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1.
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Metab Brain Dis
; 39(4): 611-623, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38363494
2.
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
Metab Brain Dis
; 38(7): 2489-2497, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37642897
3.
Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation.
Mol Biol Rep
; 48(5): 4373-4382, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089464
4.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32319008
5.
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Biochem Biophys Res Commun
; 495(2): 1730-1737, 2018 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29217198
6.
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Biochem Biophys Res Commun
; 497(4): 1043-1048, 2018 03 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-29481804
7.
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Biochem Cell Biol
; 94(3): 265-9, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27248780
8.
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.
Biochem Biophys Res Commun
; 473(1): 61-66, 2016 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-26993169
9.
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
Biochem Biophys Res Commun
; 473(2): 578-85, 2016 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-27033601
10.
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.
Biochem Biophys Res Commun
; 474(4): 702-708, 2016 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27155156
11.
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
Int J Dev Neurosci
; 82(8): 736-747, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35943861
12.
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
Int J Dev Neurosci
; 82(7): 626-638, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-35841120
13.
The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
Mol Genet Genomic Med
; 8(7): e1292, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32394641
14.
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Clin Chim Acta
; 488: 104-110, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30395865
15.
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
Horm Res Paediatr
; 86(2): 90-93, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27414811
16.
Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
Horm Res Paediatr
; 85(1): 18-21, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26595337
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