Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

Por Darios, Frédéric, Stevanin, Giovanni
Publicado no J Mol Biol (2020)

The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives

Por Yahia, Ashraf, Stevanin, Giovanni
Publicado no Front Genet (2021)

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

Por Tesson, Christelle, Koht, Jeanette, Stevanin, Giovanni
Publicado no Hum Genet (2015)

Lipids in the Physiopathology of Hereditary Spastic Paraplegias

Por Darios, Frédéric, Mochel, Fanny, Stevanin, Giovanni
Publicado no Front Neurosci (2020)

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

Por Yanicostas, Constantin, Barbieri, Elisa, Hibi, Masahiko, Brice, Alexis, Stevanin, Giovanni, Soussi-Yanicostas, Nadia
Publicado em 2012

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

Por Stevanin, Giovanni, Cassa, Eloy, Cancel, Géraldine, Abbas, Nacer, Dürr, Alexandra, Jardim, Edymar, Agid, Yves, Sousa, Patricia S, Brice, Alexis
Publicado em 1995

Marked Phenotypic Heterogeneity Associated with Expansion of a CAG Repeat Sequence at the Spinocerebellar Ataxia 3/Machado-Joseph Disease Locus

Por Cancel, Géraldine, Abbas, Nacer, Stevanin, Giovanni, Dürr, Alexandra, Chneiweiss, Hervé, Néri, Christian, Duyckaerts, Charles, Penet, Christiane, Cann, Howard M., Agid, Yves, Brice, Alexis
Publicado em 1995

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

Por Dorboz, Imen, Coutelier, Marie, Bertrand, Anne T, Caberg, Jean-Hubert, Elmaleh-Bergès, Monique, Lainé, Jeanne, Stevanin, Giovanni, Bonne, Gisèle, Boespflug-Tanguy, Odile, Servais, Laurent
Publicado no Orphanet J Rare Dis (2014)

Survival and severity in dominant cerebellar ataxias

Por Monin, Marie-Lorraine, Tezenas du Montcel, Sophie, Marelli, Cecilia, Cazeneuve, Cecile, Charles, Perrine, Tallaksen, Chantal, Forlani, Sylvie, Stevanin, Giovanni, Brice, Alexis, Durr, Alexandra
Publicado no Ann Clin Transl Neurol (2015)

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

Por Morais, Sara, Raymond, Laure, Mairey, Mathilde, Coutinho, Paula, Brandão, Eva, Ribeiro, Paula, Loureiro, José Leal, Sequeiros, Jorge, Brice, Alexis, Alonso, Isabel, Stevanin, Giovanni
Publicado no Eur J Hum Genet (2017)

Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

Por Boutry, Maxime, Pierga, Alexandre, Matusiak, Raphaël, Branchu, Julien, Houllegatte, Marc, Ibrahim, Yoan, Balse, Elise, El Hachimi, Khalid-Hamid, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric
Publicado no Commun Biol (2019)

Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

Por Herman-Bert, Alexandra, Stevanin, Giovanni, Netter, Jean-Claude, Rascol, Olivier, Brassat, David, Calvas, Patrick, Camuzat, Agnès, Yuan, Qiu-ping, Schalling, Martin, Dürr, Alexandra, Brice, Alexis
Publicado em 2000

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Por Depienne, Christel, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Ribaï, Pascale, Feki, Imed, Tallaksen, Chantal, Nguyen, Karine, Stankoff, Bruno, Ruberg, Merle, Stevanin, Giovanni, Durr, Alexandra, Brice, Alexis
Publicado em 2007

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

Por Lorenz, Delia, Klebe, Stephan, Stevanin, Giovanni, Thier, Sandra, Nebel, Almut, Feingold, Josué, Frederiksen, Henrik, Denis, Elodie, Christensen, Kaare, Schreiber, Stefan, Brice, Alexis, Deuschl, Günther, Dürr, Alexandra
Publicado em 2009

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

Por 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
Publicado no Mol Neurodegener (2016)

A Conditional Pan-Neuronal Drosophila Model of Spinocerebellar Ataxia 7 with a Reversible Adult Phenotype Suitable for Identifying Modifier Genes

Por Latouche, Morwena, Lasbleiz, Christelle, Martin, Elodie, Monnier, Véronique, Debeir, Thomas, Mouatt-Prigent, Annick, Muriel, Marie-Paule, Morel, Lydie, Ruberg, Merle, Brice, Alexis, Stevanin, Giovanni, Tricoire, Hérvé
Publicado no J Neurosci (2007)

Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay

Por Cagnoli, Claudia, Stevanin, Giovanni, Michielotto, Chiara, Gerbino Promis, Giovanni, Brussino, Alessandro, Pappi, Patrizia, Durr, Alexandra, Dragone, Elisa, Viemont, Michelle, Gellera, Cinzia, Brice, Alexis, Migone, Nicola, Brusco, Alfredo
Publicado em 2006

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

Por 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
Publicado no Orphanet J Rare Dis (2015)

KCNC3: Phenotype, mutations, channel biophysics – a study of 260 familial ataxia patients

Por Figueroa, Karla P., Minassian, Natali A., Stevanin, Giovanni, Waters, Michael, Garibyan, Vartan, Forlani, Sylvie, Strzelczyk, Adam, Bűrk, Katrin, Brice, Alexis, Dűrr, Alexandra, Papazian, Diane M., Pulst, Stefan-M
Publicado em 2010

A 7.5Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

Por Johnson, Janel O, Stevanin, Giovanni, van de Leemput, Joyce, Hernandez, Dena G, Arepalli, Sampath, Forlani, Sylvie, Zonozi, Ryan, Gibbs, J. Raphael, Brice, Alexis, Durr, Alexandra, Singleton, Andrew B
Publicado no Mov Disord (2014)