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Items: 1 to 20 of 98

1.

Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.

Ortez C, Jou C, Cortès-Saladelafont E, Moreno J, Pérez A, Ormazábal A, Pérez-Cerdá C, Pérez B, Artuch R, Cusi V, García-Cazorla A.

Gene. 2013 Dec 15;532(2):302-6. doi: 10.1016/j.gene.2013.08.036.

PMID:
23973720
2.

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM.

Ann Neurol. 2006 Jan;59(1):121-7.

PMID:
16278852
3.

Subthalamic GAD gene transfer in Parkinson disease patients who are candidates for deep brain stimulation.

During MJ, Kaplitt MG, Stern MB, Eidelberg D.

Hum Gene Ther. 2001 Aug 10;12(12):1589-91.

PMID:
11529246
4.
5.

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.

Pediatr Neurol. 1989 Jul-Aug;5(4):249-52.

PMID:
2553027
6.

Disorders of pyruvate metabolism.

De Meirleir L.

Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Review.

PMID:
23622387
7.

Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.

Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M.

Am J Med Genet. 1999 May 21;84(2):94-101.

PMID:
10323732
8.

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N.

Mol Genet Metab. 2006 Feb;87(2):175-7.

PMID:
16325442
9.

Brain amino acid abnormalities in pyruvate carboxylase deficiency.

Perry TL, Haworth JC, Robinson BH.

J Inherit Metab Dis. 1985;8(2):63-6.

PMID:
2878111
10.
11.

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Van Coster RN, Janssens S, Misson JP, Verloes A, Leroy JG.

Prenat Diagn. 1998 Oct;18(10):1041-4.

PMID:
9826895
12.

MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.

Higgins JJ, Glasgow AM, Lusk M, Kerr DS.

J Child Neurol. 1994 Oct;9(4):436-9.

PMID:
7822739
14.

Metabolic changes detected by proton magnetic resonance spectroscopy in vivo and in vitro in a murin model of Parkinson's disease, the MPTP-intoxicated mouse.

Chassain C, Bielicki G, Durand E, Lolignier S, Essafi F, Traoré A, Durif F.

J Neurochem. 2008 May;105(3):874-82.

15.

Colocalization of tyrosine hydroxylase and GAD65 mRNA in mesostriatal neurons.

González-Hernández T, Barroso-Chinea P, Acevedo A, Salido E, Rodríguez M.

Eur J Neurosci. 2001 Jan;13(1):57-67.

PMID:
11135004
16.
17.

Deep brain stimulation of subthalamic neurons increases striatal dopamine metabolism and induces contralateral circling in freely moving 6-hydroxydopamine-lesioned rats.

Meissner W, Harnack D, Paul G, Reum T, Sohr R, Morgenstern R, Kupsch A.

Neurosci Lett. 2002 Aug 9;328(2):105-8.

PMID:
12133566
19.

Subthalamic GAD gene therapy in a Parkinson's disease rat model.

Luo J, Kaplitt MG, Fitzsimons HL, Zuzga DS, Liu Y, Oshinsky ML, During MJ.

Science. 2002 Oct 11;298(5592):425-9.

20.

Compartmental organization and chemical profile of dopaminergic and GABAergic neurons in the substantia nigra of the rat.

González-Hernández T, Rodríguez M.

J Comp Neurol. 2000 May 22;421(1):107-35.

PMID:
10813775
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