Donnelly RJ - Search Results

1

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P. Sleat DE, et al. Among authors: donnelly rj. Am J Hum Genet. 1999 Jun;64(6):1511-23. doi: 10.1086/302427. Am J Hum Genet. 1999. PMID: 10330339 Free PMC article.

2

Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P. Berry-Kravis E, et al. Ann Neurol. 2000 Feb;47(2):254-7. Ann Neurol. 2000. PMID: 10665500

3

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P. Sleat DE, et al. Among authors: donnelly rj. Science. 1997 Sep 19;277(5333):1802-5. doi: 10.1126/science.277.5333.1802. Science. 1997. PMID: 9295267

4

Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.

Liu CG, Sleat DE, Donnelly RJ, Lobel P. Liu CG, et al. Among authors: donnelly rj. Genomics. 1998 Jun 1;50(2):206-12. doi: 10.1006/geno.1998.5328. Genomics. 1998. PMID: 9653647

5

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Wang N, Zhang Y, Gedvilaite E, Loh JW, Lin T, Liu X, Liu CG, Kumar D, Donnelly R, Raymond K, Schuchman EH, Sleat DE, Lobel P, Xing J. Wang N, et al. Hum Mutat. 2017 Nov;38(11):1491-1499. doi: 10.1002/humu.23291. Epub 2017 Jul 25. Hum Mutat. 2017. PMID: 28703315 Free PMC article.

6

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

Tyynelä J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P. Tyynelä J, et al. Among authors: donnelly rj. EMBO J. 2000 Jun 15;19(12):2786-92. doi: 10.1093/emboj/19.12.2786. EMBO J. 2000. PMID: 10856224 Free PMC article.

7

Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme.

Tyynelä J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P. Tyynelä J, et al. Among authors: donnelly rj. Eur J Paediatr Neurol. 2001;5 Suppl A:43-5. doi: 10.1053/ejpn.2000.0433. Eur J Paediatr Neurol. 2001. PMID: 11589006

8

Genetic mapping of the gene for the mouse interferon-gamma receptor signaling subunit to the distal end of chromosome 16.

Mariano TM, Muthukumaran G, Donnelly RJ, Wang N, Adamson MC, Pestka S, Kozak CA. Mariano TM, et al. Among authors: donnelly rj. Mamm Genome. 1996 Apr;7(4):321-2. doi: 10.1007/s003359900093. Mamm Genome. 1996. PMID: 8661709 No abstract available.

9

Identification and sequence of an accessory factor required for activation of the human interferon gamma receptor.

Soh J, Donnelly RJ, Kotenko S, Mariano TM, Cook JR, Wang N, Emanuel S, Schwartz B, Miki T, Pestka S. Soh J, et al. Among authors: donnelly rj. Cell. 1994 Mar 11;76(5):793-802. doi: 10.1016/0092-8674(94)90354-9. Cell. 1994. PMID: 8124716

10

Generation of random internal deletion derivatives of YACs by homologous targeting to Alu sequences.

Soh J, Mariano TM, Bradshaw G, Donnelly RJ, Pestka S. Soh J, et al. Among authors: donnelly rj. DNA Cell Biol. 1994 Mar;13(3):301-9. doi: 10.1089/dna.1994.13.301. DNA Cell Biol. 1994. PMID: 8172658

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