Pediatr Neurol; 1996 Dec; 3(4):270-8. PubMed ID: 8969009
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neuronal ceroid lipofuscinoses: classification and diagnosis.
    Wisniewski KE; Kida E; Golabek AA; Kaczmarski W; Connell F; Zhong N
    Adv Genet; 2001; 45():1-34. PubMed ID: 11332767
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil.
    Puga AC; Jardim LB; Chimelli L; De Souza CF; Clivati M
    Arq Neuropsiquiatr; 2000 Sep; 58(3A):597-606. PubMed ID: 10973097
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetics of the neuronal ceroid lipofuscinoses.
    Mole S; Gardiner M
    Epilepsia; 1999; 40 Suppl 3():29-32. PubMed ID: 10446748
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
    Williams R; Santavuori P; Peltonen L; Gardiner RM; Järvelä I
    Genomics; 1994 Mar; 20(2):289-90. PubMed ID: 8020979
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.
    Zhong N
    Mol Genet Metab; 2000; 71(1-2):195-206. PubMed ID: 11001811
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
    Wisniewski KE; Zhong N; Philippart M
    Neurology; 2001 Aug; 57(4):576-81. PubMed ID: 11548735
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal ultrastructural diagnosis in the neuronal ceroid-lipofuscinoses.
    Goebel HH
    Pathol Res Pract; 1994 Aug; 190(7):728-33. PubMed ID: 7808971
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
    Sharp J; Savukoski M; Wheeler RB; Harris J; Järvelä I; Peltonen L; Gardiner M; Williams R
    Am J Med Genet; 1995 Jun; 57(2):348-9. PubMed ID: 7668361
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
    Williams R; Vesa J; Järvelä I; McKay T; Mitchison H; Hellsten E; Thompson A; Callen D; Sutherland G; Luna-Battadano D
    Am J Hum Genet; 1993 Oct; 53(4):931-5. PubMed ID: 8213822
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.
    Kida E; Golabek AA; Wisniewski KE
    Adv Genet; 2001; 45():35-68. PubMed ID: 11332776
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. The neuronal ceroid-lipofuscinoses.
    Bennett MJ; Rakheja D
    Dev Disabil Res Rev; 2013; 17(3):254-9. PubMed ID: 23798013
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.