Pascual JM - Search Results

1

GLUT1 deficiency and other glucose transporter diseases.

Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. Pascual JM, et al. Eur J Endocrinol. 2004 May;150(5):627-33. doi: 10.1530/eje.0.1500627. Eur J Endocrinol. 2004. PMID: 15132717 Review.

2

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC. Brockmann K, et al. Among authors: pascual jm. Ann Neurol. 2001 Oct;50(4):476-85. doi: 10.1002/ana.1222. Ann Neurol. 2001. PMID: 11603379

3

Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer.

Iserovich P, Wang D, Ma L, Yang H, Zuniga FA, Pascual JM, Kuang K, De Vivo DC, Fischbarg J. Iserovich P, et al. Among authors: pascual jm. J Biol Chem. 2002 Aug 23;277(34):30991-7. doi: 10.1074/jbc.M202763200. Epub 2002 May 24. J Biol Chem. 2002. PMID: 12032147 Free article.

4

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. Ann Neurol. 2002 Oct;52(4):458-64. doi: 10.1002/ana.10311. Ann Neurol. 2002. PMID: 12325075

5

Glucose transporter protein syndromes.

De Vivo DC, Wang D, Pascual JM, Ho YY. De Vivo DC, et al. Among authors: pascual jm. Int Rev Neurobiol. 2002;51:259-88. doi: 10.1016/s0074-7742(02)51008-4. Int Rev Neurobiol. 2002. PMID: 12420362 Review. No abstract available.

6

Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.

Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun RP, Swaroop KM, Fischbarg J, De Vivo DC. Wang D, et al. Among authors: pascual jm. J Biol Chem. 2003 Dec 5;278(49):49015-21. doi: 10.1074/jbc.M308765200. Epub 2003 Sep 16. J Biol Chem. 2003. PMID: 13129919 Free article.

7

[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome].

Pascual JM, Lecumberri B, Wang D, Yang R, Engelstad K, De Vivo DC. Pascual JM, et al. Rev Neurol. 2004 May 1-15;38(9):860-4. Rev Neurol. 2004. PMID: 15152356 Free article. Review. Spanish.

8

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: pascual jm. Ann Neurol. 2005 Jan;57(1):111-8. doi: 10.1002/ana.20331. Ann Neurol. 2005. PMID: 15622525 Clinical Trial.

9

[Progresses in studies on the glucose transporter deficiency syndrome].

Wang D, Sun RP, Wang X, Yang R, Yang H, Pascual JM, De Vivo DC. Wang D, et al. Among authors: pascual jm. Zhonghua Er Ke Za Zhi. 2004 Oct;42(10):756-8. Zhonghua Er Ke Za Zhi. 2004. PMID: 16221345 Chinese. No abstract available.

10

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.

Kaufmann P, Engelstad K, Wei Y, Jhung S, Sano MC, Shungu DC, Millar WS, Hong X, Gooch CL, Mao X, Pascual JM, Hirano M, Stacpoole PW, DiMauro S, De Vivo DC. Kaufmann P, et al. Among authors: pascual jm. Neurology. 2006 Feb 14;66(3):324-30. doi: 10.1212/01.wnl.0000196641.05913.27. Neurology. 2006. PMID: 16476929 Clinical Trial.

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