Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

by Tesson, Christelle, Koht, Jeanette, Stevanin, Giovanni
Published 2015

Requirement for Zebrafish Ataxin-7 in Differentiation of Photoreceptors and Cerebellar Neurons

by Yanicostas, Constantin, Barbieri, Elisa, Hibi, Masahiko, Brice, Alexis, Stevanin, Giovanni, Soussi-Yanicostas, Nadia
Published 2012

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

by Alves, Sandro, Marais, Thibaut, Biferi, Maria-Grazia, Furling, Denis, Marinello, Martina, El Hachimi, Khalid, Cartier, Nathalie, Ruberg, Merle, Stevanin, Giovanni, Brice, Alexis, Barkats, Martine, Sittler, Annie
Published 2016

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

by Jahic, Amir, Khundadze, Mukhran, Jaenisch, Nadine, Schüle, Rebecca, Klimpe, Sven, Klebe, Stephan, Frahm, Christiane, Kassubek, Jan, Stevanin, Giovanni, Schöls, Ludger, Brice, Alexis, Hübner, Christian A., Beetz, Christian
Published 2015

Survival and severity in dominant cerebellar ataxias

by Monin, Marie-Lorraine, Tezenas du Montcel, Sophie, Marelli, Cecilia, Cazeneuve, Cecile, Charles, Perrine, Tallaksen, Chantal, Forlani, Sylvie, Stevanin, Giovanni, Brice, Alexis, Durr, Alexandra
Published 2015

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

by Dorboz, Imen, Coutelier, Marie, Bertrand, Anne T, Caberg, Jean-Hubert, Elmaleh-Bergès, Monique, Lainé, Jeanne, Stevanin, Giovanni, Bonne, Gisèle, Boespflug-Tanguy, Odile, Servais, Laurent
Published 2014

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

by Hirst, Jennifer, Edgar, James R., Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H., Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C., Robinson, Margaret S.
Published 2015

Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

by Mamaï, Ons, Boussofara, Lobna, Denguezli, Mohamed, Escande-Beillard, Nathalie, Kraeim, Wahiba, Merriman, Barry, Ben Charfeddine, Ilhem, Stevanin, Giovanni, Bouraoui, Sana, Amara, Abdelbasset, Mili, Amira, Nouira, Rafiaa, H'mida, Dorra, Sriha, Badreddine, Gribaa, Moez, Saad, Ali, Reversade, Bruno
Published 2015

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

by Mancini, Cecilia, Roncaglia, Paola, Brussino, Alessandro, Stevanin, Giovanni, Lo Buono, Nicola, Krmac, Helena, Maltecca, Francesca, Gazzano, Elena, Bartoletti Stella, Anna, Calvaruso, Maria Antonietta, Iommarini, Luisa, Cagnoli, Claudia, Forlani, Sylvie, Le Ber, Isabelle, Durr, Alexandra, Brice, Alexis, Ghigo, Dario, Casari, Giorgio, Porcelli, Anna Maria, Funaro, Ada, Gasparre, Giuseppe, Gustincich, Stefano, Brusco, Alfredo
Published 2013

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

by Salih, Mustafa A., Mundwiller, Emeline, Khan, Arif O., AlDrees, Abdulmajeed, Elmalik, Salah A., Hassan, Hamdy H., Al-Owain, Mohammed, Alkhalidi, Hisham M. S., Katona, Istvan, Kabiraj, Mohammad M., Chrast, Roman, Kentab, Amal Y., Alzaidan, Hamad, Rodenburg, Richard J., Bosley, Thomas M., Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid
Published 2013

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

by Salih, Mustafa A., Mundwiller, Emeline, Khan, Arif O., AlDrees, Abdulmajeed, Elmalik, Salah A., Hassan, Hamdy H., Al-Owain, Mohammed, Alkhalidi, Hisham M. S., Katona, Istvan, Kabiraj, Mohammad M., Chrast, Roman, Kentab, Amal Y., Alzaidan, Hamad, Rodenburg, Richard J., Bosley, Thomas M., Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid
Published 2013

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

by Bettencourt, Conceição, Hensman‐Moss, Davina, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas‐Gómez, Petra, García‐Velázquez, Lizbeth Esmeralda, Alonso‐Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah J., Jones, Lesley
Published 2016

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

by Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis
Published 2014