Výsledky vyhledávání - "Valérie Delague"

Akademický článek

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

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Akademický článek

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Publikováno v: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-7 (2019)

Abstract Background The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made the genetic informat

Externí odkaz: https://doaj.org/article/05a422e6778046b28f3efa5646c21d80

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Akademický článek

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

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Akademický článek

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

Autor: Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané

Publikováno v: PLoS Genetics, Vol 10, Iss 5, p e1004311 (2014)

Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex process. Here, we report a homozygous mutation in the mit

Externí odkaz: https://doaj.org/article/1e1164b459de47aea3caa8feba51e9b7

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Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

Autor: Cybel Mehawej, Eliane Chouery, Ghada Al Hage Chehade, Yosra Bejaoui, Daniel Mahfoud, Maya Gerges, Valérie Delague, Nady El Hajj, Andre Megarbane

Publikováno v: Molecular Syndromology. :1-6

Introduction: Overgrowth syndromes are a heterogeneous group of genetic disorders characterized by excessive growth, often accompanied by additional clinical features, such as facial dysmorphism, hormonal imbalances, cognitive impairment, and increas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4ebf8e6fea0b1d5da4027a335b05e1fd
https://doi.org/10.1159/000527215

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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

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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

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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

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