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Items: 1 to 20 of 153

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. Epub 2013 Apr 26.

2.

Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW.

Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.

3.

Funding resources for rare disease research.

Stehr F, Forkel M.

Biochim Biophys Acta. 2013 Nov;1832(11):1910-2. doi: 10.1016/j.bbadis.2013.04.016. Epub 2013 Apr 19.

4.

Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.

Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW.

J Inherit Metab Dis. 2011 Oct;34(5):1075-81. doi: 10.1007/s10545-011-9346-0. Epub 2011 May 10.

5.

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, de Blieck EA, Pearce DA, Mink JW.

Dev Med Child Neurol. 2010 Jul;52(7):637-43. doi: 10.1111/j.1469-8749.2010.03628.x. Epub 2010 Feb 19. Erratum in: Dev Med Child Neurol. 2010 Oct;52(10):890.

6.

A clinical rating scale for Batten disease: reliable and relevant for clinical trials.

Marshall FJ, de Blieck EA, Mink JW, Dure L, Adams H, Messing S, Rothberg PG, Levy E, McDonough T, DeYoung J, Wang M, Ramirez-Montealegre D, Kwon JM, Pearce DA.

Neurology. 2005 Jul 26;65(2):275-9.

PMID:
16043799
7.

Clinical trials in rare disease: challenges and opportunities.

Augustine EF, Adams HR, Mink JW.

J Child Neurol. 2013 Sep;28(9):1142-50. doi: 10.1177/0883073813495959.

8.

Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.

Tokola AM, Salli EK, Åberg LE, Autti TH.

Pediatr Neurol. 2014 Feb;50(2):158-63. doi: 10.1016/j.pediatrneurol.2013.10.013. Epub 2013 Oct 30.

PMID:
24411222
9.

Females experience a more severe disease course in Batten disease.

Cialone J, Adams H, Augustine EF, Marshall FJ, Kwon JM, Newhouse N, Vierhile A, Levy E, Dure LS, Rose KR, Ramirez-Montealegre D, de Blieck EA, Mink JW.

J Inherit Metab Dis. 2012 May;35(3):549-55. doi: 10.1007/s10545-011-9421-6. Epub 2011 Dec 14. Erratum in: J Inherit Metab Dis. 2012 May;35(3):559.

10.

Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.

Ragbeer SN, Augustine EF, Mink JW, Thatcher AR, Vierhile AE, Adams HR.

J Child Neurol. 2016 Mar;31(4):481-7. doi: 10.1177/0883073815600863. Epub 2015 Sep 2.

11.

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.

12.

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.

Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL.

J Biol Chem. 2015 Jun 5;290(23):14361-80. doi: 10.1074/jbc.M114.621706. Epub 2015 Apr 15.

13.

First African-American child with juvenile neuronal ceroid lipofuscinosis.

Inan C, Wong D, Wisniewski KE, Rose AL, Musarella MA.

Am J Med Genet. 1998 Oct 12;79(5):335-6.

PMID:
9779797
14.

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.

15.

Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).

Ouseph MM, Kleinman ME, Wang QJ.

Ann N Y Acad Sci. 2016 May;1371(1):55-67. doi: 10.1111/nyas.12990. Epub 2016 Jan 8. Review.

16.

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. Epub 2013 Jun 6. Review.

17.

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
18.

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
19.

Linkage analysis in juvenile neuronal ceroid lipofuscinosis.

Haines JL, Yan WL, Boustany RM, Jewell A, Julier C, Breakefield XO, Gusella JF.

Am J Med Genet. 1992 Feb 15;42(4):542-5.

PMID:
1609835
20.

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. Epub 2013 Mar 5. Review.

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