Mole SE - Search Results

1

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Mole SE, Williams RE, Goebel HH. Mole SE, et al. Neurogenetics. 2005 Sep;6(3):107-26. doi: 10.1007/s10048-005-0218-3. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 15965709 Review.

2

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.

Mole SE. Mole SE. J Inherit Metab Dis. 1996;19(3):269-74. doi: 10.1007/BF01799253. J Inherit Metab Dis. 1996. PMID: 8803767

3

Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.

Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mole se. Neuropediatrics. 1997 Feb;28(1):15-7. doi: 10.1055/s-2007-973657. Neuropediatrics. 1997. PMID: 9151312

4

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JB, Gardiner RM, Mole SE. O'Rawe A, et al. Among authors: mole se. Neuropediatrics. 1997 Feb;28(1):21-2. doi: 10.1055/s-2007-973659. Neuropediatrics. 1997. PMID: 9151314

5

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

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

A murine model for juvenile NCL: gene targeting of mouse Cln3.

Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. Greene ND, et al. Among authors: mole se. Mol Genet Metab. 1999 Apr;66(4):309-13. doi: 10.1006/mgme.1999.2828. Mol Genet Metab. 1999. PMID: 10191119

8

Molecular genetics of the neuronal ceroid lipofuscinoses.

Mole S, Gardiner M. Mole S, et al. Epilepsia. 1999;40 Suppl 3:29-32. doi: 10.1111/j.1528-1157.1999.tb00896.x. Epilepsia. 1999. PMID: 10446748 Free article. Review.

9

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE, Mitchison HM, Munroe PB. Mole SE, et al. Hum Mutat. 1999;14(3):199-215. doi: 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A. Hum Mutat. 1999. PMID: 10477428 Review.

10

Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses. London, UK, 13-16 November 1997. Report and abstracts.

Mole SE, Gardiner RM, Goebel HH. Mole SE, et al. Eur J Paediatr Neurol. 1998;2(2):A1-17. doi: 10.1016/s1090-3798(98)80052-4. Eur J Paediatr Neurol. 1998. PMID: 10724106 No abstract available.

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