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URochester Medicine / Neurology / University of Rochester Batten Center (URBC) / Research / Publications

Selected Publications

Clinical Guidelines & Consensus Statements

  • Augustine EF, Adams HR, et al. Management of CLN1 Disease: International Clinical Management Guidelines. Pediatric Neurology. 2021.
  • Mink JW, Adams HR, Ahrens-Nicklas R, et al. Recommendations for the diagnosis and management of CLN3 disease (Batten disease) using the Delphi consensus methodology. Orphanet Journal of Rare Diseases. 2026.
  • Augustine EF, et al. Clinical management recommendations for CLN2 disease. [Consensus/Guideline publications involving international Batten disease experts and University of Rochester collaborators].

UBDRS & Clinical Outcome Measures

  • Marshall FJ, de Blieck EA, Mink JW, et al. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005.
  • Kwon JM, Adams H, Rothberg PG, et al. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011.
  • Wibbeler E, Augustine EF, Mink JW, et al. The Unified Batten Disease Rating Scale (UBDRS): validation and reliability in an independent CLN3 disease sample. European Journal of Paediatric Neurology. 2022.
  • Masten MC, Williams JD, Vermilion J, et al. The CLN3 Disease Staging System: A New Tool for Clinical Research in Batten Disease. Neurology. 2020.

Natural History & Disease Progression

  • Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. Journal of Child Neurology. 2013.
  • Cialone J, Augustine EF, Newhouse N, et al. Females experience a more severe disease course in Batten disease. Journal of Inherited Metabolic Disease. 2012.
  • Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ. Quantitative telemedicine ratings in Batten disease: implications for rare disease research. Neurology. 2011.

Neurobehavioral & Cognitive Research

  • Adams HR, Kwon JM, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Neuropsychological symptoms of juvenile-onset Batten disease: experiences from two studies. Journal of Child Neurology. 2007.
  • Adams HR, Beck CA, Kwon JM, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis. Developmental Medicine & Child Neurology. 2010.
  • Adams HR, Beck CA, Kwon JM, et al. Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). Journal of Child Neurology. 2013.
  • Adams HR, et al. Experience, knowledge, and opinions about childhood genetic testing in Batten disease families. Journal of Genetic Counseling. 2014.

Therapeutics & Clinical Trial Readiness

  • Augustine EF, Adams HR, Beck CA, et al. Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Developmental Medicine & Child Neurology. 2015.
  • Augustine EF, et al. Short-Term Administration of Mycophenolate Is Well Tolerated in CLN3 Disease. Journal of Child Neurology. 2019.
  • de Blieck EA, Augustine EF, Marshall FJ, et al. Methodology of clinical research in rare diseases. Journal of Inherited Metabolic Disease. 2013.


 This list highlights representative publications from University of Rochester investigators and collaborators and is not intended to be exhaustive.