Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

Autor: Cunha P; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Petit E; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Coutelier M; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Coarelli G; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Mariotti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Faber J; German Center for Neurodegenerative Disease (DZNE), 53127 Bonn, Germany; Department of Neurology, University Hospital of Bonn, 53111 Bonn, Germany., Van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Damasio J; Neurology Department, Hospital de Santo António, Centro Hospitalar Universitário de Santo António, 4099-001 Porto, Portugal; CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Fleszar Z; German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Tosi M; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Rocca C; Department of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, WC1N 3BG London, UK., De Michele G; Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy., Minnerop M; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, 52428 Jülich, Germany; Institute of Clinical Neuroscience and Medical Psychology and Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty & University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany., Ewenczyk C; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Santorelli FM; Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, 56128 Calambrone, Italy., Heinzmann A; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Bird T; University of Washington, Seattle, WA 98195, USA., Amprosi M; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Indelicato E; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Benussi A; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy., Charles P; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Stendel C; German Center for Neurodegenerative Disease (DZNE), München, Germany; Department of Neurology, Friedrich-Baur Institute, University Hospital of Ludwig-Maximilians-University, Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany., Romano S; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, S. Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy., Scarlato M; San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy., Le Ber I; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Bassi MT; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Serrano M; Pediatric Neurology Department, Sant Joan de Déu Hospital, 08950 Barcelona, Spain., Schmitz-Hübsch T; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Doss S; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Van Velzen GAJ; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands., Thomas Q; Department of Clinical Genetics, Dijon University Hospital, 21000 Dijon, France., Trabacca A; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Ortigoza-Escobar JD; Pediatric Neurology Department, Sant Joan de Déu Hospital, 08950 Barcelona, Spain., D'Arrigo S; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, 45147 Essen, Germany., Pantaleoni C; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Martinuzzi A; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Besse-Pinot E; Department of Neurology, Clermont-Ferrand University Hospital, 63000 Clermont-Ferrand, France., Marsili L; Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA., Cioffi E; Sapienza University of Rome, Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino, 04100 Latina, Italy., Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Giorgetti A; Computational Biomedicine, Institute for Advanced Simulations IAS-5 and Institute of Neuroscience and Medicine INM-9, Forschungszentrum Jülich GmbH, 52428 Jülich, Germany; Department of Biotechnology, Università degli Studi di Verona, 37134 Verona, Italy., Moroni I; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Romaniello R; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Casali C; Sapienza University of Rome, Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino, 04100 Latina, Italy., Ponger P; Neurology Department, Tel-Aviv Sourasky Medical Center, 6329302 Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel., Casari G; San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy., De Bot ST; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands., Ristori G; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, S. Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy., Blumkin L; Sackler School of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Wolfson Medical Center, 5822012 Holon, Israel., Borroni B; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy., Goizet C; University Bordeaux, Equipe « Neurogénétique Translationnelle - NRGEN », INCIA CNRS UMR5287 Université Bordeaux and Centre de Reference Maladies Rares « Neurogénétique », Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), 33000 Bordeaux, France., Marelli C; MMDN, University Montpellier, EPHE, INSERM and Expert Center for Neurogenetic Diseases, CHU, 34095 Montpellier, France., Boesch S; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Anheim M; Department of Neurology, Strasbourg University Hospital, 67098 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964; CNRS-UMR7104; University of Strasbourg, 67400 Illkirch-Graffenstaden, France., Filla A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy., Houlden H; Department of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, WC1N 3BG London, UK., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Klopstock T; German Center for Neurodegenerative Disease (DZNE), München, Germany; Department of Neurology, Friedrich-Baur Institute, University Hospital of Ludwig-Maximilians-University, Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany., Synofzik M; German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Riant F; Department of Neurovascular Molecular Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, 75010 Paris, France., Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Magri S; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Di Bella D; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Nanetti L; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Sequeiros J; CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Oliveira J; CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Schöls L; German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Taroni F; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Brice A; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Durr A; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France. Electronic address: alexandra.durr@icm-institute.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Jul 06; Vol. 110 (7), pp. 1098-1109. Date of Electronic Publication: 2023 Jun 09.

Health-related quality of life in 975 patients with complex regional pain syndrome type 1.

Autor: van Velzen GAJ; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands Knowledge Consortium TREND, Leiden, The Netherlands Department of Anaesthesiology, VU University Medical Centre, Amsterdam, The Netherlands Institute for Extramural Medicine (EMGO), Amsterdam, The Netherlands Department of Medical Statistics and BioInformatics, Leiden University Medical Centre, Leiden, The Netherlands Department of Anaesthesiology, Erasmus Medical Center, Rotterdam, The Netherlands Department of Anaesthesiology, Maastricht University Medical Center, Maastricht, The Netherlands Department of Anaesthesiology, Sint Elisabeth Hospital, Tilburg, The Netherlands Department of Anaesthesiology, Leiden University Medical Center, Leiden, The Netherlands., Perez RSGM, van Gestel MA, Huygen FJPM, van Kleef M, van Eijs F, Dahan A, van Hilten JJ, Marinus J

Publikováno v: Pain [Pain] 2014 Mar; Vol. 155 (3), pp. 629-634. Date of Electronic Publication: 2013 Dec 14.