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Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mole se. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
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. 1999;3(1):43-4. doi: 10.1053/ejpn.1999.0179. Eur J Paediatr Neurol. 1999. PMID: 10727192 Review. No abstract available.
New mutations in the neuronal ceroid lipofuscinosis genes.
Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Järvelä I, Taschner PE. Mole SE, et al. Eur J Paediatr Neurol. 2001;5 Suppl A:7-10. doi: 10.1053/ejpn.2000.0427. Eur J Paediatr Neurol. 2001. PMID: 11589012 Review.
149 results