Browsing by Author Mégarbané, André

Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)
2022Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1Bos, Rémi; Rihan, Khalil; Quintana, Patrice; El-Bazzal, Lara; Bernard-Marissal, Nathalie; Da Silva, Nathalie; Jabbour, Rosette; Mégarbané, André; Bartoli, Marc; Brocard, Frédéric; Delague, Valérie
2021Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle EastAlghamdi, Fouad; Al-Tawari, Asmaa; Alrohaif, Hadil; Alshuaibi, Walaa; Mansour, Hicham; Aartsma-Rus, Annemieke; Mégarbané, André
2021Clinical and Molecular Update on the Fourth Reported Family with Hamamy SyndromeMégarbané, André; Hana, Sayeeda; Mégarbané, Hala; Castro, Christel; Baulande, Sylvain; Criqui, Audrey; Roëckel-Trevisiol, Nathalie; Dagher, Christel; Al-Ali, Mahmoud Taleb; Desvignes, Jean-Pierre; Mahfoud, Daniel; El-Hayek, Stephany; Delague, Valérie
2019Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1El-Bazzal, Lara; Rihan, Khalil; Bernard-Marissal, Nathalie; Castro, Christel; Chouery-Khoury, Eliane; Desvignes, Jean-Pierre; Atkinson, Alexandre; Bertaux, Karine; Koussa, Salam; Lévy, Nicolas; Bartoli, Marc; Mégarbané, André; Jabbour, Rosette; Delague, Valérie
2019A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)Mégarbané, André; Hmaimess, Ghassan; Bizzari, Sami; El-Bazzal, Lara; Al-Ali, Mahmoud Taleb; Stora, Samantha; Delague, Valerie; El-Hayek, Stephany