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Items: 1 to 20 of 126

1.

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. Epub 2006 Jun 3. Review.

2.

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. Epub 2005 Sep 28. Review.

PMID:
15965709
3.

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. Review.

PMID:
10477428
4.

The molecular genetic basis of the neuronal ceroid lipofuscinoses.

Gardiner RM.

Neurol Sci. 2000;21(3 Suppl):S15-9. Review.

PMID:
11073223
5.

The genetic spectrum of human neuronal ceroid-lipofuscinoses.

Mole SE.

Brain Pathol. 2004 Jan;14(1):70-6. Review.

PMID:
14997939
6.

Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.

Kida E, Golabek AA, Wisniewski KE.

Adv Genet. 2001;45:35-68. Review.

PMID:
11332776
7.

Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.

Zhong N.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):195-206. Review.

PMID:
11001811
8.

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.

Getty AL, Pearce DA.

Cell Mol Life Sci. 2011 Feb;68(3):453-74. doi: 10.1007/s00018-010-0468-6. Epub 2010 Aug 1. Review.

9.

[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 5;149(6):300-3. Review. Dutch.

PMID:
15730038
10.

Biochemistry of neuronal ceroid lipofuscinoses.

Junaid MA, Pullarkat RK.

Adv Genet. 2001;45:93-106. Review.

PMID:
11332778
11.

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.

PMID:
11588979
12.

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
13.
14.

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.

15.

Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins.

Suopanki J, Partanen S, Ezaki J, Baumann M, Kominami E, Tyynelä J.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):190-4. Review.

PMID:
11001810
16.

A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins.

Wang P, Ju W, Wu D, Wang L, Yan M, Zou J, He B, Jenkins EC, Brown WT, Zhong N.

J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Feb 15;879(5-6):304-16. doi: 10.1016/j.jchromb.2010.12.011. Epub 2010 Dec 23.

PMID:
21242110
17.

Neuronal ceroid lipofuscinoses.

Jalanko A, Braulke T.

Biochim Biophys Acta. 2009 Apr;1793(4):697-709. doi: 10.1016/j.bbamcr.2008.11.004. Epub 2008 Nov 24. Review.

18.

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL.

Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23.

19.

[Neuronal ceroid lipofuscinosis (NCL, Batten's disease)].

Ohno K.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):486-8. Review. Japanese. No abstract available.

PMID:
11032003
20.

Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.

Sleat DE, Gedvilaite E, Zhang Y, Lobel P, Xing J.

Gene. 2016 Nov 30;593(2):284-91. doi: 10.1016/j.gene.2016.08.031. Epub 2016 Aug 20.

PMID:
27553520

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