Výsledky vyhledávání - Mathilde Renaud
- Zobrazuji výsledky 1 - 4 z 4
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1
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology Autor Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Van Goethem, Magali Taulan‐Cadars, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaëlle Corbillé, Mireille Cossée, Raúl Juntas Morales, Sylvie Tuffery‐Giraud, M. Kœnig, Bertrand Isidor, Marie-Claire Vincent
Vydáno 2022Artigo -
2
Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia Autor Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clément, Sophie Planel, Céline Bonnet, Phillipa J. Lamont, Karthik Kulanthaivelu, Atchayaram Nalini, Henry Houlden, Antoine Duquette, Marie-Josée Dicaire, Pablo Iruzubieta, Javier Ruiz‐Martínez, Erin P. Lucas, Rodrigo Sutil Berjon, Jon Infante, Elisabetta Indelicato, Sylvia Boesch, Matthis Synofzik, Benjamin Bender, Matt C. Danzi, Stephan Züchner, David Pellerin, Bernard Brais, Mathilde Renaud, Roberta La Piana
Vydáno 2025Artigo -
3
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia Autor Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Dürr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Kœnig, Pierre Labauge, Eric Leguern, Karine Nguyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Alexandra Dürr, Eric Leguern, Giovanni Stévanin
Vydáno 2021Artigo -
4
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions Autor Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie‐Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot‐Noël, Sylvie Forlani, Ludmila Jornéa, Anna Heinzmann, Aude Sangaré, Bertrand Gaymard, Lucie Guyant‐Maréchal, Perrine Charles, Cécilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, M. Simonetta‐Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stévanin, Sandrine Noël, Anne‐Laure Fauret‐Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Dürr
Vydáno 2023Artigo
Vyhledávací nástroje:
Související témata
Ataxia
Biology
Cerebellar ataxia
Gene
Genetics
Medicine
Neuroscience
Physical medicine and rehabilitation
Allele
Bioinformatics
Cerebellum
Cerebral palsy
Exon
Frameshift mutation
Genetic heterogeneity
Genetic testing
Hereditary spastic paraplegia
Paraplegia
Phenotype
Polymerase chain reaction
Psychiatry
Psychology
Spastic
Spinal cord
Spinocerebellar ataxia