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The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1292
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- Article
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
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- Molecular Biology Reports, 2020, v. 47, n. 5, p. 3779, doi. 10.1007/s11033-020-05425-3
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- Article
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.
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- Metabolic Brain Disease, 2024, v. 39, n. 4, p. 611, doi. 10.1007/s11011-024-01343-6
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- Article
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
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- Metabolic Brain Disease, 2023, v. 38, n. 7, p. 2489, doi. 10.1007/s11011-023-01280-w
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- Article
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 2, p. 90, doi. 10.1159/000446539
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- Article
Molecular Analysis of Libyan Families with Allgrove Syndrome: Geographic Expansion of the Ancestral Mutation c.1331+1G>A in North Africa.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 1, p. 18, doi. 10.1159/000441653
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- Article
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.
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- Molecular Biology Reports, 2021, v. 48, n. 5, p. 4373, doi. 10.1007/s11033-021-06452-4
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- Article
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
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- International Journal of Developmental Neuroscience, 2022, v. 82, n. 8, p. 736, doi. 10.1002/jdn.10223
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- Article
A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
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- International Journal of Developmental Neuroscience, 2022, v. 82, n. 7, p. 626, doi. 10.1002/jdn.10215
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- Article
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
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- Biochemistry & Cell Biology, 2016, v. 94, n. 3, p. 265, doi. 10.1139/bcb-2015-0168
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- Article