Detalhe da pesquisa
1.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
J Med Genet
; 60(1): 65-73, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872991
2.
Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
J Am Soc Nephrol
; 34(11): 1875-1888, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37678265
3.
Kearns-Sayre syndrome with a novel large-scale deletion: a case report.
BMC Ophthalmol
; 22(1): 35, 2022 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35073857
4.
Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.
Neurosciences (Riyadh)
; 27(2): 111-115, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477912
5.
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.
J Cell Physiol
; 236(8): 5664-5675, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432587
6.
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
J Med Genet
; 57(9): 643-646, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161153
7.
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Am J Med Genet A
; 182(2): 365-373, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31825167
8.
CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report.
Am J Kidney Dis
; 73(2): 273-277, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30309714
9.
Genetic and biochemical intricacy shapes mitochondrial cytopathies.
Neurobiol Dis
; 92(Pt A): 55-63, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25684538
10.
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
J Inherit Metab Dis
; 38(3): 445-57, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352051
11.
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Pediatr Diabetes
; 16(1): 1-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25330715
12.
Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy.
J Cardiovasc Magn Reson
; 17: 40, 2015 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001801
13.
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome.
Nucleic Acids Res
; 41(1): 418-33, 2013 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23087375
14.
Selected case from the Arkadi M. Rywlin International Pathology Slide Series: Mitochondrial myopathy presenting with chronic progressive external ophthalmoplegia (CPEO): a case report.
Adv Anat Pathol
; 21(6): 461-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25299315
15.
Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations.
Biochem J
; 453(3): 455-65, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23631826
16.
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.
Mol Genet Genomic Med
; 12(1): e2328, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38018320
17.
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement.
Mol Cell Proteomics
; 10(4): M110.002964, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21156839
18.
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
BMC Pediatr
; 13: 27, 2013 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23421922
19.
A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies.
Nat Genet
; 4(1): 67-71, 1993 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8513327
20.
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Nat Genet
; 1(5): 359-67, 1992 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-1284549