Author
Lebanese American UniversityORCID 0000-0003-0714-2469Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Justin Simo, Alexandre Janer, Hana Antonická…·Roberta La Piana
This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.
Jihane Gadacha, Zahraa Haidar, Nathalie Roëckel…·Valérie Delague
This paper identifies bi-allelic mutations in KCTD11 as a cause of autosomal recessive intermediate Charcot-Marie-Tooth disease and elucidates its role in myelin homeostasis through molecular mechanisms.
Zeinab Hamzé, Camille Humbert, Khalil Rihan…·Valérie Delague
The paper investigates VRK1-related motor neuropathies using hiPSC-MNs and bulk mRNA-Seq, identifying altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation as key pathomechanisms.
Yosra Bejaoui, Fathima Humaira Amanullah, Mohamad Saad…·Nady El Hajj
This study examines epigenetic age acceleration and telomere attrition in severe COVID-19 patients with ARDS, finding higher epigenetic age acceleration in deceased patients compared to recovered ones.
Lara El-Bazzal, Adeline Spiga Ghata, Clothilde Estève…·Nathalie Bernard‐Marissal
This study identifies FGD4/FRABIN's role in regulating NRG1/ErbB2/3 signaling and myelination in CMT4H, showing that restoring this pathway with niacin reduces myelin outfoldings.
Rémi Bos, Khalil Rihan, Patrice Quintana…·Valérie Delague
The paper investigates hiPSC-derived motor neurons with VRK1 mutations, finding altered action potential waveforms and shorter axonal initial segments, suggesting a link to motor neuron disease.