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Items: 1 to 20 of 24

1.

Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.

de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW; Batten Study Group..

Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004.

2.

Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).

Adams HR, Mink JW; University of Rochester Batten Center Study Group..

J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813. Review.

3.

Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.

Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA.

Surv Ophthalmol. 2009 Jul-Aug;54(4):463-71. doi: 10.1016/j.survophthal.2009.04.007. Review.

4.

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).

Hawkins-Salsbury JA, Cooper JD, Sands MS.

Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 10.1016/j.bbadis.2013.05.026. Review.

5.

Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.

Rakheja D, Narayan SB, Bennett MJ.

Curr Mol Med. 2007 Sep;7(6):603-8. Review.

PMID:
17896996
6.

Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.

Wiśniewski KE, Zhong N, Kida E, Kaczmarski W, Kaczmarski A, Connell F, Brooks SS, Brown WT.

Folia Neuropathol. 1997;35(2):73-9. Review.

PMID:
9377079
7.

Juvenile neuronal ceroid lipofuscinosis and education.

von Tetzchner S, Fosse P, Elmerskog B.

Biochim Biophys Acta. 2013 Nov;1832(11):1894-905. doi: 10.1016/j.bbadis.2013.02.017. Review.

8.

Moving towards therapies for juvenile Batten disease?

Cooper JD.

Exp Neurol. 2008 Jun;211(2):329-31. doi: 10.1016/j.expneurol.2008.02.016. Review.

PMID:
18400221
9.
10.

Use of model organisms for the study of neuronal ceroid lipofuscinosis.

Bond M, Holthaus SM, Tammen I, Tear G, Russell C.

Biochim Biophys Acta. 2013 Nov;1832(11):1842-65. doi: 10.1016/j.bbadis.2013.01.009. Review.

11.

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Kmoch S, Stránecký V, Emes RD, Mitchison HM.

Biochim Biophys Acta. 2013 Nov;1832(11):1831-41. doi: 10.1016/j.bbadis.2012.12.010. Review.

12.

[Mechanisms of juvenile neuronal ceroid lipofuscinosis (JNCL)].

Wang SY, Jin WN, Wu D.

Yi Chuan. 2009 Aug;31(8):779-84. Review. Chinese.

PMID:
19689937
13.

Juvenile neuronal ceroid lipofuscinoses.

Wang S.

Adv Exp Med Biol. 2012;724:138-42. doi: 10.1007/978-1-4614-0653-2_11. Review.

PMID:
22411240
14.

Neuronal ceroid-lipofuscinoses: the current status.

Goebel HH.

Brain Dev. 1992 Jul;14(4):203-11. Review.

PMID:
1443397
15.

Human pathology in NCL.

Anderson GW, Goebel HH, Simonati A.

Biochim Biophys Acta. 2013 Nov;1832(11):1807-26. doi: 10.1016/j.bbadis.2012.11.014. Review.

16.

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

Warrier V, Vieira M, Mole SE.

Biochim Biophys Acta. 2013 Nov;1832(11):1827-30. doi: 10.1016/j.bbadis.2013.03.017. Review.

17.

Perspective of biochemical research in the neuronal ceroid-lipofuscinosis.

Rider JA, Dawson G, Siakotos AN.

Am J Med Genet. 1992 Feb 15;42(4):519-24. Review.

PMID:
1609832
18.

Phenol sulfotransferases: candidate genes for Batten disease.

Dooley TP, Probst P, Obermoeller RD, Siciliano MJ, Doggett NA, Callen DF, Mitchison HM, Mole SE.

Am J Med Genet. 1995 Jun 5;57(2):327-32. Review.

PMID:
7668357
19.

Large animal models for Batten disease: a review.

Weber K, Pearce DA.

J Child Neurol. 2013 Sep;28(9):1123-7. doi: 10.1177/0883073813493666. Review.

20.

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins.

Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T.

Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Review.

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