A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia von Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir B, Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M Teresa, Stevanin, Giovanni, Buchholz, Frank

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Antinociceptive effect of peripheral serotonin 5-HT2B receptor activation on neuropathic pain von Urtikova, Nataliya, Berson, Nadège, Van Steenwinckel, Juliette, Doly, Stéphane, Truchetto, Jérémy, Maroteaux, Luc, Pohl, Michel, Conrath, Marie

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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 von Goizet, Cyril, Boukhris, Amir, Durr, Alexandra, Beetz, Christian, Truchetto, Jeremy, Tesson, Christelle, Tsaousidou, Maria, Forlani, Sylvie, Guyant-Maréchal, Lucie, Fontaine, Bertrand, Guimarães, João, Isidor, Bertrand, Chazouillères, Olivier, Wendum, Dominique, Grid, Djamel, Chevy, Françoise, Chinnery, Patrick F., Coutinho, Paula, Azulay, Jean-Philippe, Feki, Imed, Mochel, Fanny, Wolf, Claude, Mhiri, Chokri, Crosby, Andrew, Brice, Alexis, Stevanin, Giovanni

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A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum von Boukhris, Amir, Feki, Imed, Elleuch, Nizar, Miladi, Mohamed Imed, Boland-Augé, Anne, Truchetto, Jérémy, Mundwiller, Emeline, Jezequel, Nadia, Zelenika, Diana, Mhiri, Chokri, Brice, Alexis, Stevanin, Giovanni

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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration von Stevanin, Giovanni, Azzedine, Hamid, Denora, Paola, Boukhris, Amir, Tazir, Meriem, Lossos, Alexander, Rosa, Alberto Luis, Lerer, Israela, Hamri, Abdelmadjid, Alegria, Paulo, Loureiro, José, Tada, Masayoshi, Hannequin, Didier, Anheim, Mathieu, Goizet, Cyril, Gonzalez-Martinez, Victoria, Le Ber, Isabelle, Forlani, Sylvie, Iwabuchi, Kiyoshi, Meiner, Vardiela, Uyanik, Goekhan, Erichsen, Anne Kjersti, Feki, Imed, Pasquier, Florence, Belarbi, Soreya, Cruz, Vitor T., Depienne, Christel, Truchetto, Jeremy, Garrigues, Guillaume, Tallaksen, Chantal, Tranchant, Christine, Nishizawa, Masatoyo, Vale, José, Coutinho, Paula, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Durr, Alexandra

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Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population von Denora, Paola S, Muglia, Maria, Casali, Carlo, Truchetto, Jérémy, Silvestri, Gabriella, Messina, Demetrio, Boukrhis, Amir, Magariello, Angela, Modoni, Anna, Masciullo, Marcella, Malandrini, Alessandro, Morelli, Maurizio, de Leva, Maria Fulvia, Villanova, Marcello, Giugni, Elisabetta, Citrigno, Luigi, Rizza, Teresa, Federico, Antonio, Pierallini, Alberto, Quattrone, Aldo, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, Santorelli, Filippo M

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Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion von Denora, Paola S, Schlesinger, David, Casali, Carlo, Kok, Fernando, Tessa, Alessandra, Boukhris, Amir, Azzedine, Hamid, Dotti, Maria Teresa, Bruno, Claudio, Truchetto, Jeremy, Biancheri, Roberta, Fedirko, Estelle, Di Rocco, Maja, Bueno, Clarissa, Malandrini, Alessandro, Battini, Roberta, Sickl, Elisabeth, de Leva, Maria Fulvia, Boespflug-Tanguy, Odile, Silvestri, Gabriella, Simonati, Alessandro, Said, Edith, Ferbert, Andreas, Criscuolo, Chiara, Heinimann, Karl, Modoni, Anna, Weber, Peter, Palmeri, Silvia, Plasilova, Martina, Pauri, Flavia, Cassandrini, Denise, Battisti, Carla, Pini, Antonella, Tosetti, Michela, Hauser, Erwin, Masciullo, Marcella, Fabio, Roberto Di, Piccolo, Francesca, Denis, Elodie, Cioni, Giovanni, Massa, Roberto, Giustina, Elvio Della, Calabrese, Olga, Melone, Marina A.B, De Michele, Giuseppe, Federico, Antonio, Bertini, Enrico, Durr, Alexandra, Brockmann, Knut, van der Knaap, Marjo S, Zatz, Mayana, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, Santorelli, Filippo M

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Identification of a de novo mutation in SPG11 von Denora, Paola S., Brockmann, Knut, Ciccolella, Marianna, Truchetto, Jeremy, Stevanin, Giovanni, Santorelli, Filippo M.

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Anti-nociceptive effect of peripheral serotonin 5-HT2B receptor activation on neuropathic pain von Urtikova, Nataliya, Berson, Nadège, van Steenwinckel, Juliette, Doly, Stéphane, Truchetto, Jérémy, Maroteaux, Luc, Pohl, Michel, Conrath, Marie

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Mutations in SPGII are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration von STEVANIN, Giovanni, AZZEDINE, Hamid, LOUREIRO, José, TADA, Masayoshi, HANNEQUIN, Didier, ANHEIM, Mathieu, GOIZET, Cyril, GONZALEZ-MARTINEZ, Victoria, LE BER, Isabelle, FORLANI, Sylvie, IWABUCHI, Kiyoshi, MEINER, Vardiela, DENORA, Paola, UYANIK, Goekhan, KJERSTI ERICHSEN, Anne, FEKI, Imed, PASQUIER, Florence, BELARBI, Soreya, CRUZ, Vitor T, DEPIENNE, Christel, TRUCHETTO, Jeremy, GARRIGUES, Guillaume, TALLAKSEN, Chantal, BOUKHRIS, Amir, TRANCHANT, Christine, NISHIZAWA, Masatoyo, VALE, José, COUTINHO, Paula, SANTORELLI, Filippo M, MHIRI, Chokri, BRICE, Alexis, DURR, Alexandra, TAZIR, Meriem, LOSSOS, Alexander, ROSA, Alberto Luis, LERER, Israela, HAMRI, Abdelmadjid, ALEGRIA, Paulo

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A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia: e1000408 von Slabicki, Mikolaj, Theis, Mirko, Krastev, Dragomir B, Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M Teresa, Stevanin, Giovanni, Buchholz, Frank

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Identification of a de novo mutation in SPG11 von Denora, Paola S, Brockmann, Knut, Ciccolella, Marianna, Truchetto, Jeremy, Stevanin, Giovanni, Santorelli, Filippo M

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