Update on the Genetics of Spastic Paraplegias von Boutry, Maxime, Morais, Sara, Stevanin, Giovanni

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Lipids in the Physiopathology of Hereditary Spastic Paraplegias von Darios, Frederic, Mochel, Fanny, Stevanin, Giovanni

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The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives von Yahia, Ashraf, Stevanin, Giovanni

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Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration von Branchu, Julien, Boutry, Maxime, Sourd, Laura, Depp, Marine, Leone, Céline, Corriger, Alexandrine, Vallucci, Maeva, Esteves, Typhaine, Matusiak, Raphaël, Dumont, Magali, Muriel, Marie-Paule, Santorelli, Filippo M, Brice, Alexis, El Hachimi, Khalid Hamid, Stevanin, Giovanni, Darios, Frédéric

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

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Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias von Morais, Sara, Raymond, Laure, Mairey, Mathilde, Coutinho, Paula, Brandão, Eva, Ribeiro, Paula, Loureiro, José Leal, Sequeiros, Jorge, Brice, Alexis, Alonso, Isabel, Stevanin, Giovanni

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Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia von Toupenet Marchesi, Liriope, Leblanc, Marion, Stevanin, Giovanni

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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes von DU MONTCEL, Sophie Tezenas, DURR, Alexandra, VAN DE WARRENBURG, Bart P. C, ORSI, Laura, GIUNTI, Paola, FILLA, Alessandro, SZYMANSKI, Sandra, KLOCKGETHER, Thomas, BERCIANO, José, PANDOLFO, Massimo, BOESCH, Sylvia, MELEGH, Bela, BAUER, Peter, TIMMANN, Dagmar, MANDICH, Paola, CAMUZAT, Agnès, GOTO, Jun, ASHIZAWA, Tetsuo, CAZENEUVE, Cécile, TSUJI, Shoji, PULST, Stefan-M, BRUSCO, Alfredo, RIESS, Olaf, FIGUEROA, Karla P, BRICE, Alexis, STEVANIN, Giovanni, ICHIKAWA, Yaeko, BRUSSINO, Alessandro, FORLANI, Sylvie, RAKOWICZ, Maria, SCHÖLS, Ludger, MARIOTTI, Caterina

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Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview von Elsayed, Liena E. O., Eltazi, Isra Zuhair, Ahmed, Ammar E., Stevanin, Giovanni

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Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11 von Hörner, Michaela, Popp, Sandy, Branchu, Julien, Stevanin, Giovanni, Darios, Frédéric, Klebe, Stephan, Groh, Janos, Martini, Rudolf

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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia von Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

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Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice von Fortier, Manon, Cauhapé, Margaux, Buono, Suzie, Becker, Julien, Menuet, Alexia, Branchu, Julien, Ricca, Ivana, Mero, Serena, Dorgham, Karim, El Hachimi, Khalid-Hamid, Dobrenis, Kostantin, Colsch, Benoit, Samaroo, Dominic, Devaux, Morgan, Durr, Alexandra, Stevanin, Giovanni, Santorelli, Filippo M., Colombo, Sophie, Cowling, Belinda, Darios, Frédéric

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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia von Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak, Raphaël, Alonso, Isabel, Tallaksen, Chantal, Mairey, Mathilde, Kennerson, Marina, Gaussen, Marion, Schule, Rebecca, Janin, Maxime, Morice-Picard, Fanny, Durand, Christelle M, Depienne, Christel, Calvas, Patrick, Coutinho, Paula, Saudubray, Jean-Marie, Rouleau, Guy, Brice, Alexis, Nicholson, Garth, Darios, Frédéric, Loureiro, José L, Zuchner, Stephan, Ottolenghi, Chris, Mochel, Fanny, Stevanin, Giovanni

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Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia von Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni

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Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration von Boutry, Maxime, Branchu, Julien, Lustremant, Céline, Pujol, Claire, Pernelle, Julie, Matusiak, Raphaël, Seyer, Alexandre, Poirel, Marion, Chu-Van, Emeline, Pierga, Alexandre, Dobrenis, Kostantin, Puech, Jean-Philippe, Caillaud, Catherine, Durr, Alexandra, Brice, Alexis, Colsch, Benoit, Mochel, Fanny, El Hachimi, Khalid Hamid, Stevanin, Giovanni, Darios, Frédéric

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

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Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans von Wang, Yubin, Hersheson, Joshua, Lopez, Dulce, Hammer, Monia, Liu, Yan, Lee, Ka-Hung, Pinto, Vanessa, Seinfeld, Jeff, Wiethoff, Sarah, Sun, Jiandong, Amouri, Rim, Hentati, Faycal, Baudry, Neema, Tran, Jennifer, Singleton, Andrew B., Coutelier, Marie, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra, Bi, Xiaoning, Houlden, Henry, Baudry, Michel

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Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options von Martinuzzi, Andrea, Blackstone, Craig, O'Kane, Cahir J., Stevanin, Giovanni

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Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis von Teyssou, Elisa, Chartier, Laura, Amador, Maria-Del-Mar, Lam, Roselina, Lautrette, Géraldine, Nicol, Marie, Machat, Selma, Da Barroca, Sandra, Moigneu, Carine, Mairey, Mathilde, Larmonier, Thierry, Saker, Safaa, Dussert, Christelle, Forlani, Sylvie, Fontaine, Bertrand, Seilhean, Danielle, Bohl, Delphine, Boillée, Séverine, Meininger, Vincent, Couratier, Philippe, Salachas, François, Stevanin, Giovanni, Millecamps, Stéphanie

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Mutations in KCND3 cause spinocerebellar ataxia type 22 von Lee, Yi-Chung, Durr, Alexandra, Majczenko, Karen, Huang, Yen-Hua, Liu, Yu-Chao, Lien, Cheng-Chang, Tsai, Pei-Chien, Ichikawa, Yaeko, Goto, Jun, Monin, Marie-Lorraine, Li, Jun Z., Chung, Ming-Yi, Mundwiller, Emeline, Shakkottai, Vikram, Liu, Tze-Tze, Tesson, Christelle, Lu, Yi-Chun, Brice, Alexis, Tsuji, Shoji, Burmeister, Margit, Stevanin, Giovanni, Soong, Bing-Wen

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