Search Results - "GRID, Djamel"

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H by 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

“…Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle…”
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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 by 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

“…The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically heterogeneous hereditary motor and sensory neuropathies, which are…”
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Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes by 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

“…Abstract Autosomal recessive Charcot-Marie-Tooth diseases, relatively common in Algeria due to high prevalence of consanguineous marriages, are clinically and…”
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Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families by 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

“…Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic…”
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Mutations in SPG11 , encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum by 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

“…Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic…”
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Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1 by Guilbot, A, Ravisé, N, Bouhouche, A, Coullin, P, Birouk, N, Maisonobe, T, Kuntzer, T, Vial, C, Grid, D, Brice, A, LeGuern, E

“…Charcot-Marie-Tooth disease is an heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes of inheritance: autosomal…”
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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

“…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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Phenotypic variability in giant axonal neuropathy by Tazir, Meriem, Nouioua, Sonia, Magy, Laurent, Huehne, Kathrin, Assami, Salima, Urtizberea, Andoni, Grid, Djamel, Hamadouche, Tarik, Rautenstrauss, Bernd, Vallat, Jean-Michel

“…Abstract Giant axonal neuropathy (GAN), a severe childhood disorder affecting both the peripheral nerves and the central nervous system, is due to mutations in…”
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Pantothenate kinase-associated neurodegeneration: Clinical description of 10 patients and identification of new mutations by Assami, Salima, Azzedine, Hamid, Nouioua, Sonia, Mundwiller, Emeline, Mahoui, Soulaiman, Makri, Samira, Djemai, Meriam, Grid, Djamel, Brice, Alexis, Hamadouche, Tarik, Stevanin, Giovanni, Tazir, Meriem

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Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7) by 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

“…Spinocerebellar ataxia 7 (SCA7) is caused by the expansion of an unstable CAG repeat in the first exon of the SCA7 gene. We have analyzed the SCA7 mutation in…”
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Autosomal-recessive charcot-marie-tooth diseases by VALLAT, Jean-Michel, TAZIR, Meriem, MAGDELAINE, Corinne, STURTZ, Franck, GRID, Djamel

“…In certain countries around the Mediterranean basin such as Algeria, which have a high prevalence of consanguineous marriages, autosomal-recessive (AR)…”
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Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance by Vallat, Jean-Michel, Magy, Laurent, Lagrange, Emmeline, Sturtz, Franck, Magdelaine, Corinne, Grid, Djamel, Tazir, Mériem

“…We report two sporadic patients of CMT disease in different consanguineous families. The electrophysiological examination led to the diagnosis of a severe…”
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A Novel Protein Tyrosine Phosphatase Gene Is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (EPM2) by 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

“…Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy,…”
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Caractéristiques cliniques et évolutives des syndromes myasthéniques congénitaux liés à la mutation 1293insG by Ziari, Abderrahmane, Sifi, Yamina, Semra, Houda, Chibane, Afef, Grid, Djamel, Hamri, Abdelmajid, Boudraa, Brahim

“…Les syndromes myasthéniques congénitaux (SMC) liés à la mutation 1293insG portée par le gène CHRNE sont de transmission autosomique récessive et affectent la…”
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Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description by 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

“…Thirty‐three different loci for hereditary spastic paraplegias (HSP) have been mapped, and 15 responsible genes have been identified. Autosomal recessive…”
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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum by 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

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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 by 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.

“…Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is a rare, autosomal recessive disorder characterized by onset at age 6–16 years,…”
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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 by 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

“…Disruption of the function of the mouse jerky gene by transgene insertion causes generalized recurrent seizures reminiscent of human idiopathic generalized…”
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Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias by 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

“…Expansion of trinucleotide CAG repeats coding for polyglutamine has been implicated in five neurodegenerative disorders, including spinocerebellar ataxia (SCA)…”
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Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations by 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

“…Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly…”
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