BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 10862088)

  • 1. A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.
    Tessa A; Simonati A; Tavoni A; Bertini E; Santorelli FM
    Hum Mutat; 2000 Jun; 15(6):577. PubMed ID: 10862088
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
    Hartikainen JM; Ju W; Wisniewski KE; Moroziewicz DN; Kaczmarski AL; McLendon L; Zhong D; Suarez CT; Brown WT; Zhong N
    Mol Genet Metab; 1999 Jun; 67(2):162-8. PubMed ID: 10356316
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
    Berry-Kravis E; Sleat DE; Sohar I; Meyer P; Donnelly R; Lobel P
    Ann Neurol; 2000 Feb; 47(2):254-7. PubMed ID: 10665500
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.
    Lin L; Lobel P
    Hum Mutat; 2001 Aug; 18(2):165. PubMed ID: 11462245
    [TBL] [Abstract][Full Text] [Related]  

  • 5. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
    Barisić N; Logan P; Pikija S; Skarpa D; Blau N
    Croat Med J; 2003 Aug; 44(4):489-93. PubMed ID: 12950156
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
    Steinfeld R; Steinke HB; Isbrandt D; Kohlschütter A; Gärtner J
    Hum Mol Genet; 2004 Oct; 13(20):2483-91. PubMed ID: 15317752
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
    Steinfeld R; Heim P; von Gregory H; Meyer K; Ullrich K; Goebel HH; Kohlschütter A
    Am J Med Genet; 2002 Nov; 112(4):347-54. PubMed ID: 12376936
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis.
    Worgall S; Kekatpure MV; Heier L; Ballon D; Dyke JP; Shungu D; Mao X; Kosofsky B; Kaplitt MG; Souweidane MM; Sondhi D; Hackett NR; Hollmann C; Crystal RG
    Neurology; 2007 Aug; 69(6):521-35. PubMed ID: 17679671
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.
    Liu CG; Sleat DE; Donnelly RJ; Lobel P
    Genomics; 1998 Jun; 50(2):206-12. PubMed ID: 9653647
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
    Tsiakas K; Steinfeld R; Storch S; Ezaki J; Lukacs Z; Kominami E; Kohlschütter A; Ullrich K; Braulke T
    Glycobiology; 2004 Apr; 14(4):1C-5C. PubMed ID: 14736728
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis.
    Ezaki J; Takeda-Ezaki M; Oda K; Kominami E
    Biochem Biophys Res Commun; 2000 Feb; 268(3):904-8. PubMed ID: 10679303
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case 27-2002: late-onset infantile neuronal ceroid lipofuscinosis.
    McBride KL
    N Engl J Med; 2003 May; 348(21):2159. PubMed ID: 12761381
    [No Abstract]   [Full Text] [Related]  

  • 13. Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
    Goldberg-Stern H; Halevi A; Marom D; Straussberg R; Mimouni-Bloch A
    Pediatr Neurol; 2009 Oct; 41(4):297-300. PubMed ID: 19748052
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.
    Koul R; Al-Futaisi A; Ganesh A; Rangnath Bushnarmuth S
    J Child Neurol; 2007 May; 22(5):555-9. PubMed ID: 17690061
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
    Bukina AM; Tsvetkova IV; Semiachkina AN; Il'ina ES
    Vopr Med Khim; 2002; 48(6):594-8. PubMed ID: 12698559
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi.
    Young EP; Winchester BG; Peter Logan W; Wheeler RB; Lake BD
    Prenat Diagn; 2000 Apr; 20(4):337-9. PubMed ID: 10740208
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.
    Crystal RG; Sondhi D; Hackett NR; Kaminsky SM; Worgall S; Stieg P; Souweidane M; Hosain S; Heier L; Ballon D; Dinner M; Wisniewski K; Kaplitt M; Greenwald BM; Howell JD; Strybing K; Dyke J; Voss H
    Hum Gene Ther; 2004 Nov; 15(11):1131-54. PubMed ID: 15610613
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
    Zhong N; Wisniewski KE; Hartikainen J; Ju W; Moroziewicz DN; McLendon L; Sklower Brooks SS; Brown WT
    Clin Genet; 1998 Sep; 54(3):234-8. PubMed ID: 9788728
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
    Yu F; Liu XM; Chen YH; Zhang SQ; Wang K
    Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.