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Items: 1 to 20 of 105

1.

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.

2.

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.

3.

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.

4.

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
5.

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.

6.

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.

7.

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.

8.

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.

9.

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M.

J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323-7. Epub 2011 Apr 16.

PMID:
21499717
10.

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

de Voer G, van der Bent P, Rodrigues AJ, van Ommen GJ, Peters DJ, Taschner PE.

J Inherit Metab Dis. 2005;28(6):1065-80.

PMID:
16435200
11.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P.

Eur J Med Genet. 2015 Oct;58(10):540-4. doi: 10.1016/j.ejmg.2015.09.002. Epub 2015 Sep 7.

PMID:
26360874
12.

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.

Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA.

Neurosci Lett. 2005 Oct 21;387(2):111-4.

PMID:
16087292
13.

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
14.

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.

15.

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.

16.

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.

17.

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
18.

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE.

Hum Mol Genet. 2008 Jan 15;17(2):303-12. Epub 2007 Oct 18.

PMID:
17947292
19.

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Ostergaard JR, Rasmussen TB, Mølgaard H.

Neurology. 2011 Apr 5;76(14):1245-51. doi: 10.1212/WNL.0b013e31821435bd.

PMID:
21464428
20.

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.

de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.

J Child Neurol. 2004 Jan;19(1):42-6.

PMID:
15032383

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