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6 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
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