Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Guillemette Clément"'
Autor:
Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renaud
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read se
Externí odkaz:
https://doaj.org/article/0d70ee88682e4fa7856f2671e03a40cc
Autor:
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Publikováno v:
Clinical Genetics. 103:346-351
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal
Autor:
Guillemette Clément, Thomas Wirth, Lucile Haumesser, Marie des Neiges Santin, Jimmy Voirin, Ouhaid Lagha-Boukbiza, Céline Labonne, Christine Tranchant, Nadine Longato, Clélie Phillipps, Mathieu Anheim
Publikováno v:
Parkinsonism & Related Disorders. 105:15-18
Language disorders in Parkinson's Disease (PD) following bilateral subthalamic Nucleus Deep Brain Stimulation (STN-DBS) are common.To assess STN-DBS impact on language and observe clinical and anatomical predictors of poor outcome.We prospectively in
Autor:
Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renaud
BackgroundDominantly inherited GAA repeat expansions inFGF14are a common cause of spinocerebellar ataxia (GAA-FGF14ataxia; SCA27B, late-onset). Molecular confirmation ofFGF14GAA repeat expansions has thus far mostly relied on long-read sequencing, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::184ab9d8411133f69faabeebb69fcbe6
https://doi.org/10.1101/2023.02.02.23285206
https://doi.org/10.1101/2023.02.02.23285206
Autor:
Guillemette Clément, Mathilde Renaud, Virginie Roth, Armand Hocquel, David Pellerin, Bernard Brais, Céline Bonnet
Publikováno v:
Revue Neurologique. 179:S45
Autor:
Guillemette Clément, Thomas Wirth, Ouhaid Lagha-Boukbiza, Jimmy Voirin, Clélie Philipps, Nadine Longato, Mathieu Anheim
Publikováno v:
Revue Neurologique. 179:S27
Autor:
Guillemette Clément, Nicolas Carpentier, Mickaël Ferrand, Mylène Meyer, Laura Lavigne, Solène Frismand
Publikováno v:
Revue Neurologique. 178:S136