Detalhe da pesquisa
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37642897
3.
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Metab Brain Dis
; 38(8): 2665-2678, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37656370
4.
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Neurogenetics
; 23(4): 257-270, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819538
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089464
6.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319008
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27155156
8.
Neonatal purulent meningitis in southern Tunisia: Epidemiology, bacteriology, risk factors and prognosis.
Fetal Pediatr Pathol
; 34(4): 233-40, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083897
9.
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
Tunis Med
; 93(8-9): 511-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26815515
10.
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
Fetal Pediatr Pathol
; 33(4): 234-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24840153
11.
[Bacterial meningitis in children: epidemiological data and outcome]. / La méningites purulentes de l'enfant dans le sud Tunisien: aspects épidémiologiques et évolutifs.
Tunis Med
; 92(2): 141-6, 2014 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-24938236
12.
[Cerebral imaging in epileptic children: study of 140 cases]. / Magerie cérébrale de l'épilepsie de lenfant. Etude de 140 observations.
Tunis Med
; 92(1): 24-8, 2014 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-24879166
13.
[Primary immune thrombocytopenia in childhood: a regional study in the south of Tunisia]. / Thrombocytopénie immune primaire de L'Enfant: etude régionale dans le sud Tunisien.
Tunis Med
; 92(3): 219-23, 2014 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-24955969
14.
Nephropathic infantile form of cystinosis about one case.
Fetal Pediatr Pathol
; 31(1): 66-70, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22497686
15.
Arterial ischemic stroke in children: 22 cases from southern Tunisia.
Fetal Pediatr Pathol
; 32(4): 271-5, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23301915
16.
Resistant invasive aspergillosis in an autosomal recessive chronic granulomatous disease.
Fetal Pediatr Pathol
; 32(4): 241-5, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23002911
17.
Miliary tuberculosis mimicking COVID-19 multisystemic inflammatory syndrome in children.
Arch Pediatr
; 30(7): 521-523, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704522
18.
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
J Clin Immunol
; 32(5): 942-58, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22562447
19.
Febrile seizures: an epidemiological and outcome study of 482 cases.
Childs Nerv Syst
; 28(10): 1779-84, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570169
20.
Severe haemophilia B revealed by intracranial hemorrhage in a newborn.
Tunis Med
; 93(5): 330-1, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26578055