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Zeitschriftenartikel
Schiava, Marianela 
ORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID: https://orcid.org/0000-0003-2941-7988
(2022):
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111
ORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID: https://orcid.org/0000-0003-2941-7988
(2022):
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111
Ascari, Giulia; Peelman, Frank; Farinelli, Pietro; Rosseel, Toon; Lambrechts, Nina; Wunderlich, Kirsten A.; Wagner, Matias; Nikopoulos, Konstantinos; Martens, Pernille; Balikova, Irina; Derycke, Lara; Holtappels, Gabriele; Krysko, Olga; Laethem, Thalia van; De Jaegere, Sarah; Guillemyn, Brecht; De Rycke, Riet; De Bleecker, Jan; Creytens, David; Dorpe, Jo van; Gerris, Jan; Bachert, Claus; Neuhofer, Christiane; Walraedt, Sophie; Bischoff, Almut; Pedersen, Lotte B.; Klopstock, Thomas; Rivolta, Carlo; Leroy, Bart P.; De Baere, Elfride und Coppieters, Frauke
(2020):
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
In: Human Mutation, Bd. 41, Nr. 5: S. 998-1011
[PDF, 5MB]
Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni und Durr, Alexandra
(2019):
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
In: Neurology, Bd. 92, Nr. 23, E2679-E2690