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Results: 1 to 20 of 441

1.

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. Epub 2006 Jun 30.

PMID:
16814585
[PubMed - indexed for MEDLINE]
2.

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Teixeira C, Guimarães A, Bessa C, Ferreira MJ, Lopes L, Pinto E, Pinto R, Boustany RM, Sá Miranda MC, Ribeiro MG.

J Neurol. 2003 Jun;250(6):661-7.

PMID:
12796825
[PubMed - indexed for MEDLINE]
3.

Neuronal ceroid lipofuscinoses: research update.

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

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

PMID:
11073228
[PubMed - indexed for MEDLINE]
4.

The genetic spectrum of human neuronal ceroid-lipofuscinoses.

Mole SE.

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

PMID:
14997939
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
12134079
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

[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
[PubMed - indexed for MEDLINE]
8.

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L.

Nat Genet. 1998 Jul;19(3):286-8.

PMID:
9662406
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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. doi: 10.1111/j.1399-0004.2008.01054.x. Epub 2008 Aug 4.

PMID:
18684116
[PubMed - indexed for MEDLINE]
11.

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 Sep-Oct;71(1-2):207-11. Review.

PMID:
11001812
[PubMed - indexed for MEDLINE]
12.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.

Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010.

PMID:
19309691
[PubMed - indexed for MEDLINE]
13.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.

Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.

PMID:
19201763
[PubMed - indexed for MEDLINE]
Free Article
14.

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

Bessa C, Teixeira CA, Dias A, Alves M, Rocha S, Lacerda L, Loureiro L, Guimarães A, Ribeiro MG.

Mol Genet Metab. 2008 Jan;93(1):66-73. Epub 2007 Oct 23.

PMID:
17959406
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
11921051
[PubMed - indexed for MEDLINE]
16.

Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.

Zhong N.

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

PMID:
11001811
[PubMed - indexed for MEDLINE]
17.

The molecular genetic basis of the neuronal ceroid lipofuscinoses.

Gardiner RM.

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

PMID:
11073223
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.

Houweling PJ, Cavanagh JA, Palmer DN, Frugier T, Mitchell NL, Windsor PA, Raadsma HW, Tammen I.

Biochim Biophys Acta. 2006 Oct;1762(10):890-7. Epub 2006 Jul 25.

PMID:
16935476
[PubMed - indexed for MEDLINE]
Free Article
20.

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

Schmiedt ML, Bessa C, Heine C, Ribeiro MG, Jalanko A, Kyttälä A.

Hum Mutat. 2010 Mar;31(3):356-65. doi: 10.1002/humu.21195.

PMID:
20052765
[PubMed - indexed for MEDLINE]

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