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Alexandra Dürr

institut du cerveau-paris brain institute-icm

119H-index
855Paper Count
5.9WCitation Count
Published Papers 367
Publication Date
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.
err2026-05-23
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errOAAI
errMaresa Buchholz; Victoire Monier; Claire Ewenczyk; Anna Heinzmann; Lucie Pierron; Sabrina Sayah; Rania Hilab; Mariana Atencio; Elodie Petit; Fanny Bertrand; Alix Vallancien; Chloé Diot; Stéphan Rouillon; Andreas Nadke; Katrin Feldmann; Vivian Maas; Jennifer Faber; Dorota Sarwinska; Sylvia M. Boesch; Elisabetta Indelicato; Almut T. Bischoff; Thomas Klopstock; Jörg B. Schulz; Kathrin Reetz; Zofia Fleszar; Audrey Iskandar; Thomas Klockgether; Marcus Grobe-Einsler; Feng Xie; Brittany Humphries; Bernhard Michalowsky; Alexandra Durr; Stéphanie Borel
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A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia
err2026-05-10
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PREAI
errJason W. Robertson PhD; Isaac Adanyeguh PhD; David J. Arpin PhD; Tetsuo Ashizawa MD; Benjamin Bender PhD; Fernando Cendes MD, PhD; Xi Chen MSc; Giulia Coarelli MD, PhD; Léo Coutinho MD; Andreas Deistung PhD; Imis Dogan PhD; Alexandra Durr MD, PhD; Jennifer Faber MD, PhD; for the ESMI MR Study Group; Juan Fernandez-Ruiz PhD; Mónica Ferreira MSc; Marcondes C. França MD, PhD; Sophia L. Göricke MD; Shuo Han PhD; Thomas Klockgether MD, PhD; Chen Liu PhD; Jun Luo MSc; Alberto R.M. Martinez MD, PhD; Sergio E. Ono MD, PhD; Chiadi U. Onyike MD; Gülin Öz PhD; for the EUROSCA MR Study Group; Henry Paulson MD; Jerry L. Prince PhD; Kathrin Reetz MD; Thiago J.R. Rezende PhD; Matthis Synofzik MD; Hélio A. Ghizoni Teive MD, PhD; Sophia I. Thomopoulos BA; Paul M. Thompson PhD; Dagmar Timmann MD; David Vaillancourt PhD; Bart van de Warrenburg MD, PhD; Judith van Gaalen MD; Xingang Wang MSc; Philipp Wegner MSc; Sarah H. Ying MD; Ian H. Harding PhD; Carlos R. Hernandez-Castillo PhD
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Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1
err2026-04-09
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errOAAI
errColette J.M. Reniers MSc; Teije H. van Prooije MD, MSc; Kirsten C.J. Kapteijns MSc; Jack J.A. van Asten MSc; Caterina Mariotti MD; Lidia Sarro MD; Anna Nigri PhD; Marina Grisoli MD; Giulia Coarelli MD, PhD; Alexandra Durr MD, PhD; Tom Scheenen PhD; Bart van de Warrenburg MD, PhD
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Lessons learned from 30 years of presymptomatic testing in Huntington Disease
err2025-11-12
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PREAI
errL. Pierron; M. Hébert; M. Gargiulo; A. Durr
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Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3
errBrain
IF11.7
err2025-10-28
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PREAI
errEmilien Petit; Giulia Coarelli; David Morgan; Paulina Cunha; Hortense Hurmic; Jennifer Faber; Marcus Grobe-Einsler; Thiago Rezende; Sheng-Han Kuo; George R Wilmot; Liana S Rosenthal; Jeremy D Schmahmann; Talene A Yacoubian; Susan L Perlman; Michael D Geschwind; Christopher M Gomez; Trevor Hawkins; S H Subramony; Vikram G Shakkottai; Khalaf O Bushara; Theresa A Zesiewicz; Stefan M Pulst; Young Woo Park; Christophe Lenglet; Thomas Klockgether; Henry L Paulson; Alexandra Durr; Gülin Öz; Tetsuo Ashizawa; Sophie Tezenas du Montcel
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Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families
err2025-10-17
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errOAAI
errGuillaume Cogan; Christelle Tesson; Lisa Welment; Fabienne Clot; Eric LeGuern; Aymeric Lanore; Alexandra Dürr; Florence Cormier-Dequaire; Bérengère Debilly; Marc Planes; Graziella Mangone; Suzanne Lesage; Alexis Brice
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Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study
err2025-10-10
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errOAAI
errStella Andrea Lischewski MD; Imis Dogan PhD; Paola Giunti MD; Michael H. Parkinson MD; Caterina Mariotti MD; Alexandra Durr MD; Claire Ewenczyk MD; Sylvia Boesch MD; Wolfgang Nachbauer MD; Thomas Klopstock MD; Claudia Stendel MD; Francisco Javier Rodríguez de Rivera Garrido MD; Ludger Schöls MD; Zofia Fleszar MD; Thomas Klockgether MD; Marcus Grobe-Einsler MD; Ilaria Giordano MD; Myriam Rai PhD; Massimo Pandolfo MD; Heike Jacobi MD; Ralf-Dieter Hilgers PhD; Jörg B. Schulz MD; Kathrin Reetz MD; the EFACTS Study Group
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Comparison of tetrabenazine, tiapride and olanzapine in Huntington’s disease: a one-year French randomized multicenter study (Neuro-HD)
err2025-09-03
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PREAI
errKatia Youssov; Etienne Audureau; Jérémie Pariente; Jean-Philippe Azulay; Isabelle Benatru; Alexandra Durr; Pierre Krystkowiak; Cecilia Marelli; Christine Tranchant; Clémence Simonin; Christophe Verny; Anne-Catherine Bachoud-Lévi
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A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesis
err2025-08-23
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PREAI
errSharon Bratman Morag; Chen Itzkovich; Alina Kurolap; Mordechai Shohat; Alexandra Durr; Jean-Madeleine de Sainte Agathe; Jeremy Bertrand; Arie Koifman; Anna Alkelai; Alan R. Shuldiner; Adi Mory; Tamar Harel; Hagar Mor-Shaked; Adel Shalata; Tamar Paperna; Hagit Baris Feldman; Reli Rachel Kakun; Daniel Kornitzer; Adi Salzberg; Karin Weiss
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Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia
err2025-08-20
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errOAAI
errCécile Di Folco MsC; Charlotte Dubec-Fleury MsC; Andreas Traschütz MD, PhD; Christoph Kessler MD; Selina Reich MsC; Cynthia Gagnon PhD; Isabelle Lessard MsC; Xavier Rodrigue MD; Sirio Cocozza MD, PhD; Sara Satolli MD; Filippo M. Santorelli MD; Alexandra Durr MD, PhD; Anna Heinzmann MD; Bart P. van de Warrenburg MD; Ilse H.J. Willemse MsC; A. Nazli Başak MD; Atay Vural MD; Bernard Brais MD; Stephan Klebe MD; Rita Horvath MD, PhD; PROSPAX Consortium; Rebecca Schüle MD; Matthis Synofzik MD, PhD; Sophie Tezenas du Montcel MD, PhD
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Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia
errBRAIN
IF11.7
err2025-08-01
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PREAI
errMouraux, Charlotte; Mereaux, Jean-Loup; Davoine, Claire-Sophie; Guillot-Noel, Lena; Brice, Alexis; Durr, Alexandra; Coarelli, Giulia
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The Two Faces of Pediatric SCA2
err2025-07-31
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errNicolas Rive Le Gouard; Maissa G. Bah; Giulia Coarelli; Anna Heinzmann; Anne-Laure Fauret; Jean-Madeleine de Sainte-Agathe; Cécile Cazeneuve; Anna Gerasimenko; Domitille Gras; Yline Capri; Mathilde Renaud; Bernard Brais; Cecile Grenenko; Alice Masurel; Patrick Berquin; Florence Jobic; Julia Métreau; Kumaran Deiva; Alexandra Afenjar; Victor Gravrand; Annie Lannuzel; Mathieu Anheim; Tobias Geis; Ute Hehr; Jennifer Madan Cohen; Béatrice Desnous; Anneke J. A. Kievit; Nadia Bahi-buisson; Diana Rodriguez; Florence Renaldo; Claude Cances; David Devos; Chloé Angelini; Cyril Goizet; Claire Ewenczyk; Alexandra Durr; Cyril Mignot
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Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series
err2025-07-10
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PREAI
errArmand Hocquel; David Pellerin; Jean loup Méreaux; Vincent Huin; Marios Hadjivassiliou; Guillemette Clément; Felipe Villa; Salomé Puisieux; Solène Frismand; Marion Wandzel; Virginie Roth; Anna Wissocq; Thomas Wirth; Matt C. Danzi; Isabelle Quadrio; Stephan Zuchner; Laetitia Lambert; Fanny Mochel; Matthis Synofzik; Mathieu Anheim; Henry Houlden; Alexis Brice; Carine Pourié; Bernard Brais; Céline Bonnet; Alexandra Durr; Mathilde Renaud
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French guidelines for the diagnosis and management of pure hereditary spastic paraplegia
err2025-05-30
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errL. Mania-Pâris; C. Ewenczyk; G. Nicolas; M. Anheim; A. Durr; B. Pichon; M.-E. Isner-Horobeti; C. Angelini; C. Goizet; A. Roubertie; B. Soudrie; J.-B. Davion; I. Marolleau; I. Maumy; V. Pichon; C. Thauvin; Q. Thomas
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Effect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease
err2025-01-28
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PREAI
errMochel, Fanny; Meneret, Aurelie; Adanyeguh, Isaac M.; Giron, Camille; Hainque, Elodie; Luton, Marie-Pierre; Atencio, Mariana; Debs, Rabab; Jacobs, Milou; Veldkamp, Fleur C. M.; Barbier, Magali; Coppen, Emma M.; van der Zwaan, Kasper F.; Diallo, Abdourahmane; Ottolenghi, Chris; Vicaut, Eric; Roos, Raymond A.; Durr, Alexandra
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Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy (vol 19, 61, 2024)
err2024-10-14
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errWang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C.; Dopper, Elise; Ghetti, Bernardino F.; Newell, Kathy L.; Troakes, Claire; de Yebenes, Justo G.; Rabano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H.; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Mueller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G.; Serrano, Geidy E.; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A.; Galasko, Douglas; Boxer, Adam L.; Miller, Bruce L.; Seeley, Willian W.; Van Deerlin, Vivanna M.; Lee, Edward B.; White III, Charles L.; Morris, Huw; de Silva, Rohan; Crary, John F.; Goate, Alison M.; Friedman, Jeffrey S.; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C.; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W.; Hoeglinger, Guenter U.; Schellenberg, Gerard D.; Geschwind, Daniel H.; Lee, Wan-Ping
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Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers
err2024-09-10
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errOAAI
errCoarelli, Giulia; Dubec-Fleury, Charlotte; Petit, Emilien; Sayah, Sabrina; Fischer, Clara; Nassisi, Marco; Gatignol, Peggy; Dorgham, Karim; Daghsen, Lina; Daye, Pierre; Cunha, Paulina; Kacher, Radhia; Hilab, Rania; Hurmic, Hortense; Lamaziere, Antonin; Lamy, Jean-Charles; Welter, Marie-Laure; Chupin, Marie; Mangin, Jean-Francois; Lane, Roger; Gaymard, Bertrand; Pouget, Pierre; Audo, Isabelle; Brice, Alexis; Tezenas du Montcel, Sophie; Durr, Alexandra
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Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice
err2024-09-01
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errOAAI
errFortier, Manon; Cauhape, Margaux; Buono, Suzie; Becker, Julien; Menuet, Alexia; Branchu, Julien; Ricca, Ivana; Mero, Serena; Dorgham, Karim; El Hachimi, Khalid-Hamid; Dobrenis, Kostantin; Colsch, Benoit; Samaroo, Dominic; Devaux, Morgan; Durr, Alexandra; Stevanin, Giovanni; Santorelli, Filippo M.; Colombo, Sophie; Cowling, Belinda; Darios, Frederic
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Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
err2024-08-16
err2
errOAAI
errWang, Hui; Chang, Timothy S.; Dombroski, Beth A.; Cheng, Po-Liang; Patil, Vishakha; Valiente-Banuet, Leopoldo; Farrell, Kurt; Mclean, Catriona; Molina-Porcel, Laura; Rajput, Alex; De Deyn, Peter Paul; Le Bastard, Nathalie; Gearing, Marla; Kaat, Laura Donker; Van Swieten, John C.; Dopper, Elise; Ghetti, Bernardino F.; Newell, Kathy L.; Troakes, Claire; de Yebenes, Justo G.; Rabano-Gutierrez, Alberto; Meller, Tina; Oertel, Wolfgang H.; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Roeber, Sigrun; Mueller, Ulrich; Hopfner, Franziska; Pastor, Pau; Brice, Alexis; Durr, Alexandra; Le Ber, Isabelle; Beach, Thomas G.; Serrano, Geidy E.; Hazrati, Lili-Naz; Litvan, Irene; Rademakers, Rosa; Ross, Owen A.; Galasko, Douglas; Boxer, Adam L.; Miller, Bruce L.; Seeley, Willian W.; Van Deerlin, Vivanna M.; Lee, Edward B.; White III, Charles L.; Morris, Huw; de Silva, Rohan; Crary, John F.; Goate, Alison M.; Friedman, Jeffrey S.; Leung, Yuk Yee; Coppola, Giovanni; Naj, Adam C.; Wang, Li-San; Dalgard, Clifton; Dickson, Dennis W.; Hoeglinger, Guenter U.; Schellenberg, Gerard D.; Geschwind, Daniel H.; Lee, Wan-Ping
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The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
err2024-08-01
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errWeber, Jonasz J.; Czisch, Leah; Sena, Priscila Pereira; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Eltemur, Rana D. Incebacak; Wuerth, Anna; Weishaeupl, Daniel; Doecker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; Franca Jr, Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schoels, Ludger; Riess, Olaf; Schmidt, Thorsten
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