Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Audrey, Benezit"'
Autor:
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Publikováno v:
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad039
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b06949eaa976668e979bbd3a670e289
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889
Autor:
Mathilde, Gaume, Etienne, Saudeau, Marta, Gomez-Garcia de la Banda, Viviane, Azzi-Salameh, Blaise, Mbieleu, Delphine, Verollet, Audrey, Benezit, Jean, Bergounioux, Aben, Essid, Isabelle, Doehring, Ivana, Dabaj, Isabelle, Desguerre, Christine, Barnerias, Vicken, Topouchian, Christophe, Glorion, Susana, Quijano-Roy, Lotfi, Miladi
Publikováno v:
Journal of pediatric orthopedics. 41(9)
Treatment of spinal muscular atrophy (SMA) scoliosis has evolved in the last decade, with the emergence of fusionless surgical techniques that allow correction of the deformity before the end of growth spurt. These techniques are expected to delay de
Autor:
Aben Essid, Lotfi Miladi, Jean Bergounioux, B. Mbieleu, Christophe Glorion, Mathilde Gaume, Viviane Azzi-Salameh, Ivana Dabaj, Audrey Benezit, Susana Quijano-Roy, Christine Barnerias, Isabelle Doehring, Isabelle Desguerre, Marta B. Gómez-García de la Banda, Etienne Saudeau, Delphine Verollet, Vicken Topouchian
Publikováno v:
Journal of Pediatric Orthopaedics.
Background Treatment of spinal muscular atrophy (SMA) scoliosis has evolved in the last decade, with the emergence of fusionless surgical techniques that allow correction of the deformity before the end of growth spurt. These techniques are expected
Autor:
Ivana Dabaj, Corinne Metay, Tanya Stojkovic, Nicolas Leboucq, Susana Quijano-Roy, Jana Haberlová, François Rivier, John Rendu, Giorgio Tasca, David Gómez-Andrés, Audrey Benezit, Ximena Ortega, Fabiana Fattori, Helge Amthor, Edoardo Malfatti, Jana Zídková, Angel Sanchez-Montanez, Norma B. Romero, John Vissing, Clara Gontijo Camelo, Claudia Castiglioni, Marta Gómez García de la Banda, Laura Costa Comellas, Robert Carlier, Pascal Laforêt, Nicoline Løkken, Francina Munell, Christophe Béroud, Martin Kyncl, Eliana Cavassa
Publikováno v:
Journal of Neurology
Journal of Neurology, In press, ⟨10.1007/s00415-021-10806-0⟩
Quijano-Roy, S, Haberlova, J, Castiglioni, C, Vissing, J, Munell, F, Rivier, F, Stojkovic, T, Malfatti, E, Gómez García de la Banda, M, Tasca, G, Costa Comellas, L, Benezit, A, Amthor, H, Dabaj, I, Gontijo Camelo, C, Laforêt, P, Rendu, J, Romero, N B, Cavassa, E, Fattori, F, Beroud, C, Zídková, J, Leboucq, N, Løkken, N, Sanchez-Montañez, Á, Ortega, X, Kynčl, M, Metay, C, Gómez-Andrés, D & Carlier, R Y 2022, ' Diagnostic interest of whole-body MRI in early-and late-onset LAMA2 muscular dystrophies : a large international cohort ', Journal of Neurology, vol. 269, pp. 2414–2429 . https://doi.org/10.1007/s00415-021-10806-0
Journal of Neurology, Springer Verlag, In press, ⟨10.1007/s00415-021-10806-0⟩
Journal of Neurology, In press, ⟨10.1007/s00415-021-10806-0⟩
Quijano-Roy, S, Haberlova, J, Castiglioni, C, Vissing, J, Munell, F, Rivier, F, Stojkovic, T, Malfatti, E, Gómez García de la Banda, M, Tasca, G, Costa Comellas, L, Benezit, A, Amthor, H, Dabaj, I, Gontijo Camelo, C, Laforêt, P, Rendu, J, Romero, N B, Cavassa, E, Fattori, F, Beroud, C, Zídková, J, Leboucq, N, Løkken, N, Sanchez-Montañez, Á, Ortega, X, Kynčl, M, Metay, C, Gómez-Andrés, D & Carlier, R Y 2022, ' Diagnostic interest of whole-body MRI in early-and late-onset LAMA2 muscular dystrophies : a large international cohort ', Journal of Neurology, vol. 269, pp. 2414–2429 . https://doi.org/10.1007/s00415-021-10806-0
Journal of Neurology, Springer Verlag, In press, ⟨10.1007/s00415-021-10806-0⟩
Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the class
Autor:
Alessandro Amaddeo, Julien Durigneux, Christine Barnerias, Ivana Dabaj, Susana Quijano-Roy, Robert Carlier, Brigitte Fauroux, Isabelle Desguerre, Audrey Benezit, Sandrine Pruvost, Marta B. Gómez-García de la Banda, Sonia Khirani
Publikováno v:
Pediatric Pulmonology
Pediatric Pulmonology, Wiley, 2021, 56 (1), pp.299-306. ⟨10.1002/ppul.25142⟩
Pediatric Pulmonology, Wiley, 2021, 56 (1), pp.299-306. ⟨10.1002/ppul.25142⟩
International audience; Introduction: Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory muscles performance and lung function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9daee0d4d3afe250cfbbb75e245f7e5e
https://hal.archives-ouvertes.fr/hal-03127510
https://hal.archives-ouvertes.fr/hal-03127510
Autor:
Bonnichon, Delphine, Audrey, Benezit
Publikováno v:
Handicap et génétique
Handicap et génétique, pp.159-173, 2020
Handicap et génétique, pp.159-173, 2020
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a03dfe7fd0dcd4f85d1d5dff4eaa45
https://doi.org/10.3917/eres.gargi.2020.01.0157
https://doi.org/10.3917/eres.gargi.2020.01.0157
Autor:
A. Oulhissane, I. Doehring, Helge Amthor, Isabelle Desguerre, Lotfi Miladi, Christophe Glorion, Robert-Yves Carlier, Mathilde Gaume, M. Gomez-Garcia de la Banda, Ivana Dabaj, Susana Quijano-Roy, Jean Bergounioux, D. Verollet, Christine Barnerias, V. Azzi-Salameh, Aben Essid, B. Mbieleu, Audrey Benezit, Etienne Saudeau
Publikováno v:
Neuromuscular Disorders. 31:S126
Autor:
Robert-Yves Carlier, Anders Oldfors, Susana Quijano-Roy, Carola Hedberg-Oldfors, Norma B. Romero, Christine Barnerias, Edoardo Malfatti, Audrey Benezit, Cyril Gitiaux
Publikováno v:
Neuromuscular disorders : NMD. 26(10)
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-y