207 related articles for article (PubMed ID: 12483876)
1. [Kufs' disease].
Nagasato K
Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):258-61. PubMed ID: 12483876
[No Abstract] [Full Text] [Related]
2. [Spielmeyer-Vogt-Sjögren disease].
Saitoh S
Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):255-7. PubMed ID: 12483875
[No Abstract] [Full Text] [Related]
3. [Jansky-Bielschowsky disease].
Saitoh S
Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):252-4. PubMed ID: 12483874
[No Abstract] [Full Text] [Related]
4. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE; Mitchison HM; Munroe PB
Hum Mutat; 1999; 14(3):199-215. PubMed ID: 10477428
[TBL] [Abstract][Full Text] [Related]
5. [Neuronal ceroid lipofuscinosis (NCL, Batten's disease)].
Ohno K
Ryoikibetsu Shokogun Shirizu; 2000; (29 Pt 4):486-8. PubMed ID: 11032003
[No Abstract] [Full Text] [Related]
6. 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]
7. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
Chattopadhyay S; Pearce DA
Mol Genet Metab; 2000; 71(1-2):207-11. PubMed ID: 11001812
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Neuronal ceroid lipofuscinosis/Batten disease: the lysosomal proteinoses.
Gupta P; Hofmann SL
Mol Psychiatry; 2002; 7(5):434-6. PubMed ID: 12082556
[No 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. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
Taschner PE; Losekoot M; Breuning MH; Hofman I; van Diggelen OP
Ned Tijdschr Geneeskd; 2005 Feb; 149(6):300-3. PubMed ID: 15730038
[TBL] [Abstract][Full Text] [Related]
12. The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE
Brain Pathol; 2004 Jan; 14(1):70-6. PubMed ID: 14997939
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. The molecular genetic basis of the neuronal ceroid lipofuscinoses.
Gardiner RM
Neurol Sci; 2000; 21(3 Suppl):S15-9. PubMed ID: 11073223
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Neuronal ceroid lipofuscinoses: research update.
Wisniewski KE; Kida E; Connell F; Zhong N
Neurol Sci; 2000; 21(3 Suppl):S49-56. PubMed ID: 11073228
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [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]
[Next] [New Search]
