Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

Autor: Rémi Bos, Khalil Rihan, Patrice Quintana, Lara El-Bazzal, Nathalie Bernard-Marissal, Nathalie Da Silva, Rosette Jabbour, André Mégarbané, Marc Bartoli, Frédéric Brocard, Valérie Delague

Publikováno v: Neurobiology of Disease, Vol 164, Iss , Pp 105609- (2022)

We recently described new pathogenic variants in VRK1, in patients affected with distal Hereditary Motor Neuropathy associated with upper motor neurons signs. Specifically, we provided evidences that hiPSC-derived Motor Neurons (hiPSC-MN) from these

Externí odkaz: https://doaj.org/article/e0889f703ae042e3a01c7a9e37be8b23

FANCA Gene Mutations in North African Fanconi Anemia Patients

Autor: Abir Ben Haj Ali, Olfa Messaoud, Sahar Elouej, Faten Talmoudi, Wiem Ayed, Fethi Mellouli, Monia Ouederni, Sondes Hadiji, Annachiara De Sandre-Giovannoli, Valérie Delague, Nicolas Lévy, Massimo Bogliolo, Jordi Surrallés, Sonia Abdelhak, Ahlem Amouri

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than expected and could be a major cause for the high prevalence of recessive genetic disorders like

Externí odkaz: https://doaj.org/article/bb022a4210ca418a9084d7233c286fe8

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

Autor: Lara, El-Bazzal, Adeline, Ghata, Clothilde, Estève, Jihane, Gadacha, Patrice, Quintana, Christel, Castro, Nathalie, Roeckel-Trévisiol, Frédérique, Lembo, Nicolas, Lenfant, André, Mégarbané, Jean-Paul, Borg, Nicolas, Lévy, Marc, Bartoli, Yannick, Poitelon, Pierre L, Roubertoux, Valérie, Delague, Nathalie, Bernard-Marissal

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, ⟨10.1093/brain/awac402⟩

International audience; Charcot Marie Tooth disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells of the peripheral nervous system, and caused by more than 10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0782ce2aa538c788166fadb0e6d00695
https://amu.hal.science/hal-03977684

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

Autor: Christel Dagher, Audrey Criqui, Nathalie Roeckel-Trevisiol, Christel Castro, Daniel Mahfoud, Hala Mégarbané, Sylvain Baulande, André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Mahmoud Taleb Al-Ali, Jean-Pierre Desvignes, Valérie Delague

Publikováno v: Molecular Syndromology
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩

We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd26fd4373b9c4259fcbc827655ef5b
https://hal-amu.archives-ouvertes.fr/hal-03662760

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Autor: Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

Publikováno v: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩

Background: Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce. Objective: This study aims to provide a retrospective overview of hereditary NMDs based on our cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ef5fc9d8231e08324d8b33ef984239
https://pubmed.ncbi.nlm.nih.gov/34602496