BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

742 related articles for article (PubMed ID: 17690061)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses.
    Kamate M; Prashanth GP; Hattiholi V
    Neurol India; 2012; 60(3):316-20. PubMed ID: 22824694
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Neuronal ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited.
    Wheeler RB; Schlie M; Kominami E; Gerhard L; Goebel HH
    Acta Neuropathol; 2001 Nov; 102(5):485-8. PubMed ID: 11699562
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. [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]  

  • 12. 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]  

  • 13. [Jansky-Bielschowsky disease].
    Saitoh S
    Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):252-4. PubMed ID: 12483874
    [No Abstract]   [Full Text] [Related]  

  • 14. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
    Pérez-Poyato MS; Marfa MP; Abizanda IF; Rodriguez-Revenga L; Sánchez VC; González MJ; Puñal JE; Pérez AV; González MM; Bermejo AM; Hernández EM; Rosell MJ; Gort L; Milá M
    J Child Neurol; 2013 Apr; 28(4):470-8. PubMed ID: 22832778
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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. 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]  

  • 18. 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]  

  • 19. Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs.
    Drögemüller C; Wöhlke A; Distl O
    Anim Genet; 2005 Apr; 36(2):178-9. PubMed ID: 15771740
    [No Abstract]   [Full Text] [Related]  

  • 20. Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
    Chang X; Huang Y; Meng H; Jiang Y; Wu Y; Xiong H; Wang S; Qin J
    Brain Dev; 2012 Oct; 34(9):739-45. PubMed ID: 22245569
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 38.