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authFullName_s : Imen Dorboz
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A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

Adnane Karkar , Abdelhamid Barakat , Amina Bakhchane , Houda Fettah , Ilham Slassi , et al.
BMC Neurology, 2015, 15 (1), pp.244. ⟨10.1186/s12883-015-0503-1⟩
Journal articles inserm-01264481v1

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

Imen Dorboz , Eléonore Eymard-Pierre , Rym Kefi , Sonia Abdelhak , Najoua Miladi , et al.
Journal of the Neurological Sciences, 2009, 287 (1-2), pp.278-280. ⟨10.1016/j.jns.2009.07.023⟩
Journal articles istex pasteur-01375329v1
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Zied Riahi , Crystel Bonnet , Rim Zainine , Malek Louha , Yosra Bouyacoub , et al.
PLoS ONE, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩
Journal articles pasteur-01060192v1
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Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

Imen Dorboz , Hélène Dumay-Odelot , Karima Boussaid , Yosra Bouyacoub , Pauline Barreau , et al.
Neurology Genetics, 2018, 4 (6), pp.e289. ⟨10.1212/nxg.0000000000000289⟩
Journal articles pasteur-02000258v1

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

Nizar Ben Halim , Imen Dorboz , Rym Kefi , Najla Kharrat , Eléonore Eymard-Pierre , et al.
Neurological Sciences, 2016, 37 (3), pp.403-409. ⟨10.1007/s10072-015-2417-5⟩
Journal articles pasteur-01374976v1