128 related articles for article (PubMed ID: 12483875)
21. 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]
22. 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]
23. 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]
24. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
Vesa J; Chin MH; Oelgeschläger K; Isosomppi J; DellAngelica EC; Jalanko A; Peltonen L
Mol Biol Cell; 2002 Jul; 13(7):2410-20. PubMed ID: 12134079
[TBL] [Abstract][Full Text] [Related]
25. Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis.
Katz ML; Johnson GS
Eur J Paediatr Neurol; 2001; 5 Suppl A():109-14. PubMed ID: 11588979
[TBL] [Abstract][Full Text] [Related]
26. Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.
Kyttälä A; Lahtinen U; Braulke T; Hofmann SL
Biochim Biophys Acta; 2006 Oct; 1762(10):920-33. PubMed ID: 16839750
[TBL] [Abstract][Full Text] [Related]
27. Biochemistry of neuronal ceroid lipofuscinoses.
Junaid MA; Pullarkat RK
Adv Genet; 2001; 45():93-106. PubMed ID: 11332778
[TBL] [Abstract][Full Text] [Related]
28. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE; Williams RE; Goebel HH
Neurogenetics; 2005 Sep; 6(3):107-26. PubMed ID: 15965709
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons.
Dhar S; Bitting RL; Rylova SN; Jansen PJ; Lockhart E; Koeberl DD; Amalfitano A; Boustany RM
Ann Neurol; 2002 Apr; 51(4):448-66. PubMed ID: 11921051
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. 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]
36. [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]
37. Searching for interacting partners of CLN1, CLN2 and Btn1p with the two-hybrid system.
Cottone CD; Chattopadhyay S; Pearce DA
Eur J Paediatr Neurol; 2001; 5 Suppl A():95-8. PubMed ID: 11589016
[TBL] [Abstract][Full Text] [Related]
38. Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.
Ko CH; Kong CK; Chow TC; Lee KC
Hong Kong Med J; 2001 Mar; 7(1):93-6. PubMed ID: 11406682
[TBL] [Abstract][Full Text] [Related]
39. A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis.
Junaid MA; Sklower Brooks S; Wisniewski KE; Pullarkat RK
Clin Chim Acta; 1999 Mar; 281(1-2):169-76. PubMed ID: 10217638
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]