Detalhe da pesquisa
1.
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Brain;
146(5): 1804-1811, 2023 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36349561
2.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
Hum Mol Genet;
28(9): 1445-1462, 2019 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30566640
3.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Am J Hum Genet;
102(2): 266-277, 2018 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29395073
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.
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
Mol Genet Metab;
134(3): 267-273, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34620555
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.
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
9.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Am J Hum Genet;
98(5): 993-1000, 2016 May 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27132592
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.
Mouse models for mitochondrial diseases.
Hum Mol Genet;
25(R2): R115-R122, 2016 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27329762
13.
Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.
Hum Mol Genet;
24(25): 7286-94, 2015 Dec 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26464487
14.
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
15.
Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
Hum Mol Genet;
23(21): 5733-49, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24916378
16.
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.
EMBO J;
31(2): 443-56, 2012 Jan 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22045337
17.
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
18.
MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.
PLoS Genet;
9(1): e1003178, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23300484
19.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Am J Hum Genet;
99(1): 246, 2016 07 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27392079
20.
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