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

Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H

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

Charcot Marie Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells (SC) of the peripheral nervous system, and caused by more than 100 genes. We p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ae2ceba231f1bef36fd0e836ae68bc8
https://doi.org/10.1101/2022.01.20.477077

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

Autor: Stephany El-Hayek, Sami Bizzari, Valérie Delague, Lara El-Bazzal, Pratibha Nair, Antoine Younan, Cybel Mehawej, Samantha Stora, André Mégarbané

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩
European Journal of Medical Genetics, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩

International audience; We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular faces, prominent forehead, telecanthus, ptosis, everted lower eyelids, downslanting pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a6a933a6508a85fd045ffcacbf9ed76
https://hal-amu.archives-ouvertes.fr/hal-02550686

Loss of Cajal Bodies in Motor Neurons from patients with novel mutations in VRK1

Autor: Marc Bartoli, Salam Koussa, Nathalie Bernard-Marissal, Rosette Jabbour, Khalil Rihan, Christel Castro, André Mégarbané, Valérie Delague, Nicolas Lévy, Lara El-Bazzal, Alexandre Atkinson, Jean-Pierre Desvignes, Eliane Chouery-Khoury, Karine Bertaux

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2019, ⟨10.1093/hmg/ddz060⟩

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot–Marie–Tooth syndromes, but characterized by an exclusive involvement of the motor part of the peripheral nervous system. Here, we describe two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379ad8ce8f9b1eb0c81979c36fc1c62a
https://hal-amu.archives-ouvertes.fr/hal-02152040/document

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

Autor: Lara El-Bazzal, Valérie Delague, Mahmoud Taleb Al-Ali, Stephany El-Hayek, Samantha Stora, Ghassan Hmaimess, Sami Bizzari, André Mégarbané

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103576. ⟨10.1016/j.ejmg.2018.11.010⟩

Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth sign" (MTS), which can be isolated or in conjunct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0c610cf0c86e65c2f279ee5b1be593
https://doi.org/10.1016/j.ejmg.2018.11.010