Detalhe da pesquisa
1.
Mitochondrial translation requires folate-dependent tRNA methylation.
Nature
; 554(7690): 128-132, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364879
2.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429571
3.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245030
4.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Am J Hum Genet
; 102(4): 685-695, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576219
5.
Childhood Stroke: Long-Term Outcomes and Health-Related Quality of Life with a Special Focus on the Development of Epilepsy.
Neuropediatrics
; 52(6): 469-474, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255332
6.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Am J Hum Genet
; 101(4): 525-538, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942965
7.
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Am J Hum Genet
; 99(3): 674-682, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523597
8.
Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.
Neuropediatrics
; 50(2): 71-79, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30572371
9.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
10.
Melanoma tumors exhibit a variable but distinct metabolic signature.
Exp Dermatol
; 27(2): 204-207, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29131438
11.
CAD mutations and uridine-responsive epileptic encephalopathy.
Brain
; 140(2): 279-286, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007989
12.
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Hum Mutat
; 38(12): 1786-1795, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905505
13.
Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat
; 38(12): 1649-1659, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940506
14.
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
Hum Mol Genet
; 24(8): 2247-66, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25552653
15.
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
J Med Genet
; 53(4): 270-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26783368
16.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Am J Hum Genet
; 93(3): 482-95, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993194
17.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
; 39(1): 115-24, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025547
18.
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Am J Hum Genet
; 90(2): 314-20, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284826
19.
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.
J Inherit Metab Dis
; 38(3): 467-75, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687154
20.
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
J Inherit Metab Dis
; 38(3): 391-403, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25526709