Search Results - "TAZIR, Meriem"

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification by Mathis, Stéphane, Goizet, Cyril, Tazir, Meriem, Magdelaine, Corinne, Lia, Anne-Sophie, Magy, Laurent, Vallat, Jean-Michel

“…Charcot-Marie-Tooth (CMT) disease, the most frequent form of inherited neuropathy, is a genetically heterogeneous group of disorders of the peripheral nervous…”
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Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update by Tazir, Meriem, Hamadouche, Tarik, Nouioua, Sonia, Mathis, Stephane, Vallat, Jean-Michel

“…Abstract Hereditary motor and sensory neuropathies (HMSN) or Charcot–Marie–Tooth (CMT) diseases are the most common degenerative disorders of the peripheral…”
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Characterization of Recessive Parkinson Disease in a Large Multicenter Study by Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean‐Christophe, Brice, Alexis, Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Ben Romdhan, Sawssan, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Le Toullec, Benjamin, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Ben Djebara, Mouna, Gouider, Riadh, Tazir, Meriem, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andy, Corvol, Jean‐Christophe, Brice, Alexis

“…Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene‐targeting approaches for Parkinson…”
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DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study by Trinh, Joanne, BSc, Gustavsson, Emil K, MSc, Vilariño-Güell, Carles, PhD, Bortnick, Stephanie, BSc, Latourelle, Jeanne, PhD, McKenzie, Marna B, BSc, Tu, Chelsea Szu, MSc, Nosova, Ekaterina, PhD, Khinda, Jaskaran, BSc, Milnerwood, Austen, PhD, Lesage, Suzanne, PhD, Brice, Alexis, MD, Tazir, Meriem, MD, Aasly, Jan O, MD, Parkkinen, Laura, PhD, Haytural, Hazal, MSc, Foroud, Tatiana, PhD, Myers, Richard H, PhD, Sassi, Samia Ben, MD, Hentati, Emna, MD, Nabli, Fatma, MD, Farhat, Emna, MD, Amouri, Rim, PhD, Hentati, Fayçal, MD, Farrer, Matthew J, Dr

“…Summary Background Leucine-rich repeat kinase 2 ( LRRK2 ) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white…”
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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

“…Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing…”
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Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report by Kediha, Mohamed Islam, Tazir, Meriem, Sternberg, Damien, Eymard, Bruno, Alipacha, Lamia

“…Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of…”
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Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes by Tazir, Meriem, Bellatache, Mounia, Nouioua, Sonia, Vallat, Jean-Michel

“…The prevalence of Charcot‐Marie‐Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) varies in different populations. While in some countries…”
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NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study by Echaniz-Laguna, Andoni, Altuzarra, Cecilia, Verloes, Alain, De La Banda, Marta Gomez Garcia, Quijano-Roy, Susana, Tudorache, Raluca Anca, Jaxybayeva, Altynshash, Myrzaliyeva, Bakhytkul, Tazir, Meriem, Vallat, Jean-Michel, Francou, Bruno, Urtizberea, Jon Andoni

“…Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the…”
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 by Bomont, Pascale, Barbot, Clara, Németh, Andrea H, M'Zahem, Abderrahim, Benhassine, Traki, Aubourg, Patrick, Schöls, Lüdger, Calvas, Patrick, Koenig, Michel, Tanaka, Makoto, Dürr, Alexandra, Sequeiros, Jorge, Coutinho, Paula, Brice, Alexis, Bouslam, Naïma, Mendonça, Pedro, Stevanin, Giovanni, Tazir, Meriem, Ber, Isabelle Le, Klur, Sandra, Pandolfo, Massimo, Dunne, Eimear, Moniz, José-Carlos, Warter, Jean-Marie, Watanabe, Mitsunori, Schulz, Jörg B, Moreira, Maria-Céu, Shaw, Christopher E, Tranchant, Christine, Guimarães, João, Shizuka-Ikeda, Masami, Shoji, Mikio, Pouget, Jean, Izatt, Louise

“…Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which…”
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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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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy by Koenig, Michel, Belal, Samir, Hentati, Fayçal, Bomont, Pascale, Cavalier, Laurent, Demir, Ercan, Korinthenberg, Rudolf, Tüysüz, Beyhan, Hamida, Christiane Ben, Blondeau, François, Topaloglu, Haluk, Landrieu, Pierre, Tazir, Meriem

“…Disorganization of the neurofilament network is a prominent feature of several neurodegenerative disorders including amyotrophic lateral sclerosis (ALS),…”
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A case of congenital limb girdle myasthenia solved through a tripartite collaboration by Nouioua, Sonia, Malfatti, Edoardo, Gianina, Ravenscroft, Hellal, Sihem, Meriem, Tazir, Urtizberea, J Andoni

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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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Distal hereditary motor neuropathies by Tazir, Meriem, Nouioua, Sonia

“…•HSPB1, GARS, BICB2 and DNAJB2 among the most frequent dHMN genes.•SIGMAR1 and VRK1 associated with a motor neuropathy and upper motoneuron involvement. With…”
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Intragenic deletion patterns of dystrophin gene in Duchenne and Becker muscular dystrophy patients from Algeria by Cherrallah, Amira, Benhassine, Traki, Nouioua, Sonia, Makri, Samira, Chaouch, Malika, Tazir, Meriem, Hamadouche, Tarik

“…Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most frequent neuromuscular diseases in humans (1/3,500–6,000 live male births),…”
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Hereditary peripheral neuropathies by Vallat, Jean-Michel, Tazir, Mériem, Calvo, Judith, Funalot, Benoît

“…Currently more than 30 genes are known to be responsible for genetically determined neuropathies. Charcot-Marie-Tooth (CMT) disease is the most frequent of…”
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Beyond the disability, what is the quality of life in Algerian patients with multiple sclerosis? by Hecham, Nassima, Tazir, Meriem, Pacha, Lamia Ali

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The methylenetetrahydrofolate reductase C677T and A1298C genetic polymorphisms and plasma homocysteine in Alzheimer's disease in an Algerian population by Bouguerra, Khadidja, Tazir, Meriem, Melouli, Hamid, Khelil, Malika

“…The etiology of Alzheimer's disease (AD) is multifactorial. The most important challenge of research is the identification of potential biomarkers associated…”
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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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Updating the classification of inherited neuropathies: Results of an international survey by Magy, Laurent, Mathis, Stéphane, Le Masson, Gwendal, Goizet, Cyril, Tazir, Meriem, Vallat, Jean-Michel

“…OBJECTIVEThe continual discovery of disease-causing gene mutations has led to difficulties in the complex classification of Charcot-Marie-Tooth diseases (CMT)…”
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