Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Paulina Cunha; Emilien Petit; Marie Coutelier; Giulia Coarelli; Caterina Mariotti; Jennifer Faber; Judith van Gaalen; Joana Damasio; Zofia Fleszar; Michele Tosi; Clarissa Rocca; Giovanna de Michele; Martina Minnerop; Claire Ewenczyk; Filippo Santorelli; Anna Heinzmann; Thomas 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 Dario 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 de Bot; Giovanni Ristori; Lubov Blumkin; Barbara Borroni; Cyril Goizet; Cecilia 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; Ludger Schöls; Franco Taroni; Alexis Brice; Alexandra Durr

doi:10.1016/j.ajhg.2023.05.009

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

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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 Damasio, Zofia Fleszar, Michele Tosi, …

American Journal of Human Genetics, Vol.110(7), pp.1098-1109

07/2023

DOI: https://doi.org/10.1016/j.ajhg.2023.05.009

PMCID: PMC10357418

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Titre: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Créateurs - sans rôle: Paulina Cunha - Centre National de la Recherche Scientifique
Emilien Petit - Centre National de la Recherche Scientifique
Marie Coutelier - Sorbonne Université
Giulia Coarelli - Pitié-Salpêtrière Hospital
Caterina Mariotti - Fondazione IRCCS Istituto Neurologico Carlo Besta
Jennifer Faber - University Hospital Bonn
Judith van Gaalen - Radboud University Medical Center
Joana Damasio - i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
Zofia Fleszar - German Center for Neurodegenerative Diseases
Michele Tosi - Bambino Gesù Children's Hospital
Clarissa Rocca - King's College London
Giovanna de Michele - University of Naples Federico II
Martina Minnerop - Forschungszentrum Jülich
Claire Ewenczyk - Institut du Cerveau
Filippo Santorelli - Fondazione Stella Maris
Anna Heinzmann - Sorbonne Université
Thomas Bird - University of Washington
Matthias Amprosi - Innsbruck Medical University
Elisabetta Indelicato - Innsbruck Medical University
Alberto Benussi - University of Brescia
Perrine Charles - Assistance Publique – Hôpitaux de Paris
Claudia Stendel - Ludwig-Maximilians-Universität München
Silvia Romano - Sapienza University of Rome
Marina Scarlato - Vita-Salute San Raffaele University
Isabelle Le Ber - Institut du Cerveau
Maria Teresa Bassi - IRCCS Eugenio Medea
Mercedes Serrano - Hospital Sant Joan de Déu Barcelona
Tanja Schmitz-Hübsch - Charité - Universitätsmedizin Berlin
Sarah Doss - Charité - Universitätsmedizin Berlin
Gijs A.J. van Velzen - Leiden University Medical Center
Quentin Thomas - Maison des Sciences sociales et des Humanités de Dijon
Antonio Trabacca - IRCCS Eugenio Medea
Juan Dario Ortigoza-Escobar - Hospital Sant Joan de Déu Barcelona
Stefano d'Arrigo - Fondazione IRCCS Istituto Neurologico Carlo Besta
Dagmar Timmann - University of Duisburg-Essen
Chiara Pantaleoni - Fondazione IRCCS Istituto Neurologico Carlo Besta
Andrea Martinuzzi - IRCCS Eugenio Medea
Elsa Besse-Pinot - Charmo University
Luca Marsili - University of Cincinnati
Ettore Cioffi - Sapienza University of Rome
Francesco Nicita - Bambino Gesù Children's Hospital
Alejandro Giorgetti - Forschungszentrum Jülich
Isabella Moroni - Fondazione IRCCS Istituto Neurologico Carlo Besta
Romina Romaniello - IRCCS Eugenio Medea
Carlo Casali - Sapienza University of Rome
Penina Ponger - Tel Aviv Sourasky Medical Center
Giorgio Casari - Vita-Salute San Raffaele University
Susanne de Bot - Leiden University Medical Center
Giovanni Ristori - Azienda Ospedaliera Sant'Andrea
Lubov Blumkin - Wolfson Medical Center
Barbara Borroni - University of Brescia
Cyril Goizet - Centre National de la Recherche Scientifique
Cecilia Marelli - Université de Montpellier, Mécanismes Moléculaires dans les Démences Neurodégénératives - MMDN
Sylvia Boesch - Innsbruck Medical University
Mathieu Anheim - Université de Strasbourg
Alessandro Filla - University of Naples Federico II
Henry Houlden - King's College London
Enrico Bertini - Bambino Gesù Children's Hospital
Thomas Klopstock - Ludwig-Maximilians-Universität München
Matthis Synofzik - Hertie Institute for Clinical Brain Research
Florence Riant - Hôpital Saint-Louis
Ginevra Zanni - Bambino Gesù Children's Hospital
Stefania Magri - Fondazione IRCCS Istituto Neurologico Carlo Besta
Daniela Di Bella - Fondazione IRCCS Istituto Neurologico Carlo Besta
Lorenzo Nanetti - Fondazione IRCCS Istituto Neurologico Carlo Besta
Jorge Sequeiros - i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
Jorge Oliveira - i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
Bart van de Warrenburg - Radboud University Nijmegen
Ludger Schöls - German Center for Neurodegenerative Diseases
Franco Taroni - Fondazione IRCCS Istituto Neurologico Carlo Besta
Alexis Brice - Institut du Cerveau
Alexandra Durr - Institut du Cerveau
Détails de publication: American Journal of Human Genetics, Vol.110(7), pp.1098-1109
Identifiants: 99161405309311
Unité académique: Mécanismes Moléculaires dans les Démences Neurodégénératives - MMDN
Langue: English
Type de ressource: Journal article
Champs locaux: hal-04672981