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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration 2024 . Ferreira, Mónica \| Schaprian, Tamara \| Kügler, David \| Reuter, Martin \| Deike-Hoffmann, Katharina \| Timmann, Dagmar \| Ernst, Thomas M. \| Giunti, Paola \| Garcia-Moreno, Hector \| van de Warrenburg, Bart \| van Gaalen, Judith \| de Vries, Jeroen \| Jacobi, Heike \| Steiner, Katharina Marie \| Öz, Gülin \| Joers, James M. \| Onyike, Chiadi \| Povazan, Michal \| Reetz, Kathrin \| Romanzetti, Sandro \| Klockgether, Thomas \| Faber, Jennifer	2024		http://purl.org/ontology/bibo/Article
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3 2024 . , Tim Lukas Elter \| Sturm, Daniel \| Santana, Magda \| Schaprian, Tamara \| Raposo, Mafalda \| Vieira Melo, Ana Rosa \| Lima, Manuela \| Koyak, Berkan \| Oender, Demet \| Grobe-Einsler, Marcus \| Lopes, Sara \| Silva, Patrick \| Pereira de Almeida, Luis \| Giunti, Paola \| Garcia-Moreno, Hector \| Nethisinhe, Suran \| de Vries, Jeroen \| van de Warrenburg, Bart P. \| van Gaalen, Judith \| Synofzik, Matthis \| Schöls, Ludger \| Reetz, Kathrin \| Erdlenbruch, Friedrich \| Jacobi, Heike \| Infante, Jon \| Riess, Olaf \| Klockgether, Thomas \| ESMI study group \| Timmann, Dagmar \| Thieme, Andreas \| Faber, Jennifer \| Hübener-Schmid, Jeannette	2024		http://purl.org/ontology/bibo/Article
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 2024 . Demidov, German \| Laurie, Steven \| Torella, Annalaura \| PILUSO, Giulio \| Scala, Marcello \| Morleo, Manuela \| Nigro, Vincenzo \| Graessner, Holm \| Banka, Siddharth \| Solve-RD consortium \| Macaya, Alfons \| Pérez-Dueñas, Belén \| Jackson, Adam \| Stevanin, Giovanni \| de Sainte Agathe, Jean-Madeleine \| Havlovicová, Markéta \| Horvath, Rita \| Pinelli, Michele \| van Os, Nienke J. H. \| van de Warrenburg, Bart P. C. \| Denommé-Pichon, Anne-Sophie \| Savarese, Marco \| Johari, Mridul \| Dallapiccola, Bruno \| Tartaglia, Marco \| Pauly, Martje G. \| Sommer, Anna Katharina \| Haack, Tobias B. \| Töpf, Ana \| Didier, Lacombe \| Fallerini, Chiara \| Renieri, Alessandra \| Chinnery, Patrick F. \| Natera-de Benito, Daniel \| Nascimento, Andres \| Trimouille, Aurélien \| Munell, Francina \| Marcé-Grau, Anna \| Rabah, Ben Yaou \| Bonne, Gisèle \| Van de Vondel, Liedewei \| Lohmann, Katja \| Ossowski, Stephan	2024		http://purl.org/ontology/bibo/Article
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study 2024 . Scaravilli, Alessandra \| Gabusi, Ilaria \| Mari, Gaia \| Battocchio, Matteo \| Bosticardo, Sara \| Schiavi, Simona \| Bender, Benjamin \| Kessler, Christoph \| Brais, Bernard \| La Piana, Roberta \| van de Warrenburg, Bart P. \| Cosottini, Mirco \| Timmann, Dagmar \| PROSPAX Consortium \| Daducci, Alessandro \| Schüle, Rebecca \| Synofzik, Matthis \| Santorelli, Filippo Maria \| Cocozza, Sirio	2024		http://purl.org/ontology/bibo/Article
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia 2024 . Potashman, Michele \| Rudell, Katja \| Pavisic, Ivanna \| Suminski, Naomi \| Doma, Rinchen \| Heinrich, Maggie \| Abetz-Webb, Linda \| Beiner, Melissa Wolfe \| Kuo, Sheng-Han \| Rosenthal, Liana S. \| Zesiwicz, Theresa \| Fife, Terry D. \| van de Warrenburg, Bart P. \| Ristori, Giovanni \| Synofzik, Matthis \| Perlman, Susan \| Schmahmann, Jeremy D. \| L’Italien, Gilbert	2024		http://purl.org/ontology/bibo/Article
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance 2023 . Klockgether, Thomas \| Synofzik, Matthis \| AGI working group on COAs and Registries \| Alhusaini, Saud \| Anheim, Mathieu \| Antonijevic, Irina \| Ashizawa, Tee \| Bataller, Luis \| Berard, Mélanie \| Bertini, Enrico \| Boesch, Sylvia \| Braga-Neto, Pedro \| Cassou, Emanuel \| Chan, Edwin \| Chuang, Rosalind \| Collins, Abbie \| Damásio, Joana \| Donis, Karina \| Duquette, Antoine \| Durães, João \| Durr, Alexandra \| Evans, Rebecca \| Faber, Jennifer \| Farmer, Jennifer \| Gennarino, Vincenzo \| Graessner, Holm \| Grobe-Einsler, Marcus \| Hanagasie, Hasmet \| Heidari, Morteza \| Houlden, Henry \| Indelicato, Elisabetta \| Ishikawa, Kinya \| Jacobi, Heike \| Jardim, Laura \| Kisanuki, Yaz \| Kopishinskaia, Svetlana \| L ́Italien, Gilbert \| Maas, Roderick \| Mancuso, Michelangelo \| Mariotti, Caterina \| Ibrahim, Norlinah Mohamed \| Nachbauer, Wolfgang \| Nemeth, Andrea \| Ng, Yi Shiau \| Obieglo, Katja \| Onodera, Osamu \| Opal, Puneet \| de Almeida, Luis Pereira \| Perlman, Susan \| Primiano, Guido \| Renaud, Mathilde \| Rosenthal, Liana \| Saccà, Francesco \| Sattar, Zahid \| Schmitz-Hübsch, Tanja \| Schöls, Ludger \| Schüle, Rebecca \| Seeberger, Lauren \| Silvestri, Gabriella \| Sobanska, Anna \| Soong, Bin-Weng \| Srivastava, Achal Kumar \| Stoyas, Colleen \| du Montcel, Sophie Tezenas \| Thieme, Andreas \| Timmann, Dagmar \| Tocoian, Adina \| Traschütz, Andreas \| van de Warrenburg, Bart \| Ziegler, Wolfram	2023		http://purl.org/ontology/bibo/Article
Perceptual and Acoustic Analysis of Speech in Spinocerebellar ataxia Type 1 2023 . van Prooije, Teije \| Knuijt, Simone \| Oostveen, Judith \| Kapteijns, Kirsten \| Vogel, Adam \| van de Warrenburg, Bart	2023		http://purl.org/ontology/bibo/Article
Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors 2023 . Hengel, Holger \| Martus, Peter \| Faber, Jennifer \| Giunti, Paola \| Garcia-Moreno, Hector \| Solanky, Nita \| Klockgether, Thomas \| Reetz, Kathrin \| van de Warrenburg, Bart P. \| Santana, Magda M. \| Silva, Patrick \| Cunha, Inês \| de Almeida, Luís Pereira \| Timmann, Dagmar \| Infante, Jon \| de Vries, Jeroen \| Lima, Manuela \| Pires, Paula \| Bushara, Khalaf \| Jacobi, Heike \| Onyike, Chiadi \| Schmahmann, Jeremy D. \| Hübener-Schmid, Jeannette \| Synofzik, Matthis \| European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group \| Schöls, Ludger	2023		http://purl.org/ontology/bibo/Article
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L 2023 . Buchholz, Maresa \| Weber, Niklas \| Rädke, Anika \| Faber, Jennifer \| Schmitz-Hübsch, Tanja \| Jacobi, Heike \| Xie, Feng \| Klockgether, Thomas \| Michalowsky, Bernhard \| The EUROSCA study group \| du Montcel, Sophie Tezenas \| Bauer, Peter \| Giunti, Paola \| Cook, Arron \| Labrum, Robyn \| Parkinson, Michael H. \| Durr, Alexandra \| Brice, Alexis \| Charles, Perrine \| Marelli, Cecilia \| Mariotti, Caterina \| Nanetti, Lorenzo \| Panzeri, Marta \| Rakowicz, Maria \| Sulek, Anna \| Sobanska, Anna \| Schöls, Ludger \| Hengel, Holger \| Baliko, Laszlo \| Melegh, Bela \| Filla, Alessandro \| Antenora, Antonella \| Infante, Jon \| Berciano, José \| van de Warrenburg, Bart P. \| Timmann, Dagmar \| Szymanski, Sandra \| Boesch, Sylvia \| Kang, Jun-Suk \| Pandolfo, Massimo \| Schulz, Jörg B. \| Molho, Sonia \| Diallo, Alhassane \| The ESMI study group \| Hübener-Schmid, Jeanette \| Santana, Magda \| Grobe-Einsler, Marcus \| Koyak, Berkan \| Raposo, Mafalda \| Lima, Manuela \| Garcia-Moreno, Hector \| Giunti, Paola \| de Almeida, Luís Pereira \| van de Warrenburg, Bart \| van Gaalen, Judith \| Timmann, Dagmar \| Thieme, Andreas \| Reetz, Kathrin \| Dogan, Imis \| Wilke, Carlo \| Schöls, Ludger \| Riess, Olaf \| Synofzik, Matthis \| de Vries, Jeroen \| Infante, Jon \| Gulin, Oz \| Joers, James \| Onyike, Chiadikaobi \| Povazan, Michal \| Ratai, Eva-Maria \| Schmahmann, Jeremy	2023		http://purl.org/ontology/bibo/Article
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 2021 . Vissers, Lisenka \| Schüle, Rebecca \| Synofzik, Matthis \| Töpf, Ana \| Gilissen, Christian \| Ossowski, Stephan \| 't Hoen, Peter \| Schulze-Hentrich, Julia M. \| Riess, Olaf \| Brunner, Han G. \| Brookes, Anthony \| Rath, Ana \| Bonne, Gisèle \| hoogerbrugge, nicoline \| Evangelista, Teresinha \| Harmuth, Tina \| Swertz, Morris \| Spalding, John Dylan \| Hoischen, Alexander \| Graessner, Holm \| Haack, Tobias B. \| Zurek, Birte \| Ellwanger, Kornelia \| Demidov, German \| Sturm, Marc \| Kessler, Christoph \| Wayand, Melanie \| Wilke, Carlo \| Traschütz, Andreas \| Schöls, Ludger \| Hengel, Holger \| Heutink, Peter \| Brunner, Han \| Scheffer, Hans \| Steyaert, Wouter \| Sablauskas, Karolis \| de Voer, Richarda M. \| Kamsteeg, Erik-Jan \| van de Warrenburg, Bart \| van Os, Nienke \| te Paske, Iris \| Janssen, Erik \| de Boer, Elke \| Steehouwer, Marloes \| Yaldiz, Burcu \| Kleefstra, Tjitske \| Veal, Colin \| Gibson, Spencer \| Wadsley, Marc \| Mehtarizadeh, Mehdi \| Riaz, Umar \| Warren, Greg \| Dizjikan, Farid Yavari \| Shorter, Thomas \| Straub, Volker \| Bettolo, Chiara Marini \| Specht, Sabine \| Clayton-Smith, Jill \| Banka, Siddharth \| Alexander, Elizabeth \| Jackson, Adam \| Faivre, Laurence \| Thauvin, Christel \| Vitobello, Antonio \| Denommé-Pichon, Anne-Sophie \| Duffourd, Yannis \| Tisserant, Emilie \| Bruel, Ange-Line \| Peyron, Christine \| Pélissier, Aurore \| Beltran, Sergi \| Gut, Ivo Glynne \| Laurie, Steven \| Piscia, Davide \| Matalonga, Leslie \| Papakonstantinou, Anastasios \| Bullich, Gemma \| Corvo, Alberto \| Garcia, Carles \| Fernandez-Callejo, Marcos \| Hernández, Carles \| Picó, Daniel \| Paramonov, Ida \| Gumus, Gulcin \| Bros-Facer, Virginie \| Hanauer, Marc \| Olry, Annie \| Lagorce, David \| Havrylenko, Svitlana \| Izem, Katia \| Rigour, Fanny \| Stevanin, Giovanni \| Durr, Alexandra \| Davoine, Claire-Sophie \| Guillot-Noel, Léna \| Heinzmann, Anna \| Coarelli, Giulia \| Allamand, Valérie \| Nelson, Isabelle \| Yaou, Rabah Ben \| Metay, Corinne \| Eymard, Bruno \| Cohen, Enzo \| Atalaia, Antonio \| Stojkovic, Tanya \| Macek, Milan \| Turnovec, Marek \| Thomasová, Dana \| Kremliková, Radka Pourová \| Franková, Vera \| Havlovicová, Markéta \| Kremlik, Vlastimil \| Parkinson, Helen \| Keane, Thomas \| Senf, Alexander \| Robinson, Peter \| Danis, Daniel \| Robert, Glenn \| Costa, Alessia \| Patch, Christine \| Hanna, Mike \| Houlden, Henry \| Reilly, Mary \| Vandrovcova, Jana \| Muntoni, Francesco \| Zaharieva, Irina \| Sarkozy, Anna \| Timmerman, Vincent \| Baets, Jonathan \| Van de Vondel, Liedewei \| Beijer, Danique \| de Jonghe, Peter \| Nigro, Vincenzo \| Banfi, Sandro \| Torella, Annalaura \| Musacchia, Francesco \| Piluso, Giulio \| Ferlini, Alessandra \| Selvatici, Rita \| Rossi, Rachele \| Neri, Marcella \| Aretz, Stefan \| Spier, Isabel \| Sommer, Anna Katharina \| Peters, Sophia \| Oliveira, Carla \| Pelaez, Jose Garcia \| Matos, Ana Rita \| José, Celina São \| Ferreira, Marta \| Gullo, Irene \| Fernandes, Susana \| Garrido, Luzia \| Ferreira, Pedro \| Carneiro, Fátima \| Swertz, Morris A. \| Johansson, Lennart \| van der Velde, Joeri K. \| van der Vries, Gerben \| Neerincx, Pieter B. \| Roelofs-Prins, Dieuwke \| Köhler, Sebastian \| Metcalfe, Alison \| Verloes, Alain \| Drunat, Séverine \| Rooryck, Caroline \| Trimouille, Aurelien \| Castello, Raffaele \| Morleo, Manuela \| Pinelli, Michele \| Varavallo, Alessandra \| De la Paz, Manuel Posada \| Sánchez, Eva Bermejo \| Martín, Estrella López \| Delgado, Beatriz Martínez \| de la Rosa, F. Javier Alonso García \| Ciolfi, Andrea \| Dallapiccola, Bruno \| Pizzi, Simone \| Radio, Francesca Clementina \| Tartaglia, Marco \| Renieri, Alessandra \| Benetti, Elisa \| Balicza, Peter \| Molnar, Maria Judit \| Maver, Ales \| Peterlin, Borut \| Münchau, Alexander \| Lohmann, Katja \| Herzog, Rebecca \| Pauly, Martje \| Macaya, Alfons \| Marcé-Grau, Anna \| Osorio, Andres Nascimiento \| de Benito, Daniel Natera \| Lochmüller, Hanns \| Thompson, Rachel \| Polavarapu, Kiran \| Beeson, David \| Cossins, Judith \| Cruz, Pedro M. Rodriguez \| Hackman, Peter \| Johari, Mridul \| Savarese, Marco \| Udd, Bjarne \| Horvath, Rita \| Capella, Gabriel \| Valle, Laura \| Holinski-Feder, Elke \| Laner, Andreas \| Steinke-Lange, Verena \| Schröck, Evelin \| Rump, Andreas	2021		http://purl.org/ontology/bibo/Article

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