Zobrazeno 1 - 4
of 4
pro vyhledávání: '"genetics [ATPases Associated with Diverse Cellular Activities]"'
Autor:
Cunha, Paulina, Petit, Emilien, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M, Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Coutelier, Marie, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A J, Coarelli, Giulia, Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Mariotti, Caterina, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T, Ristori, Giovanni, Blumkin, Lubov, Faber, Jennifer, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Van Gaalen, Judith, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Damasio, Joana, Brice, Alexis, Durr, Alexandra, Fleszar, Zofia, Tosi, Michele
Publikováno v:
The American journal of human genetics 110(7), 1098-1109 (2023). doi:10.1016/j.ajhg.2023.05.009
Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype correlations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10678::28de79a45a0fd87372cd9d29c5464298
Autor:
Maria Lucia Valentino, Stefania Magri, Matthis Synofzik, Lorenzo Peverelli, Mingyan Fang, Alessia Nasca, Piero Barboni, Andrea Legati, Anna Ardissone, Stefania Bianchi Marzoli, Francesca Tagliavini, Eleonora Lamantea, Silvia Baratta, Daniele Ghezzi, Costanza Lamperti, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Mariantonietta Capristo, Gabriella Cammarata, Leonardo Caporali, Francesca Balistreri, Valentina Del Dotto, Davide Pareyson, Massimo Zeviani, L Melzi, Ludger Schöls, Michele Carbonelli, Franco Taroni, Maria Lucia Cascavilla, Alessandra Maresca
Publikováno v:
Annals of Neurology
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723
Objective Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. Methods We screened 286
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c2c378c78c80511b96cd807a4395b2
https://doi.org/10.1002/ana.25723
https://doi.org/10.1002/ana.25723
Autor:
Thomas Meitinger, Sarah L. Stenton, Thomas Klopstock, Holger Prokisch, Matias Wagner, Konrad Oexle, Tim M. Strom, Jing Tan, Saskia B. Wortmann
Publikováno v:
EBioMedicine 54, 102730 (2020). doi:10.1016/j.ebiom.2020.102730
EBioMedicine
EBioMedicine 54:102730 (2020)
EBioMedicine, Vol 54, Iss, Pp-(2020)
EBioMedicine
EBioMedicine 54:102730 (2020)
EBioMedicine, Vol 54, Iss, Pp-(2020)
Background: Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as referral and ascertainment biases render phenotype-based prevalence estimat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b42b4eaf87e887a5684354e2c11d099
https://pub.dzne.de/record/151525
https://pub.dzne.de/record/151525
Autor:
Ludger Schöls, Isabelle Migeotte, Claire Sophie Davoine, Mélanie Papin, Pegah Masrori, Bart P.C. van de Warrenburg, Rebecca Schüle, Mathieu Anheim, Marc D'Hooghe, Elisabeth Ollagnon-Roman, Charles Duyckaerts, Claire Ewenczyk, Andrea Martinuzzi, Jonathan Baets, Marie Lorraine Monin, Giulia Coarelli, T Deconinck, Maria Grazia D'Angelo, Sophie Tezenas du Montcel, Alexis Brice, Thomas Klockgether, Delia Kurzwelly, Fanny Mochel, Perrine Charles, Peter De Jonghe, Elisa E.G. Hamer, Matthis Synofzik, B. Fontaine, Maria Teresa Bassi, Christoph Kamm, Danielle Seilhean, Giovanni Stevanin, Thomas Klopstock, Jan De Bleecker, Alexandra Durr, Guillaume Banneau
Publikováno v:
Neurology
Neurology, 92, e2679-e2690
Neurology, American Academy of Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩
Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606
Neurology, 92, 23, pp. e2679-e2690
Neurology, 92 (23
Neurology, 92, e2679-e2690
Neurology, American Academy of Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩
Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606
Neurology, 92, 23, pp. e2679-e2690
Neurology, 92 (23
Objective: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7). Methods: We analyzed clinical and genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad13a0fe5a53812528a1024662571ae0
https://hdl.handle.net/10067/1619380151162165141
https://hdl.handle.net/10067/1619380151162165141