Engelstad K - Search Results

1

A mouse model for Glut-1 haploinsufficiency.

Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, Yoo J, Noebels JL, De Vivo DC. Wang D, et al. Among authors: engelstad k. Hum Mol Genet. 2006 Apr 1;15(7):1169-79. doi: 10.1093/hmg/ddl032. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497725

2

Imaging the metabolic footprint of Glut1 deficiency on the brain.

Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. Pascual JM, et al. Among authors: engelstad k. Ann Neurol. 2002 Oct;52(4):458-64. doi: 10.1002/ana.10311. Ann Neurol. 2002. PMID: 12325075

3

Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC. Leary LD, et al. Among authors: engelstad k. Epilepsia. 2003 May;44(5):701-7. doi: 10.1046/j.1528-1157.2003.05302.x. Epilepsia. 2003. PMID: 12752470 Free article.

4

Mitochondrial DNA abnormalities and autistic spectrum disorders.

Pons R, Andreu AL, Checcarelli N, Vilà MR, Engelstad K, Sue CM, Shungu D, Haggerty R, de Vivo DC, DiMauro S. Pons R, et al. Among authors: engelstad k. J Pediatr. 2004 Jan;144(1):81-5. doi: 10.1016/j.jpeds.2003.10.023. J Pediatr. 2004. PMID: 14722523

5

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo DC. Shanske S, et al. Among authors: engelstad k. Am J Med Genet A. 2004 Oct 1;130A(2):134-7. doi: 10.1002/ajmg.a.30220. Am J Med Genet A. 2004. PMID: 15372523

6

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC. Wang D, et al. Among authors: engelstad k. Ann Neurol. 2005 Jan;57(1):111-8. doi: 10.1002/ana.20331. Ann Neurol. 2005. PMID: 15622525 Clinical Trial.

7

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".

Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA. Naini A, et al. Among authors: engelstad k. J Neurol Sci. 2005 Mar 15;229-230:187-93. doi: 10.1016/j.jns.2004.11.026. Epub 2004 Dec 15. J Neurol Sci. 2005. PMID: 15760638 Clinical Trial.

8

Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.

Kaufmann P, Pascual JM, Anziska Y, Gooch CL, Engelstad K, Jhung S, DiMauro S, De Vivo DC. Kaufmann P, et al. Among authors: engelstad k. Arch Neurol. 2006 May;63(5):746-8. doi: 10.1001/archneur.63.5.746. Arch Neurol. 2006. PMID: 16682545

9

Brain glucose supply and the syndrome of infantile neuroglycopenia.

Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL, De Vivo DC. Pascual JM, et al. Among authors: engelstad k. Arch Neurol. 2007 Apr;64(4):507-13. doi: 10.1001/archneur.64.4.noc60165. Epub 2007 Feb 12. Arch Neurol. 2007. PMID: 17296829

10

Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.

Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC. Wang D, et al. Among authors: engelstad k. Pediatr Res. 2008 Nov;64(5):538-43. doi: 10.1203/PDR.0b013e318184d2b5. Pediatr Res. 2008. PMID: 18614966

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