Publications

The NCL database contributes to scientific publications on Batten Disease.

We write reviews of CLN genes, highlighting the spectrum of mutations and disease phenotypes. Papers and posters that we have authored or contributed to recently are below.

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants Dobloug S, Kjellström U, Anderson G, Gardner E, Mole SE, Sheth J, Puschmann A. (2024) Molecular Genetics & Genomic Medicine 

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses Gardner, E., & Mole, S. E. (2021).  Frontiers in Neurology

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world Lourenço, C. M., Pessoa, A., Mendes, C. C., Rivera-Nieto, C., Vergara, D., Troncoso, M., . . . Mole, S. E. (2021).  Journal of Paediatrics and Child Health 

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease Gardner, E., Bailey, M., Schulz, A., Aristorena, M., Miller, N., & Mole, S. E. (2019).  Human Mutation

Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwide. Mole, S. E., Gardner, E., Schulz, A., & Xin, W. W. (2018). Presented at: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium