Search Results - "Truchetto, J"

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

“…Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of…”
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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum by Goizet, C, Boukhris, A, Maltete, D, Guyant-Maréchal, L, Truchetto, J, Mundwiller, E, Hanein, S, Jonveaux, P, Roelens, F, Loureiro, J, Godet, E, Forlani, S, Melki, J, Auer-Grumbach, M, Fernandez, J C, Martin-Hardy, P, Sibon, I, Sole, G, Orignac, I, Mhiri, C, Coutinho, P, Durr, A, Brice, A, Stevanin, G

“…Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene…”
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Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity by Boukhris, A, Stevanin, G, Feki, I, Denora, P, Elleuch, N, Miladi, MI, Goizet, C, Truchetto, J, Belal, S, Brice, A, Mhiri, C

“…Hereditary spastic paraplegias (HSP) constitute a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly…”
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SPG 15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum by GOIZET, C, BOUKHRIS, A, GODET, E, FORLANI, S, MELKI, J, AUER-GRUMBAEH, M, FERNANDEZ, J. C, MARTIN-HARDY, P, SIBON, I, SOLE, G, ORIGNAC, I, MHIRI, C, MALTETE, D, COUTINHO, P, DURR, A, BRICE, A, STEVANIN, G, GUYANT-MARECHAL, L, TRUCHETTO, J, MUNDWILLER, E, HANEIN, S, JONVEAUX, P, ROELENS, F, LOUREIRO, J

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