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Items: 1 to 20 of 150

1.

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
2.

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
3.
4.

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.

5.

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

Yu F, Liu XM, Chen YH, Zhang SQ, Wang K.

Neurol Sci. 2015 Oct;36(10):1917-9. doi: 10.1007/s10072-015-2272-4. Epub 2015 Jun 2. No abstract available.

PMID:
26032578
6.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N.

Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25.

7.

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
8.

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
9.

[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
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.

PMID:
10665500
11.

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
13.

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
14.

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
15.

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
16.

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.

17.

Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation.

Saini AG, Sankhyan N, Singhi P.

Pediatr Neurol. 2016 Jul;60:75-8. doi: 10.1016/j.pediatrneurol.2016.02.015. Epub 2016 Mar 4.

PMID:
27343025
18.

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
19.

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.

20.

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

Kohlschütter A, Schulz A.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:682-8. Review.

PMID:
27491216

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