Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 161

1.
2.

Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2.

Katz ML, Liu PC, Grob-Nunn SE, Shibuya H, Johnson GS.

Mamm Genome. 1999 Nov;10(11):1050-3.

PMID:
10556422
4.

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P.

Science. 1997 Sep 19;277(5333):1802-5.

5.

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 1;99(2):161-3. No abstract available.

PMID:
11241479
6.

Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.

Haines JL, Boustany RM, Alroy J, Auger KJ, Shook KS, Terwedow H, Lerner TJ.

Neurogenetics. 1998 Mar;1(3):217-22.

PMID:
10737126
7.

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.

PMID:
10356316
8.

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.

PMID:
9788728
9.

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 15;13(20):2483-91.

PMID:
15317752
10.

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 13;24(41):9117-26.

11.

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. No abstract available.

13.

Neuronal ceroid lipofuscinoses: research update.

Wisniewski KE, Kida E, Connell F, Zhong N.

Neurol Sci. 2000;21(3 Suppl):S49-56. Review.

PMID:
11073228
14.

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.

PMID:
10665500
16.

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.

PMID:
11588997
17.

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.

PMID:
10862088
18.

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.

Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT.

Genet Med. 2000 Nov-Dec;2(6):312-8.

PMID:
11339651
19.
20.

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.

PMID:
15610613
Items per page

Supplemental Content

Support Center