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Items: 1 to 20 of 153

1.

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.

Wang YL, Zeng ZY, Song XW, Hao ZF, Shi YW, Tang B, Chen SQ, Gao MM, Di W, Long YS, Yi YH, Liao WP.

Neurogenetics. 2011 Feb;12(1):93-5. doi: 10.1007/s10048-010-0258-1. Epub 2010 Sep 7. No abstract available.

PMID:
20820830
2.

Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.

Kohan R, Muller VJ, Fietz MJ, Cismondi AI, Oller Ramírez AM, Halac IN.

Hum Genet. 2008 Jun;123(5):553. No abstract available.

PMID:
20960655
3.

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
4.

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.

Pediatr Neurol. 2009 Oct;41(4):297-300. doi: 10.1016/j.pediatrneurol.2009.04.022.

PMID:
19748052
5.

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Kohan R, Cismondi IA, Kremer RD, Muller VJ, Guelbert N, Anzolini VT, Fietz MJ, Ramírez AM, Halac IN.

Clin Genet. 2009 Oct;76(4):372-82. doi: 10.1111/j.1399-0004.2009.01214.x.

PMID:
19793312
6.

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I.

Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12.058. Epub 2012 Dec 22.

7.

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ.

Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11.

PMID:
23418007
8.

Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.

Chang X, Huang Y, Meng H, Jiang Y, Wu Y, Xiong H, Wang S, Qin J.

Brain Dev. 2012 Oct;34(9):739-45. doi: 10.1016/j.braindev.2011.12.005. Epub 2012 Jan 14.

PMID:
22245569
9.

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
10.

[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES.

Vopr Med Khim. 2002 Nov-Dec;48(6):594-8. Russian.

PMID:
12698559
11.

Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.

Whiting RE, Pearce JW, Castaner LJ, Jensen CA, Katz RJ, Gilliam DH, Katz ML.

Exp Eye Res. 2015 May;134:123-32. doi: 10.1016/j.exer.2015.02.012. Epub 2015 Feb 16.

12.

Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency.

Le NM, Parikh S.

J Child Neurol. 2012 Feb;27(2):234-7. doi: 10.1177/0883073811419261. Epub 2011 Sep 22.

PMID:
21940688
13.

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.

14.

A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation.

Mahmood F, Fu S, Cooke J, Wilson SW, Cooper JD, Russell C.

Brain. 2013 May;136(Pt 5):1488-507. doi: 10.1093/brain/awt043. Epub 2013 Apr 15.

15.

Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).

Katz ML, Coates JR, Sibigtroth CM, Taylor JD, Carpentier M, Young WM, Wininger FA, Kennedy D, Vuillemenot BR, O'Neill CA.

J Neurosci Res. 2014 Nov;92(11):1591-8. doi: 10.1002/jnr.23423. Epub 2014 Jun 17.

16.

Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.

Pérez-Poyato MS, Marfa MP, Abizanda IF, Rodriguez-Revenga L, Sánchez VC, González MJ, Puñal JE, Pérez AV, González MM, Bermejo AM, Hernández EM, Rosell MJ, Gort L, Milá M.

J Child Neurol. 2013 Apr;28(4):470-8. doi: 10.1177/0883073812448459. Epub 2012 Jul 25.

PMID:
22832778
17.

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.

18.

Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.

Koul R, Al-Futaisi A, Ganesh A, Rangnath Bushnarmuth S.

J Child Neurol. 2007 May;22(5):555-9.

PMID:
17690061
19.

Neuronal ceroid lipofuscinoses: research update.

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

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

PMID:
11073228
20.
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