Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Audrey Labalme"'
Autor:
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 951-959 (2024)
Abstract Objectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic
Externí odkaz:
https://doaj.org/article/5869bb0106244745b99b7d725dff3c47
Autor:
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche
Publikováno v:
EBioMedicine, Vol 84, Iss , Pp 104244- (2022)
Summary: Background: De novo missense variants in KCNQ5, encoding the voltage-gated K+ channel KV7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-relate
Externí odkaz:
https://doaj.org/article/aa9f823e4e9b426daf63245606235ec0
Autor:
Ilaria Mosca, Ilaria Rivolta, Audrey Labalme, Paolo Ambrosino, Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Elena Freri, Anna Binda, Gaetan Lesca, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Pathogenic variants in KCNQ2 encoding for Kv7.2 potassium channel subunits have been found in patients affected by widely diverging epileptic phenotypes, ranging from Self-Limiting Familial Neonatal Epilepsy (SLFNE) to severe Developmental and Epilep
Externí odkaz:
https://doaj.org/article/748e8ad004ae4546ab0b3b0ff6a1ecdb
Autor:
Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutati
Externí odkaz:
https://doaj.org/article/5729d532dd9647dfafac61eb5dbf6537
Autor:
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Séverine Mazaud-Guittot, Stéphane Dréano, Bertrand Evrard, Antoine Bigand, Aurélie Cauchoix, Philippe Loget, Anna Lokchine, Laurence Cluzeau, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Publikováno v:
Genes, Vol 14, Iss 2, p 273 (2023)
Sexual development is a complex process relying on numerous genes. Disruptions in some of these genes are known to cause differences of sexual development (DSDs). Advances in genome sequencing allowed the discovery of new genes implicated in sexual d
Externí odkaz:
https://doaj.org/article/5e7f933021ff4a3fa80319bb88aad4fa
Autor:
Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)
Abstract Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social di
Externí odkaz:
https://doaj.org/article/11f492c26ac74b05ad0d3a1140c45abd
Autor:
Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations fo
Externí odkaz:
https://doaj.org/article/ae56b6265fa24c479aa4aa6363b6a984
Autor:
Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion‐Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery, Damien Sanlaville
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background Pallister–Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic f
Externí odkaz:
https://doaj.org/article/8efea89c7dd142268e69be16c5bc2d92
Autor:
Philippe Joly, Caroline Schluth-Bolard, Philippe Lacan, Claire Barro, Serge Pissard, Audrey Labalme, Damien Sanlaville, Catherine Badens
Publikováno v:
Haematologica, Vol 98, Iss 1 (2013)
Externí odkaz:
https://doaj.org/article/34ef3a4b0fd4496986553d0ae4b600d9
Autor:
Philippe Joly, Philippe Lacan, Audrey Labalme, Elodie Bonhomme, Damien Sanlaville, Alain Francina
Publikováno v:
Haematologica, Vol 95, Iss 5 (2010)
Externí odkaz:
https://doaj.org/article/c30d5ace56324300a75980baa51d4e35