Detalhe da pesquisa
1.
Local retinoic acid signaling directs emergence of the extraocular muscle functional unit.
PLoS Biol
; 18(11): e3000902, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33201874
2.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148383
3.
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.
J Sleep Res
; 30(2): e13051, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32524698
4.
Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells.
Int J Mol Sci
; 22(14)2021 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298889
5.
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
J Inherit Metab Dis
; 43(4): 694-700, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32216104
6.
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
BMC Pediatr
; 20(1): 41, 2020 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996177
7.
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Pediatr Blood Cancer
; 66(4): e27591, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30588737
8.
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.
Prague Med Rep
; 120(4): 124-130, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31935347
9.
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.
Neurol Neurochir Pol
; 53(5): 369-376, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577365
10.
Revisiting mitochondrial diagnostic criteria in the new era of genomics.
Genet Med
; 20(4): 444-451, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261183
11.
Periodic fevers and other autoinflammatory diseases.
Cas Lek Cesk
; 157(3): 122-129, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30441946
12.
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Cardiol Young
; 27(5): 936-944, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839525
13.
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.
Prague Med Rep
; 118(2-3): 87-94, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28922105
14.
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Brain
; 138(Pt 2): 336-55, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25567323
15.
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.
Eur J Pediatr
; 175(9): 1199-1207, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27539621
16.
TMEM70 deficiency: long-term outcome of 48 patients.
J Inherit Metab Dis
; 38(3): 417-26, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326274
17.
Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders.
Pediatr Blood Cancer
; 66(12): e28007, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31535449
18.
Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.
Neuro Endocrinol Lett
; 35(2): 137-41, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24878975
19.
[Psychiatric disturbances in five patients with MELAS syndrome]. / Zaburzenia psychiczne u pieciu pacjentów cierpiacych na zespól MELAS.
Psychiatr Pol
; 48(5): 1035-45, 2014.
Artigo
em Polonês
| MEDLINE | ID: mdl-25639022
20.
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.
Mol Genet Metab
; 108(1): 102-5, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23206802