Mole SE - Search Results

1

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

Haines RL, Codlin S, Mole SE. Haines RL, et al. Among authors: mole se. Dis Model Mech. 2009 Jan-Feb;2(1-2):84-92. doi: 10.1242/dmm.000851. Epub 2008 Dec 22. Dis Model Mech. 2009. PMID: 19132115 Free PMC article.

2

Prenatal diagnosis of Batten's disease.

Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I. Munroe PB, et al. Among authors: mole se. Lancet. 1996 Apr 13;347(9007):1014-5. doi: 10.1016/s0140-6736(96)90148-8. Lancet. 1996. PMID: 8606564

3

A model for Batten disease protein CLN3: functional implications from homology and mutations.

Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA. Janes RW, et al. Among authors: mole se. FEBS Lett. 1996 Dec 9;399(1-2):75-7. doi: 10.1016/s0014-5793(96)01290-2. FEBS Lett. 1996. PMID: 8980123 Free article.

4

Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.

Mitchison HM, Taschner PE, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE. Mitchison HM, et al. Among authors: mole se. Neuropediatrics. 1997 Feb;28(1):12-4. doi: 10.1055/s-2007-973656. Neuropediatrics. 1997. PMID: 9151311

5

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.

6

Batten disease: four genes and still counting.

Mole SE. Mole SE. Neurobiol Dis. 1998 Nov;5(5):287-303. doi: 10.1006/nbdi.1998.0209. Neurobiol Dis. 1998. PMID: 10069573 Review.

7

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.

8

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).

Mitchison HM, Mole SE. Mitchison HM, et al. Among authors: mole se. Curr Opin Neurol. 2001 Dec;14(6):795-803. doi: 10.1097/00019052-200112000-00019. Curr Opin Neurol. 2001. PMID: 11723391 Review.

9

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Sharp JD, et al. Among authors: mole se. Hum Mutat. 2003 Jul;22(1):35-42. doi: 10.1002/humu.10227. Hum Mutat. 2003. PMID: 12815591

10

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.

Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF. Mole SE, et al. Exp Cell Res. 2004 Aug 15;298(2):399-406. doi: 10.1016/j.yexcr.2004.04.042. Exp Cell Res. 2004. PMID: 15265688

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