These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 10737126)

  • 21. 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]  

  • 22. A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
    Sleat DE; Wiseman JA; El-Banna M; Kim KH; Mao Q; Price S; Macauley SL; Sidman RL; Shen MM; Zhao Q; Passini MA; Davidson BL; Stewart GR; Lobel P
    J Neurosci; 2004 Oct; 24(41):9117-26. PubMed ID: 15483130
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis.
    Bodzioch M; Aslanidis C; Kacinski M; Zhong N; Wisniewski KE; Schmitz G
    Clin Chem; 2000 Oct; 46(10):1696-9. PubMed ID: 11017954
    [No Abstract]   [Full Text] [Related]  

  • 24. A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase.
    Ezaki J; Tanida I; Kanehagi N; Kominami E
    J Neurochem; 1999 Jun; 72(6):2573-82. PubMed ID: 10349869
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
    Mitchell WA; Wheeler RB; Sharp JD; Bate SL; Gardiner RM; Ranta US; Lonka L; Williams RE; Lehesjoki AE; Mole SE
    Eur J Paediatr Neurol; 2001; 5 Suppl A():21-7. PubMed ID: 11589000
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Progress toward the cloning of CLN6, the gene underlying a variant LINCL.
    Auger KJ; Ajene A; Lerner T
    Mol Genet Metab; 1999 Apr; 66(4):332-6. PubMed ID: 10191124
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.
    Lam CW; Poon PM; Tong SF; Ko CH
    Am J Med Genet; 2001 Mar; 99(2):161-3. PubMed ID: 11241479
    [No Abstract]   [Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.
    Ju W; Zhong R; Moore S; Moroziewicz D; Currie JR; Parfrey P; Brown WT; Zhong N
    J Med Genet; 2002 Nov; 39(11):822-5. PubMed ID: 12414822
    [No Abstract]   [Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis.
    Lin L; Lobel P
    Biochem J; 2001 Jul; 357(Pt 1):49-55. PubMed ID: 11415435
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs.
    Lingaas F; Aarskaug T; Sletten M; Bjerkås I; Grimholt U; Moe L; Juneja RK; Wilton AN; Galibert F; Holmes NG; Dolf G
    Anim Genet; 1998 Oct; 29(5):371-6. PubMed ID: 9800325
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.
    Kleijer WJ; van Diggelen OP; Keulemans JL; Losekoot M; Garritsen VH; Stroink H; Majoor-Krakauer D; Franken PF; Eurlings MC; Taschner PE; Los FJ; Galjaard RJ
    Prenat Diagn; 2001 Feb; 21(2):99-101. PubMed ID: 11241534
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
    Wheeler RB; Sharp JD; Mitchell WA; Bate SL; Williams RE; Lake BD; Gardiner RM
    Mol Genet Metab; 1999 Apr; 66(4):337-8. PubMed ID: 10191125
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.