Neuronal Ceroid-Lipofuscinoses
This graph shows the total number of publications written about "Neuronal Ceroid-Lipofuscinoses" by people in the URMC Research Network by year, and whether "Neuronal Ceroid-Lipofuscinoses" was a major or minor topic of these publication.
Below are the most recent publications written about "Neuronal Ceroid-Lipofuscinoses" by people in Profiles.
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Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, de Blieck EA, Pearce DA, Mink JW. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Dev Med Child Neurol. 2010 Jul; 52(7):637-43.
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Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol. 2009 Jul-Aug; 54(4):463-71.
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Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. J Child Neurol. 2007 May; 22(5):621-7.
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Ramirez-Montealegre D, Rothberg PG, Pearce DA. Another disorder finds its gene. Brain. 2006 Jun; 129(Pt 6):1353-6.
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Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. J Neurosci Methods. 2006 Oct 15; 157(1):124-31.
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Adams H, de Blieck EA, Mink JW, Marshall FJ, Kwon J, Dure L, Rothberg PG, Ramirez-Montealegre D, Pearce DA. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2006 Apr; 48(4):259-64.
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Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci Lett. 2005 Oct 21; 387(2):111-4.
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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. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005 Jul 26; 65(2):275-9.
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Leman AR, Pearce DA, Rothberg PG. Gene symbol: CLN3. Disease: Juvenile neuronal ceroid lipofuscinosis (Batten disease). Hum Genet. 2005 May; 116(6):544.
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Ramirez-Montealegre D, Chattopadhyay S, Curran TM, Wasserfall C, Pritchard L, Schatz D, Petitto J, Hopkins D, She JX, Rothberg PG, Atkinson M, Pearce DA. Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Neurology. 2005 Feb 22; 64(4):743-5.
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