Study Group Publication List

Adams HR, Rose K, Augustine EF, Kwon JM, Deblieck EA, Marshall FJ, Vierhile A, Mink JW, Nance MA. Experience, knowledge, and opinions about childhood genetic testing in Batten disease. Molecular genetics and metabolism 111(2):197-202, 2014.

Mink JW, Augustine EF, Adams HR, Marshall FJ, and Kwon JM. Classification and Natural History of the Neuronal Ceroid Lipofuscinoses. J Child Neurol 28: 1101-1105, 2013.

Dolisca SB, Mehta M, Pearce DA, Mink JW, and Maria BL. Batten Disease: Clinical Aspects, Molecular Mechanisms, Translational Science, and Future Directions. J Child Neurol 28: 1074-1100, 2013.

de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, and Mink JW. 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. Contemp Clin Trials 35: 48-54, 2013.

Augustine EF, Adams HR, and Mink JW. Clinical Trials in Rare Disease: Challenges and Opportunities. J Child Neurol 28: 1142-1150, 2013.

Adams HR, Mink JW, and Group UoRBCS. Neurobehavioral Features and Natural History of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease). J Child Neurol 28: 1128-1136, 2013.

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, and Mink JW. Females experience a more severe disease course in Batten disease. J Inherit Metab Dis 35: 549-555, 2012.

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, and Mink JW. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology 77: 1801-1807, 2011.

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, and Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab 102: 326-338, 2011.

Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, and Mink JW. Quantitative telemedicine ratings in Batten disease: implications for rare disease research. Neurology 77: 1808-1811, 2011.

Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, and Mink JW. Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. J Inherit Metab Dis 34: 1075-1081, 2011.

Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, de Blieck EA, Pearce DA, and Mink JW. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Dev Med Child Neurol 52: 637-643, 2010.

Getty AL, Rothberg PG, and Pearce DA. Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies. Expert Opin Med Diagn 1: 351-362, 2007.

Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, and Mink JW. Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. J Child Neurol 22: 621-627, 2007.

Leman AR, Polochock S, Mole SE, Pearce DA, and 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 157: 124-131, 2006.

Adams H, de Blieck EA, Mink JW, Marshall FJ, Kwon J, Dure L, Rothberg PG, Ramirez-Montealegre D, and Pearce DA. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol 48: 259-264, 2006.

Ramirez-Montealegre D, Chattopadhyay S, Curran TM, Wasserfall C, Pritchard L, Schatz D, Petitto J, Hopkins D, She JX, Rothberg PG, Atkinson M, and Pearce DA. Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Neurology 64: 743-745, 2005.

McClaskey JH, Leman AR, and Rothberg PG. Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. Genet Test 9: 1-5, 2005.

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, and Pearce DA. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology 65: 275-279, 2005.

Leman AR, Pearce DA, and Rothberg PG. Gene symbol: CLN3. Disease: juvenile neuronal ceroid lipofuscinosis (Batten disease). Hum Genet 116: 236, 2005.

Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, and Pearce DA. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci Lett 387: 111-114, 2005.

Rothberg PG, Ramirez-Montealegre D, Frazier SD, and Pearce DA. Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. J Mol Diagn 6: 260-263, 2004.