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Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that almost exclusively affects females and is generally considered lethal in males during gestation. The typical form is characterised,Expand
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Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.
Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure toExpand
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A De Novo Mutation in the Adenosine Triphosphatase (ATPase) 8 Gene in a Patient With Mitochondrial Disorder
Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the currentExpand
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Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
Mitochondrial diseases are a heterogeneous group of disorders caused by the impairment of the mitochondrial oxidative phosphorylation system which have been associated with various mutations of theExpand
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[Viral hepatitis C in chronic hemodialyzed patients in southern Tunisia. Prevalence and risk factors].
To define, the prevalence and risk factors of hepatitis C virus (HCV) a prospective and multicentre study was performed in 235 patients undergoing haemodialysis, the anti-HCV antibodies wereExpand
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New mutation c.374C>T and a putative disease‐associated haplotype within SCN1B gene in Tunisian families with febrile seizures
Background:  Febrile seizures (FSs) relatively represent the most common form of childhood seizures. FSs are not thought of as a true epileptic disease but rather as a special syndrome characterizedExpand
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Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus
Background and purpose:  Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim ofExpand
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Molecular-Clinical Correlation in a Family With a Novel Heteroplasmic Leigh Syndrome Missense Mutation in the Mitochondrial Cytochrome c Oxidase III Gene
Cytochrome c oxidase is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. In this study, the authors report theExpand
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Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero
Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patientsExpand
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Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease (PMLD) are hypomyelinating leucodystrophies of the central nervous system (CNS) with a very similar phenotype. PMD is an X-linkedExpand
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