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    Article

    Association Between Alzheimer Disease and the −491T Allele of Regulatory Region Polymorphism of Apolipoprotein E in a Tunisian Population

    The apolipoprotein E (APOE) is a well-established risk factor for late-onset Alzheimer’s disease (AD). Several studies have attempted to confirm the association between the polymorphism located at position −491 ...

    Afef Achouri-Rassas, Sondes Hadj Fredj, Hela Mrabet Khiari in Neurochemical Research (2014)

  2. Article

    Open Access

    A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family

    Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. The aim of our study was to identify the responsible locus for GEFS+ syndrome in a cons...

    Nejla Belhedi, Frédérique Bena, Amel Mrabet, Michel Guipponi in BMC Genetics (2013)

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    Article

    No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a Tunisian population

    We examined the potential involvement of the polymorphism in intron 8 of the presenilin-1 (PSEN1) gene as a risk factor for Alzheimer disease (AD), both through independent effect and interaction with the apolipo...

    Afef Achouri Rassas, Sondess Hadj Fredj in Journal of Neural Transmission (2013)

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    Article

    Association of amyotrophic lateral sclerosis and Behcet’s disease: is there a relationship? A multi-national case series

    Neurological involvement may be seen in 5–30% of the patients with Behcet’s disease (BD). Occasionally, parenchymal neurological involvement in BD can present as a spinal cord syndrome. However, motor neuron d...

    Hela Mrabet, Afshin Borhani-Haghighi, Emel Koseoglu, Melike Mutlu in Clinical Rheumatology (2012)

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    Article

    High APOE epsilon 4 allele frequencies associated with Alzheimer disease in a Tunisian population

    The goal of the study was to examine the Apolipoprotein E (APOE) genotypes in a Tunisian sample of patients with Alzheimer disease (AD) and normal controls, and to compare the results with the findings from the l...

    Afef Achouri Rassas, Hela Mrabet Khiari, Sondes Hadj Fredj in Neurological Sciences (2012)

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    Article

    Obsessive–compulsive disorder: a new risk factor for Alzheimer disease?

    We describe a case of a 75-year-old woman referred to the Memory Clinic of the neurological Department of Charles Nicolle Hospital, Tunis, for cognitive decline and behavioral disturbances. Her past medical hi...

    Hela Mrabet Khiari, Afef Achouri, Nadia Ben Ali, Aroua Cherif in Neurological Sciences (2011)

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    Article

    Death in Unverricht–Lundborg disease

    The objective of this study is to report cases of unexpected deaths in Unverricht–Lundborg disease (ULD) patients, a comparatively benign form of progressive myoclonus epilepsy. We performed a multicentric stu...

    Hela Mrabet Khiari, Silvana Franceschetti, Nebojsa Jovic in Neurological Sciences (2009)

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    Article

    Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

    Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cyst...

    Bruno Moulard, Pierre Genton, Djamel Grid, Marc Jeanpierre, Réda Ouazzani in Human Genetics (2002)