Výsledky vyhledávání - "Christel Castro"

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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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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Autor: Alicia Gambarini, Mahmoud Taleb Al-Ali, Pratibha Nair, Christel Castro, Stephany El-Hayek, André Mégarbané, Victor Wakim, Sami Bizzari, Valérie Delague

Publikováno v: Clinical Dysmorphology
Clinical Dysmorphology, Lippincott, Williams & Wilkins, 2021, 30 (1), pp.44-49. ⟨10.1097/MCD.0000000000000348⟩

International audience; The SOX 11gene is a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. Recently, SOX11variants were linked to case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f013db87efa9ea11f5f3ae1eee6af65c
https://hal-amu.archives-ouvertes.fr/hal-03147650

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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

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WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Publikováno v: Human Mutation
Human Mutation, Wiley, 2015, 36 (11), pp.1021-1028. ⟨10.1002/humu.22828⟩
Human Mutation, 2015, 36 (11), pp.1021-1028. ⟨10.1002/humu.22828⟩
Human Mutation, Wiley, 2015, 36 (11), pp.1021-1028. 〈10.1002/humu.22828〉
Human Mutation, 36(11), 1021-1028. Wiley-Liss Inc.

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bca6eee1b0ca6fa8f7516ec743f1df
https://doi.org/10.1002/humu.22828

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A Novel Mutation inFGD4/FRABINCauses Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

Autor: Imen Abid, Emna Kerkeni, Valérie Delague, Ines Ayadi, Chahnez Triki, Rafaëlle Bernard, Inès Hsairi-Guidara, Amandine Boyer, Christel Castro, Nicolas Lévy, Nathalie Bonello-Palot, Hassen Ben Cheikh, Joël Courageot, Chokri Boubaker, Fatma Kamoun

Publikováno v: Annals of Human Genetics. 77:336-343

Summary Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0cc527d4ba341357132dc644ab80be61
https://doi.org/10.1111/ahg.12017

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Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Autor: Francesca Puppo, Catherine Vovan, Rafaëlle Bernard, Christel Castro, Yukiko K. Hayashi, Eugénie Dionnet, Martin Krahn, Nicolas Lévy, Françoise Helmbacher, Kanako Goto, Karine Bertaux, Shahram Attarian, Ichizo Nishino, Frédérique Magdinier, Marc Bartoli, Pascaline Gaildrat, Marie-Cécile Gaillard

Publikováno v: Human Mutation
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-53. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. 〈10.1002/humu.22760〉

International audience; Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplo-types. This main form is indicated as FSHD1. FSHD-like pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7b485af8e0f9cf92a90b1d68d97ba7f
https://pubmed.ncbi.nlm.nih.gov/25615407

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A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family

Autor: Chokri, Boubaker, Inès, Hsairi-Guidara, Christel, Castro, Ines, Ayadi, Amandine, Boyer, Emna, Kerkeni, Joël, Courageot, Imen, Abid, Rafaëlle, Bernard, Nathalie, Bonello-Palot, Fatma, Kamoun, Hassen Ben, Cheikh, Nicolas, Lévy, Chahnez, Triki, Valérie, Delague

Publikováno v: Annals of human genetics. 77(4)

Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary neuropathies characterized by progressive muscular and sensory loss in the distal extremities with chronic distal weakness, deformation of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4bc92f8ff9078e3c0b22d09a538797bb
https://pubmed.ncbi.nlm.nih.gov/23550889

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Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

Autor: Christel Castro, Tarik Hamadouche, Cécile Baudot, Maryam El-Rajab, Clothilde Esteve, Yannick Poitelon, Nicolas Lévy, André Mégarbané, Camille Mas, Valérie Delague

Publikováno v: Journal of the Peripheral Nervous System
Journal of the Peripheral Nervous System, 2012, 17 (2), pp.141-146. ⟨10.1111/j.1529-8027.2012.00405.x⟩
Journal of the Peripheral Nervous System, Wiley-Blackwell, 2012, 17 (2), pp.141-146. ⟨10.1111/j.1529-8027.2012.00405.x⟩

International audience; By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations in FGD4 in two patients fro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5746ead5059c46e5c15a0c471faa4eb8
https://hal-amu.archives-ouvertes.fr/hal-01721501

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