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Items: 1 to 20 of 110

1.

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.

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.

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.

4.

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.

5.

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
6.

Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).

Aldrich A, Bosch ME, Fallet R, Odvody J, Burkovetskaya M, Rama Rao KV, Cooper JD, Drack AV, Kielian T.

Ann Neurol. 2016 Dec;80(6):909-923. doi: 10.1002/ana.24815. Epub 2016 Nov 23.

7.

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
8.

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.

9.

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.

10.

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
11.

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
12.

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.

Chan CH, Mitchison HM, Pearce DA.

Hum Mol Genet. 2008 Nov 1;17(21):3332-9. doi: 10.1093/hmg/ddn228. Epub 2008 Aug 4.

13.
14.

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.

15.

Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.

Augustine EF, Adams HR, Beck CA, Vierhile A, Kwon J, Rothberg PG, Marshall F, Block R, Dolan J, Mink JW; Batten Study Group.

Dev Med Child Neurol. 2015 Apr;57(4):366-71. doi: 10.1111/dmcn.12634. Epub 2014 Nov 11.

16.

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M.

Clin Genet. 2009 Jul;76(1):38-45. doi: 10.1111/j.1399-0004.2009.01179.x. Epub 2009 May 21.

PMID:
19489875
17.

Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease.

Kriscenski-Perry E, Applegate CD, Serour A, Mhyre TR, Leonardo CC, Pearce DA.

Epilepsia. 2002 Oct;43(10):1137-40.

18.

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.

19.

Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience.

Nielsen AK, Østergaard JR.

Eur J Paediatr Neurol. 2013 May;17(3):265-8. doi: 10.1016/j.ejpn.2012.10.011. Epub 2012 Nov 21.

PMID:
23177590
20.

Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease.

Osório NS, Sampaio-Marques B, Chan CH, Oliveira P, Pearce DA, Sousa N, Rodrigues F.

Genes Brain Behav. 2009 Apr;8(3):337-45. doi: 10.1111/j.1601-183X.2009.00478.x. Epub 2009 Feb 19.

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