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Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
Butz ES, Chandrachud U, Mole SE, Cotman SL. Butz ES, et al. Among authors: mole se. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165571. doi: 10.1016/j.bbadis.2019.165571. Epub 2019 Oct 31. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31678159 Free article. Review.
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM. Mitchison HM, et al. Among authors: mole se. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237
Neuronal ceroid lipofuscinoses.
Mole S. Mole S. Eur J Paediatr Neurol. 2001;5(5):211-2. doi: 10.1053/ejpn.2001.0514. Eur J Paediatr Neurol. 2001. PMID: 11585111 No abstract available.
147 results