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Items: 16

1.

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.

PMID:
25387857
2.

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.

3.

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.

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.

Reliability and validity of the Wolfram Unified Rating Scale (WURS).

Nguyen C, Foster ER, Paciorkowski AR, Viehoever A, Considine C, Bondurant A, Marshall BA, Hershey T; Washington University Wolfram Study Group.

Orphanet J Rare Dis. 2012 Nov 14;7:89. doi: 10.1186/1750-1172-7-89.

6.

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL.

PLoS One. 2012;7(6):e38310. doi: 10.1371/journal.pone.0038310. Epub 2012 Jun 6.

7.

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.

8.

Quantitative telemedicine ratings in Batten disease: implications for rare disease research.

Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW.

Neurology. 2011 Nov 15;77(20):1808-11. doi: 10.1212/WNL.0b013e3182377e29. Epub 2011 Oct 19.

9.

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.

10.

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.

11.

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI.

Curr Pharm Biotechnol. 2011 Jun;12(6):867-83. doi: 1389-2010/11 $58.00+.00. Review.

12.

Research challenges in central nervous system manifestations of inborn errors of metabolism.

Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC.

Mol Genet Metab. 2011 Mar;102(3):326-38. doi: 10.1016/j.ymgme.2010.11.164. Epub 2010 Dec 2. Review.

13.

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.

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.

Analysis of NCL Proteins from an Evolutionary Standpoint.

Muzaffar NE, Pearce DA.

Curr Genomics. 2008 Apr;9(2):115-36. doi: 10.2174/138920208784139573.

16.

Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies.

Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW.

J Child Neurol. 2007 May;22(5):621-7.

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