Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H
Delague, Valérie, Jacquier, Arnaud, Hamadouche, Tarik, Poitelon, Yannick, Baudot, Cécile, Boccaccio, Irène, Chouery, Eliane, Chaouch, Malika, Kassouri, Nora, Jabbour, Rosette, Grid, Djamel, Mégarbané, André, Haase, Georg, Lévy, Nicolas
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse
De Sandre-Giovannoli, Annachiara, Chaouch, Malika, Kozlov, Serguei, Vallat, Jean-Michel, Tazir, Meriem, Kassouri, Nadia, Szepetowski, Pierre, Hammadouche, Tarik, Vandenberghe, Antoon, Stewart, Colin L., Grid, Djamel, Lévy, Nicolas
Published in American journal of human genetics (01.03.2002)
Published in American journal of human genetics (01.03.2002)
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Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes
Nouioua, Sonia, Hamadouche, Tarik, Funalot, Benoit, Bernard, Rafaëlle, Bellatache, Nora, Bouderba, Radia, Grid, Djamel, Assami, Salima, Benhassine, Traki, Levy, Nicolas, Vallat, Jean-Michel, Tazir, Meriem
Published in Neuromuscular disorders : NMD (01.08.2011)
Published in Neuromuscular disorders : NMD (01.08.2011)
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Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
ELLEUCH, Nizar, BOUSLAM, Naima, BACQ, Delphine, TAZIR, Meriem, ZELENIKA, Diana, ARGOV, Zohar, DURR, Alexandra, YAHYAOUI, Mohamed, BENOMAR, Ali, BRICE, Alexis, STEVANIN, Giovanni, HANEIN, Sylvain, LOSSES, Alexander, HAMRI, Abdelmadjid, KLEBE, Stephan, MEINER, Vardiella, BIROUK, Nezha, LERER, Israela, GRID, Djamel
Published in Neurogenetics (01.11.2007)
Published in Neurogenetics (01.11.2007)
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Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1
Guilbot, A, Ravisé, N, Bouhouche, A, Coullin, P, Birouk, N, Maisonobe, T, Kuntzer, T, Vial, C, Grid, D, Brice, A, LeGuern, E
Published in European journal of human genetics : EJHG (01.12.1999)
Published in European journal of human genetics : EJHG (01.12.1999)
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Mutations in SPG11 , encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Stevanin, Giovanni, Bertini, Enrico, Elleuch, Nizar, Tazir, Meriem, Azzedine, Hamid, Filla, Alessandro, Ruberg, Merle, Lossos, Alexander, Cruz, Vítor T, Grid, Djamel, Tessa, Alessandra, Coutinho, Paula, Loureiro, José L, Santorelli, Filippo M, Denora, Paola S, Durr, Alexandra, Confavreux, Christian, Charles, Perrine, Brice, Alexis, Fontaine, Bertrand, Martin, Elodie, Leguern, Eric, Chomilier, Jacques, Ouvrard-Hernandez, Anne-Marie, Bouslam, Naïma
Published in Nature genetics (01.03.2007)
Published in Nature genetics (01.03.2007)
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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
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
Published in Brain (London, England : 1878) (01.06.2009)
Published in Brain (London, England : 1878) (01.06.2009)
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Phenotypic variability in giant axonal neuropathy
Tazir, Meriem, Nouioua, Sonia, Magy, Laurent, Huehne, Kathrin, Assami, Salima, Urtizberea, Andoni, Grid, Djamel, Hamadouche, Tarik, Rautenstrauss, Bernd, Vallat, Jean-Michel
Published in Neuromuscular disorders : NMD (01.04.2009)
Published in Neuromuscular disorders : NMD (01.04.2009)
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Pantothenate kinase-associated neurodegeneration: Clinical description of 10 patients and identification of new mutations
Assami, Salima, Azzedine, Hamid, Nouioua, Sonia, Mundwiller, Emeline, Mahoui, Soulaiman, Makri, Samira, Djemai, Meriam, Grid, Djamel, Brice, Alexis, Hamadouche, Tarik, Stevanin, Giovanni, Tazir, Meriem
Published in Movement disorders (01.08.2011)
Published in Movement disorders (01.08.2011)
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Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7)
David, Gilles, Dürr, Alexandra, Stevanin, Giovanni, Cancel, Géraldine, Abbas, Nacer, Benomar, Ali, Belal, Samir, Lebre, Anne-Sophie, Abada-Bendib, Myriem, Grid, Djamel, Holmberg, Monica, Yahyaoui, Mohamed, Hentati, Fayçal, Chkili, Taïeb, Agid, Yves, Brice, Alexis
Published in Human molecular genetics (01.02.1998)
Published in Human molecular genetics (01.02.1998)
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Autosomal-recessive charcot-marie-tooth diseases
VALLAT, Jean-Michel, TAZIR, Meriem, MAGDELAINE, Corinne, STURTZ, Franck, GRID, Djamel
Published in Journal of neuropathology and experimental neurology (01.05.2005)
Published in Journal of neuropathology and experimental neurology (01.05.2005)
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Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance
Vallat, Jean-Michel, Magy, Laurent, Lagrange, Emmeline, Sturtz, Franck, Magdelaine, Corinne, Grid, Djamel, Tazir, Mériem
Published in Acta neuropathologica (01.04.2007)
Published in Acta neuropathologica (01.04.2007)
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A Novel Protein Tyrosine Phosphatase Gene Is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (EPM2)
Serratosa, José M., Gómez-Garre, Pilar, Gallardo, Ma Esther, Anta, Berta, de Bernabé, Daniel Beltrán-Valero, Lindhout, Dick, Augustijn, Paul B., Tassinari, Carlo A., Michelucci, Roberto, Malafosse, Alain, Topcu, Meral, Grid, Djamel, Dravet, Charlotte, Berkovic, Samuel F., de Córdoba, Santiago Rodríguez
Published in Human molecular genetics (01.02.1999)
Published in Human molecular genetics (01.02.1999)
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Journal Article
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
Klebe, Stephan, Durr, Alexandra, Bouslam, Naima, Grid, Djamel, Paternotte, Caroline, Depienne, Christel, Hanein, Sylvain, Bouhouche, Ahmed, Elleuch, Nizar, Azzedine, Hamid, Poea-Guyon, Sandrine, Forlani, Sylvie, Denis, Elodie, Charon, Céline, Hazan, Jamile, Brice, Alexis, Stevanin, Giovanni
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.10.2007)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.10.2007)
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Journal Article
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Stevanin, Giovanni, Santorelli, Filippo, Azzedine, Hamid, Coutinho, Paula, Chomilier, Jacques, Denora, Paola, Martin, Elodie, Ouvrard-Hernandez, Anne-Marie, Tessa, Alessandra, Bouslam, Naima, Lossos, Alexander, Charles, Perrine, Loureiro, José, Elleuch, Nizar, Confavreux, Christian, Cruz, Vítor, Ruberg, Merle, Leguern, Eric, Grid, Djamel, Tazir, Meriem, Fontaine, Bertrand, Filla, Alessandro, Bertini, Enrico, Durr, Alexandra, Brice, Alexis
Published in Nature genetics (01.03.2007)
Published in Nature genetics (01.03.2007)
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A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset
Lalioti, Maria D., Scott, Hamish S., Genton, Pierre, Grid, Djamel, Ouazzani, Réda, M'Rabet, Amel, Ibrahim, Sadi, Gouider, Riadh, Dravet, Charlotte, Chkili, Taieb, Bottani, Armand, Buresi, Catherine, Malafosse, Alain, Antonarakis, Stylianos E.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME
Moore, Tom, Hecquet, Stéphane, McLellann, Andrew, Ville, Dorothée, Grid, Djamel, Picard, Fabienne, Moulard, Bruno, Asherson, Philip, Makoff, Andrew J, McCormick, David, Nashef, Lina, Froguel, Philippe, Arzimanoglou, Alexis, LeGuern, Eric, Bailleul, Bernard
Published in Epilepsy research (01.08.2001)
Published in Epilepsy research (01.08.2001)
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Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
MOULARD, Bruno, GENTON, Pierre, UTERMANN, Barbara, BALDY-MOULINIER, Michel, BELAIDI, Halima, BERTRAN, Francoise, BIRABEN, Arnaud, CHERIF, André Ali, CHKILI, Taieb, CRESPEL, Arielle, DARCEL, Francoise, DULAC, Olivier, GRID, Djamel, GENY, Christian, HUMBERT-CLAUDE, Véronique, KASSIOTIS, Philippe, BURESI, Catherine, MALAFOSSE, Alain, JEANPIERRE, Marc, OUAZZANI, Réda, MRABET, Amel, MORRIS, Mike, LEGUEM, Eric, DRAVET, Charlotte, MAUGUIERE, Francois
Published in Human genetics (01.09.2002)
Published in Human genetics (01.09.2002)
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Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias
Stevanin, Giovanni, Trottier, Yvon, Cancel, Géraldine, Dürr, Alexandra, David, Gilles, Didierjean, Olivier, Bürk, Katrin, Imbert, Georges, Saudou, Frederic, Abada-Bendib, Myriem, Gourfinkel-An, Isabelle, Benomar, Ali, Abbas, Nacer, Klockgether, Thomas, Grid, Djamel, Agid, Yves, Mandel, Jean-Louis, Brice, Alexis
Published in Human molecular genetics (01.12.1996)
Published in Human molecular genetics (01.12.1996)
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