Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Claire Ewenczyk"'
Autor:
Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, for the EFACTS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)
Abstract Background The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA). Methods To asse
Externí odkaz:
https://doaj.org/article/4c3b33ada73f4a84b5a8c6fca707bd4a
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 Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion 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 Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104931- (2024)
Summary: Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in indivi
Externí odkaz:
https://doaj.org/article/b26cd43fea5a421e9fcee91863d8d690
Autor:
Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Mario Fichera, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Holger Rauhut, Jörg B. Schulz, Kathrin Reetz
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinat
Externí odkaz:
https://doaj.org/article/ed878735d7364c09bd52d4f117032190
Autor:
François-Xavier Lejeune, Farid Ichou, Etienne Camenen, Benoit Colsch, Florence Mauger, Caroline Peltier, Ivan Moszer, Emmanuel Gilson, Morgane Pierre-Jean, Edith Le Floch, Victor Sabarly, Arthur Tenenhaus, Jean-François Deleuze, Claire Ewenczyk, Marie Vidailhet, Fanny Mochel
Publikováno v:
International Journal of Translational Medicine, Vol 2, Iss 1, Pp 97-112 (2022)
Parkinson’s disease (PD) is the second most common neurodegenerative disease clinically characterized by classical motor symptoms and a range of associated non-motor symptoms. Due to the heterogeneity of symptoms and variability in patient prognosi
Externí odkaz:
https://doaj.org/article/e849da5d84614d95817ed83589da9e1f
Autor:
Stéphanie Borel, Peggy Gatignol, Mustapha Smail, Marie‐Lorraine Monin, Claire Ewenczyk, Didier Bouccara, Alexandra Durr
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1888-1892 (2019)
Abstract Our objective was to identify a sensitive marker of disease progression in Friedreich’s ataxia. We prospectively evaluated speech, voice, and oromotor function in 40 patients at two timepoints. The mean disease duration was 20.8 ± 9.8 yea
Externí odkaz:
https://doaj.org/article/4994d13e313c4c6181d97476f4fa1fb1
Autor:
Lise Legrand, Carole Maupain, Marie-Lorraine Monin, Claire Ewenczyk, Richard Isnard, Rana Alkouri, Alexandra Durr, Francoise Pousset
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 6, p 1630 (2020)
Background: Friedreich’s ataxia (FA) is a rare autosomal recessive mitochondrial disease resulting of a triplet repeat expansion guanine-adenine-adenine (GAA) in the frataxin (FXN) gene, exhibiting progressive cerebellar ataxia, diabetes and cardio
Externí odkaz:
https://doaj.org/article/6de9290f16c440d3b67334a6c998b3f3
Autor:
Anne-Claire Dorsemans, Benoît Verdon, Manuella de Luca, Alexandra Durr, Claire Ewenczyk, Marcela Garguilo
Publikováno v:
Le Carnet PSY. :40-45
Autor:
Pauline Lallemant-Dudek, Livia Parodi, Giulia Coarelli, Anna Heinzmann, Perrine Charles, Claire Ewenczyk, Silvia Fenu, Marie-Lorraine Monin, Philippe Corcia, Christel Depienne, Fanny Mochel, Jean Benard, Sophie Tezenas du Montcel, Alexandra Durr
Publikováno v:
Annals of Physical and Rehabilitation Medicine. 66:101732
Autor:
Jean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Léna Guillot-Noël, Anna Castrioto, Perrine Charles, Giulia Coarelli, Claire Ewenczyk, Stephan Klebe, Anna Heinzmann, Aurélie Méneret, Anne-Laure Fauret-Amsellem, Jean-Madeleine de Sainte Agathe, Alexis Brice, Alexandra Durr
Publikováno v:
Journal of medical genetics.
Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing of four repeat expansions accounting for most dominant cases, then targeted sequencing of other genes. Nowadays, genome sequencing allows
Autor:
Anne-Claire Dorsemans, Giulia Coarelli, Anna Heinzmann, Alexandra Durr, Marcela Gargiulo, Claire Ewenczyk
Publikováno v:
H: Clinical care and clinical services.