A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia by 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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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 by 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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Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population by 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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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 by 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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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration by 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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A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia: e1000408 by 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 by Denora, Paola S., Brockmann, Knut, Ciccolella, Marianna, Truchetto, Jeremy, Stevanin, Giovanni, Santorelli, Filippo M.

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

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