Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
Heilig, Roland, Dürr, Alexandra, Brottier, Philippe, Fontaine, Bertrand, Weissenbach, Jean, Burgunder, Jean-Marc, Paternotte, Caroline, Fonknechten, Nùria, Samson, Delphine, Cruaud, Corinne, Wincker, Patrick, Davoine, Claire-Sophie, Brice, Alexis, Hazan, Jamilé, Cattolico, Laurence, Mavel, Delphine, Artiguenave, François, Barbe, Valérie, Prud'homme, Jean-François
Published in Nature genetics (01.11.1999)
Published in Nature genetics (01.11.1999)
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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
FONKNECHTEN, N, MAVEL, D, BURGUNDER, J.-M, TARTAGLIONE, A, HEINZLEF, O, FEKI, I, DEUFEL, T, PARFREY, N, BRICE, A, FONTAINE, B, PRUD'HOMME, J.-F, WEISSENBACH, J, BYRNE, P, DÜRR, A, HAZAN, J, DAVOINE, C.-S, CRUAUD, C, BOENTSCH, D, SAMSON, D, COUTINHO, P, HUTCHINSON, M, MCMONAGLE, P
Published in Human molecular genetics (01.03.2000)
Published in Human molecular genetics (01.03.2000)
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Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
Dürr, A., Davoine, C.-S., Paternotte, C., von Fellenberg, J., Cogilnicean, S., Coutinho, P., Lamy, C., Bourgeois, S., Prud'homme, J.-F., Penet, C., Mas, J.-L., Burgunder, J.-M., Hazan, J., Weissenbach, J., Brice, A., Fontaine, B.
Published in Brain (London, England : 1878) (01.10.1996)
Published in Brain (London, England : 1878) (01.10.1996)
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A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34
Fontaine, Bertrand, Davoine, Claire-Sophie, Dürr, Alexandra, Paternotte, Caroline, Feki, Imed, Weissenbach, Jean, Hazan, Jamilé, Brice, Alexis
Published in American journal of human genetics (01.02.2000)
Published in American journal of human genetics (01.02.2000)
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Periodic paralysis and voltage-gated ion channels
Fontaine, Bertrand, Lapie, Pascale, Plassart, Emmanuelle, Tabti, Nacira, Nicole, Sophie, Reboul, Jocelyne, Rime-Davoine, Claire-Sophie
Published in Kidney international (01.01.1996)
Published in Kidney international (01.01.1996)
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No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24
Zander, C, Yuan, Q.-P, Lindblad, K, Stevanin, G, Dürr, A, Davoine, C.-S, Hazan, J, Fontaine, B, Brice, A, Schalling, M
Published in Neuroscience letters (21.01.2000)
Published in Neuroscience letters (21.01.2000)
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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Hammouda, Hadi, Nicole, Sophie, Topaloglu, Haluk, Weissenbach, Jean, Lehmann-Horn, Franck, Samson, Delphine, Cruaud, Corinne, Hentati, Faycal, Davoine, Claire-Sophie, Beighton, Peter, Barral, Duarte, Fontaine, Bertrand, Urtizberea, J. Andoni, White, Peter S, Cattolico, Laurence, Hamida, Christiane Ben
Published in Nature genetics (01.12.2000)
Published in Nature genetics (01.12.2000)
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Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
Paternotte, C, Rudnicki, D, Fizames, C, Davoine, C S, Mavel, D, Dürr, A, Samson, D, Marquette, C, Muselet, D, Vega-Czarny, N, Drouot, N, Voit, T, Fontaine, B, Gyapay, G, Auburger, G, Weissenbach, J, Hazan, J
Published in Genome research (01.11.1998)
Published in Genome research (01.11.1998)
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A Fine Integrated Map of the SPG4 Locus Excludes an Expanded CAG Repeat in Chromosome 2p-Linked Autosomal Dominant Spastic Paraplegia
Hazan, Jamilé, Davoine, Claire-Sophie, Mavel, Delphine, Fonknechten, Nùria, Paternotte, Caroline, Fizames, Cécile, Cruaud, Corinne, Samson, Delphine, Muselet, Delphine, Vega-Czarny, Nathalie, Brice, Alexis, Gyapay, Gabor, Heilig, Roland, Fontaine, Bertrand, Weissenbach, Jean
Published in Genomics (San Diego, Calif.) (15.09.1999)
Published in Genomics (San Diego, Calif.) (15.09.1999)
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
Panagiotakaki, Eleni, De Grandis, Elisa, Stagnaro, Michela, Heinzen, Erin L, Fons, Carmen, Sisodiya, Sanjay, de Vries, Boukje, Goubau, Christophe, Weckhuysen, Sarah, Kemlink, David, Scheffer, Ingrid, Lesca, Gaëtan, Rabilloud, Muriel, Klich, Amna, Ramirez-Camacho, Alia, Ulate-Campos, Adriana, Campistol, Jaume, Giannotta, Melania, Moutard, Marie-Laure, Doummar, Diane, Hubsch-Bonneaud, Cecile, Jaffer, Fatima, Cross, Helen, Gurrieri, Fiorella, Tiziano, Danilo, Nevsimalova, Sona, Nicole, Sophie, Neville, Brian, van den Maagdenberg, Arn M J M, Mikati, Mohamad, Goldstein, David B, Vavassori, Rosaria, Arzimanoglou, Alexis
Published in Orphanet journal of rare diseases (26.09.2015)
Published in Orphanet journal of rare diseases (26.09.2015)
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Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60
Hansen, Jens Jacob, Dürr, Alexandra, Cournu-Rebeix, Isabelle, Georgopoulos, Costa, Ang, Debbie, Nielsen, Marit Nyholm, Davoine, Claire-Sophie, Brice, Alexis, Fontaine, Bertrand, Gregersen, Niels, Bross, Peter
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans
Bouhours, Magali, Sternberg, Damien, Davoine, Claire‐Sophie, Xavier, Ferrer, Willer, Jean Claude, Fontaine, Bertrand, Tabti, Nacira
Published in The Journal of physiology (01.02.2004)
Published in The Journal of physiology (01.02.2004)
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Journal Article
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Nicole, S, Davoine, C-S, Topaloglu, H, Cattolico, L, Barral, D, Beighton, P, Ben Hamida, C, Hammouda, H, Cruaud, C, White, P S, Samson, D, Urtizberea, JA, Lehmann-Horn, F, Weissenbach, J, Hentati, F, Fontaine, B
Published in Nature genetics (01.12.2000)
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Published in Nature genetics (01.12.2000)
Journal Article
No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24
Zander, C, Yuan, Q-P, Lindblad, K, Stevanin, G, Duerr, A, Davoine, C-S, Hazan, J, Fontaine, B, Brice, A, Schalling, M
Published in Neuroscience letters (01.01.2000)
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Published in Neuroscience letters (01.01.2000)
Journal Article
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
Fonknechten, Nùria, Mavel, Delphine, Byrne, Paula, Davoine, Claire-Sophie, Cruaud, Corinne, Bönsch, Dominikus, Samson, Delphine, Coutinho, Paula, Hutchinson, Michael, McMonagle, Paul, Burgunder, Jean-Marc, Tartaglione, Antonio, Heinzlef, Olivier, Feki, Imed, Deufel, Thomas, Parfrey, Nollaig, Brice, Alexis, Fontaine, Bertrand, Prud'homme, Jean-François, Weissenbach, Jean, Dürr, Alexandra, Hazan, Jamilé
Published in Human molecular genetics (01.02.2005)
Published in Human molecular genetics (01.02.2005)
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