Որոնման արդյունքները - Anna Heinzmann
- Ցուցադրվում են 1 - 7 արդյունքները 7
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2
CAG repeat mosaicism is gene specific in spinocerebellar ataxias Radhia Kacher, François‐Xavier Lejeune, I. Rodenhiser David, Susana Boluda, Giulia Coarelli, Sabrina Leclère-Turbant, Anna Heinzmann, Cécilia Marelli, Perrine Charles, Cyril Goizet, Nisha Kabir, Rania Hilab, Ludmila Jornéa, Julie Six, Marc Dommergues, Anne-Laure Fauret, Alexis Brice, Sandrine Humbert, Alexandra Dürr
Հրապարակվել է 2024Artigo -
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Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin, Marie‐Lorraine Monin, Hortense Hurmic, Fabienne Calvas, Patrick Calvas, Cyril Goizet, Stéphane Thobois, Mathieu Anheim, Karine Nguyen, David Devos, Christophe Verny, Vito A. G. Ricigliano, Jean‐François Mangin, Alexis Brice, Sophie Tézenas du Montcel, Alexandra Dürr
Հրապարակվել է 2022Artigo -
4
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot‐Noël, Sabrina Sayah, Anne-Laure Fauret, Jean‐Philippe Neau, Lucie Guyant‐Maréchal, Didier Deffond, Christine Tranchant, Cyril Goizet, Giulia Coarelli, Anna Castrioto, Stephan Klebe, Claire Ewenczyk, Anna Heinzmann, Perrine Charles, Maya Tchikviladzé, Christine Van Broeckhoven, Alexis Brice, Alexandra Dürr
Հրապարակվել է 2022Artigo -
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Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich, Jan Marco Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Dürr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter De Jonghe, Willem De Ridder, Matthieu Béreau, Stephanie Demuth, Christos Ganos, A. Nazlı Başak, Haşmet Hanağası, Semra Hız Kurul, Benjamin Bender, Lüdger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horváth, Bart van de Warrenburg, Lydie Bürglen, Christelle Rougeot, Claire Ewenczyk, Michel Kœnig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias B. Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik
Հրապարակվել է 2020Artigo -
6
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions 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
Հրապարակվել է 2023Artigo -
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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr
Հրապարակվել է 2023Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Medicine
Spinocerebellar ataxia
Allele
Internal medicine
Ataxia
Disease
Pathology
Pediatrics
Phenotype
Psychiatry
Trinucleotide repeat expansion
Age of onset
Alternative medicine
Amyotrophic lateral sclerosis
Asystole
Atrophy
Blood pressure
Cardiology
Cerebellar ataxia
Cerebellum
Circadian rhythm
Clinical endpoint
Clinical trial
Coding region
Cohort
Dystonia
Environmental health