Kerr DS - Search Results

1

Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.

Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML. Neilson DE, et al. Among authors: kerr ds. Ann Neurol. 2004 Feb;55(2):291-4. doi: 10.1002/ana.10849. Ann Neurol. 2004. PMID: 14755735

2

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Neilson DE, et al. Among authors: kerr ds. Am J Hum Genet. 2009 Jan;84(1):44-51. doi: 10.1016/j.ajhg.2008.12.009. Am J Hum Genet. 2009. PMID: 19118815 Free PMC article.

3

Autosomal dominant acute necrotizing encephalopathy.

Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Varnes ME, Bangert BA, Wiznitzer M, Warman ML, Kerr DS. Neilson DE, et al. Among authors: kerr ds. Neurology. 2003 Jul 22;61(2):226-30. doi: 10.1212/01.wnl.0000073544.28775.1a. Neurology. 2003. PMID: 12874403

4

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.

Okajima K, Warman ML, Byrne LC, Kerr DS. Okajima K, et al. Among authors: kerr ds. Mol Genet Metab. 2006 Feb;87(2):162-8. doi: 10.1016/j.ymgme.2005.09.023. Epub 2006 Jan 18. Mol Genet Metab. 2006. PMID: 16412675

5

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

Wexler ID, Hemalatha SG, McConnell J, Buist NR, Dahl HH, Berry SA, Cederbaum SD, Patel MS, Kerr DS. Wexler ID, et al. Among authors: kerr ds. Neurology. 1997 Dec;49(6):1655-61. doi: 10.1212/wnl.49.6.1655. Neurology. 1997. PMID: 9409363

6

Genetic defects in human pyruvate dehydrogenase.

Ho L, Wexler ID, Kerr DS, Patel MS. Ho L, et al. Among authors: kerr ds. Ann N Y Acad Sci. 1989;573:347-59. doi: 10.1111/j.1749-6632.1989.tb15010.x. Ann N Y Acad Sci. 1989. PMID: 2517464 Review.

7

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS. Hemalatha SG, et al. Among authors: kerr ds. Hum Mol Genet. 1995 Feb;4(2):315-8. doi: 10.1093/hmg/4.2.315. Hum Mol Genet. 1995. PMID: 7757088 No abstract available.

8

Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms.

Rutledge SL, Snead OC 3rd, Kelly DR, Kerr DS, Swann JW, Spink DL, Martin DL. Rutledge SL, et al. Among authors: kerr ds. Pediatr Neurol. 1989 Jul-Aug;5(4):249-52. doi: 10.1016/0887-8994(89)90085-4. Pediatr Neurol. 1989. PMID: 2553027

9

Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria--case studies.

Puchowicz MA, Varnes ME, Cohen BH, Friedman NR, Kerr DS, Hoppel CL. Puchowicz MA, et al. Among authors: kerr ds. Mitochondrion. 2004 Sep;4(5-6):377-85. doi: 10.1016/j.mito.2004.07.004. Mitochondrion. 2004. PMID: 16120399

10

Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.

Griffin TA, Hostoffer RW, Tserng KY, Lebovitz DJ, Hoppel CL, Mosser JL, Kaplan D, Kerr DS. Griffin TA, et al. Among authors: kerr ds. Acta Paediatr. 1996 Jul;85(7):875-8. doi: 10.1111/j.1651-2227.1996.tb14172.x. Acta Paediatr. 1996. PMID: 8819559

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