Buchner DA - Search Results

1

The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking.

Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ, Waxman SG, Dib-Hajj SD, Meisler MH. Sharkey LM, et al. Among authors: buchner da. J Neurosci. 2009 Mar 4;29(9):2733-41. doi: 10.1523/JNEUROSCI.6026-08.2009. J Neurosci. 2009. PMID: 19261867 Free PMC article.

2

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

Kearney JA, Buchner DA, De Haan G, Adamska M, Levin SI, Furay AR, Albin RL, Jones JM, Montal M, Stevens MJ, Sprunger LK, Meisler MH. Kearney JA, et al. Among authors: buchner da. Hum Mol Genet. 2002 Oct 15;11(22):2765-75. doi: 10.1093/hmg/11.22.2765. Hum Mol Genet. 2002. PMID: 12374766

3

Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13.

Buchner DA, Seburn KL, Frankel WN, Meisler MH. Buchner DA, et al. Mamm Genome. 2004 May;15(5):344-51. doi: 10.1007/s00335-004-2332-1. Mamm Genome. 2004. PMID: 15170223 Free article.

4

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions.

Meisler MH, Plummer NW, Burgess DL, Buchner DA, Sprunger LK. Meisler MH, et al. Among authors: buchner da. Genetica. 2004 Sep;122(1):37-45. doi: 10.1007/s10709-004-1441-9. Genetica. 2004. PMID: 15619959 Free article. Review.

5

Mutations of voltage-gated sodium channels in movement disorders and epilepsy.

Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A. Meisler MH, et al. Among authors: buchner da. Novartis Found Symp. 2002;241:72-81; discussion 82-6, 226-32. Novartis Found Symp. 2002. PMID: 11771652 Review.

6

TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.

Buchner DA, Meisler MH. Buchner DA, et al. Gene. 2003 Mar 27;307:23-30. doi: 10.1016/s0378-1119(03)00423-2. Gene. 2003. PMID: 12706885

7

SCNM1, a putative RNA splicing factor that modifies disease severity in mice.

Buchner DA, Trudeau M, Meisler MH. Buchner DA, et al. Science. 2003 Aug 15;301(5635):967-9. doi: 10.1126/science.1086187. Science. 2003. PMID: 12920299

8

High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot.

Buchner DA, Trudeau M, George AL Jr, Sprunger LK, Meisler MH. Buchner DA, et al. Genomics. 2003 Oct;82(4):452-9. doi: 10.1016/s0888-7543(03)00152-6. Genomics. 2003. PMID: 13679025

9

The juxtaparanodal proteins CNTNAP2 and TAG1 regulate diet-induced obesity.

Buchner DA, Geisinger JM, Glazebrook PA, Morgan MG, Spiezio SH, Kaiyala KJ, Schwartz MW, Sakurai T, Furley AJ, Kunze DL, Croniger CM, Nadeau JH. Buchner DA, et al. Mamm Genome. 2012 Aug;23(7-8):431-42. doi: 10.1007/s00335-012-9400-8. Epub 2012 Jul 1. Mamm Genome. 2012. PMID: 22752552 Free PMC article.

10

Thrombospondin 1 mediates high-fat diet-induced muscle fibrosis and insulin resistance in male mice.

Inoue M, Jiang Y, Barnes RH 2nd, Tokunaga M, Martinez-Santibañez G, Geletka L, Lumeng CN, Buchner DA, Chun TH. Inoue M, et al. Among authors: buchner da. Endocrinology. 2013 Dec;154(12):4548-59. doi: 10.1210/en.2013-1587. Epub 2013 Oct 18. Endocrinology. 2013. PMID: 24140711 Free PMC article.

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