Detalhe da pesquisa
1.
Metabolic Determinants of Cerebellar Circuit Formation and Maintenance.
Cerebellum
; 2023 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38123901
2.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Am J Hum Genet
; 101(3): 441-450, 2017 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28823706
3.
Synaptic energy metabolism and neuronal excitability, in sickness and health.
J Inherit Metab Dis
; 42(2): 220-236, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30734319
4.
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
J Med Genet
; 55(1): 48-54, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28626029
5.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
J Med Genet
; 54(6): 399-403, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28280135
6.
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Ann Neurol
; 80(1): 59-70, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27130255
7.
Decreased carbon shunting from glucose toward oxidative metabolism in diet-induced ketotic rat brain.
J Neurochem
; 132(3): 301-12, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25314677
8.
The ratio of acetate-to-glucose oxidation in astrocytes from a single 13C NMR spectrum of cerebral cortex.
J Neurochem
; 132(1): 99-109, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25231025
9.
Pathogenetic mechanisms of focal cortical dysplasia.
Epilepsia
; 55(7): 970-8, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24861491
10.
Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype.
Neurobiol Dis
; 48(1): 92-101, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22683290
11.
Metabolism of [U-13 C]glucose in human brain tumors in vivo.
NMR Biomed
; 25(11): 1234-44, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22419606
12.
Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors.
NMR Biomed
; 25(10): 1177-86, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22383401
13.
Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency.
Sci Transl Med
; 14(665): eabn2956, 2022 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36197967
14.
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Mol Genet Metab
; 101(1): 9-17, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20598931
15.
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.
Sci Transl Med
; 11(480)2019 02 20.
Artigo
Inglês
| MEDLINE | ID: mdl-30787166
16.
Measurement of 13 C turnover into glutamate and glutamine pools in brain tumor patients.
FEBS Lett
; 591(21): 3548-3554, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28963851
17.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nat Genet
; 49(3): 457-464, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-28092684
18.
Thiamine deficiency secondary to anorexia nervosa: an uncommon cause of peripheral neuropathy and Wernicke encephalopathy in adolescence.
Pediatr Neurol
; 51(1): 100-3, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24938142
19.
Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement.
JAMA Neurol
; 71(10): 1255-65, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25110966
20.
Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain.
J Cereb Blood Flow Metab
; 33(2): 175-82, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23072752