Zobrazeno 1 - 10
of 262
pro vyhledávání: '"Cyril, Goizet"'
Autor:
Christelle M. Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background VPS13D is a large ubiquitin-binding protein playing an essential role in mitophagy by regulating mitochondrial fission. Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological
Externí odkaz:
https://doaj.org/article/278aa308874d43398a0d4a027302f992
Autor:
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau, Denis Wahl, Patricia Fergelot, Cyril Goizet, Tristan Mirault, Xavier Jeunemaitre, Juliette Albuisson, Bordeaux-cohort collaborators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue
Externí odkaz:
https://doaj.org/article/d0fc9cf40c2a4de0a8134ace8ab5266e
Autor:
Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the
Externí odkaz:
https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0
Autor:
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
Summary: Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional propert
Externí odkaz:
https://doaj.org/article/27289a7516ba4ba9b422fb966fcb4594
Autor:
Brice Laurens, Claire Delleci, Cyril Goizet, Umberto Spampinato, Pierre Burbaud, Etienne Guillaud, Emma Bestaven, Dominique Guehl
Publikováno v:
Clinical Case Reports, Vol 8, Iss 9, Pp 1806-1808 (2020)
Abstract The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expa
Externí odkaz:
https://doaj.org/article/fb2300c750c94e3687211eaa84a82256
Autor:
Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 2, p 212 (2022)
Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of patients getting a positive diagnosis. However, while single-nucleotide variants (SNVs) or small indels can be easily detected, structural variations
Externí odkaz:
https://doaj.org/article/5af297b53988446991803c40093d6453
Autor:
Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y‐aminobutyric acid (GABA) is a major inhibitor
Externí odkaz:
https://doaj.org/article/2953f38a05f94b3ba93aa65cf0fdc85f
Autor:
Anna-Gaelle Valard-Giguet, Jacqueline Véronique-Baudin, Yannis Duffourd, Jocelyn Inamo, Cyril Goizet, Rémi Bellance, Juliette Smith-Ravin
Publikováno v:
Journal of Global Health Reports, Vol 4 (2020)
Neurodegenerative diseases (NDs) are very polymorphic and affect people of all ages. They concern both rare diseases and more common diseases. Improving knowledge of NDs in the French Caribbean region requires special attention because of the unique
Externí odkaz:
https://doaj.org/article/9fb2e700b5644e8ea4d89888cb4a0de0
Autor:
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglust
Externí odkaz:
https://doaj.org/article/78eb2cb04dab43348fe7f8edcd6dfb27
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
Autor:
Hugo Bakis, Aurélien Trimouille, Agathe Vermorel, Cyril Goizet, Yaniss Belaroussi, Sacha Schutz, Guilhem Solé, Christian Combe, Marie-Laure Martin-Negrier, Claire Rigothier
Publikováno v:
Clinical Kidney Journal. 16:100-110
Background Mitochondrial functions are controlled by genes of both mitochondrial and nuclear DNA. Pathogenic variants affecting any of these are responsible for primary mitochondrial disorders (MIDs), which can be diagnosed during adulthood. Kidney f