Publications

Selected Publications

Pascual JM, Wang D, Yang R, Shi L, Yang H, De Vivo DC. Abstract Structural Signatures and Membrane Helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. J Biol Chem. 2008 Jun 13;283(24):16732-16742. Epub 2008 Apr 3.

Sproule DM, Kaufmann P, Engelstad K, Starc TJ, Hordof AJ, De Vivo DC. Abstract Wolff-Parkinson-White syndrome in Patients With MELAS. Arch Neurol. 2007 Nov; 64(11):1625-7.

Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL, De Vivo DC. Brain glucose supply and the syndrome of infantile neuroglycopenia.
Arch Neurol. 2007 Apr;64(4):507-13. Epub 2007 Feb 12.

Fujii T, Ho YY, Wang D, De Vivo DC, Miyajima T, Wong HY, Tsang PT, Shirasaka Y, Kudo T, Ito M. Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain Dev. 2007 Mar;29(2):92-7. Epub 2006 Sep 1.

Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet. 2006 Sep;79(3):544-8. Epub 2006 Jun 28.

Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol. 2006 Aug;63(8):1122-6. Review.

Coman DJ, Sinclair KG, Burke CJ, Appleton DB, Pelekanos JT, O’Neil CM, Wallace GB, Bowling FG, Wang D, De Vivo DC, McGill JJ. Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome. J Paediatr Child Health. 2006 May;42(5):263-7.

Kaufmann P, Pascual JM, Anziska Y, Gooch CL, Engelstad K, Jhung S, DiMauro S, De Vivo DC. Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. Arch Neurol. 2006 May;63(5):746-8.

Shepherd RK, Checcarelli N, Naini A, De Vivo DC, DiMauro S, Sue CM. Measurement of ATP production in mitochondrial disorders. J Inherit Metab Dis. 2006 Feb;29(1):86-91.

Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, Yoo J, Noebels JL, De Vivo DC. A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet. 2006 Apr 1;15(7):1169-79. Epub 2006 Feb 23.

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.
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Feb 14;66(3):324-30.

Tay SK, Sacconi S, Akman HO, Morales JF, Morales A, De Vivo DC, Shanske S, Bonilla E, DiMauro S. Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
J Child Neurol. 2005 Aug;20(8):670-4.

Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006 Feb;21(2):241-5.

Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA.
Hypocitrullinemia in patients with MELAS: an insight into the “MELAS paradox”. J Neurol Sci. 2005 Mar 15;229-230:187-93. Epub 2004 Dec 15.

Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005 Jan;57(1):111-8.

Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo DC. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A. 2004 Oct 1;130(2):134-7.

Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC.
GLUT1 deficiency and other glucose transporter diseases.
Eur J Endocrinol. 2004 May;150(5):627-33. Review.


Spanish:

Pascual JM, Lecumberri B, Wang D, Yang R, Engelstad K, De Vivo DC.
Related Articles, Links [Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome] Rev Neurol. 2004 May 1-15;38(9):860-4. Review. Spanish.


Chinese:

Wang D, Sun RP, Wang X, Yang R, Yang H, Pascual JM, De Vivo DC. [Progresses in studies on the glucose transporter deficiency syndrome]
Zhonghua Er Ke Za Zhi. 2004 Oct;42(10):756-8. Chinese. No abstract available.