Detalhe da pesquisa
1.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum Mutat
; 42(6): 699-710, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715266
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 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
4.
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Genet Med
; 23(4): 720-731, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303968
5.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Haematologica
; 106(4): 1220-1225, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33327715
6.
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Hum Mutat
; 41(2): 397-402, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680380
7.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
8.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462754
9.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Am J Hum Genet
; 99(1): 208-16, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374773
10.
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.
J Med Genet
; 55(6): 378-383, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358270
11.
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Hum Mutat
; 39(12): 2047-2059, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30252186
12.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Am J Hum Genet
; 95(6): 708-20, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434004
13.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625026
14.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Hepatology
; 70(3): 1066-1070, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30912852
15.
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Life (Basel)
; 13(2)2023 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36836802
16.
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Mol Genet Metab
; 107(4): 700-4, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23141463
17.
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Hum Mutat
; 32(11): 1225-31, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21786366
18.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Eur J Hum Genet
; 29(3): 533-538, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33168986
19.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
J Clin Invest
; 131(6)2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465056
20.
Improving post-natal detection of mitochondrial DNA mutations.
Expert Rev Mol Diagn
; 20(10): 1003-1008, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902337