Works matching AU Hentati, Faycal

Results: 35
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    Letters to the editor.

    Published in:
    Muscle & Nerve, 1989, v. 12, n. 2, p. 156, doi. 10.1002/mus.880120212
    By:
    • Hamida, Mongi Ben;
    • Hentati, Fayçal;
    • Schady, W.;
    • Meara, R. J.;
    • England, John D.;
    • Sumner, Austin J.;
    • Fishbein, William N.;
    • Sinkeler, S. P. T.;
    • Oh, Shin J.;
    • Hurwitz, Elliott L.;
    • Lee, Kwang W.;
    • Chang, Chien W.;
    • Cho, Hyo K.;
    • Entrikin, Richard K.;
    • Abresch, Richard T.;
    • Reininghaus, Jutta;
    • Jockusch, Harald
    Publication type:
    Article
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    The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

    Published in:
    Nature Genetics, 2001, v. 29, n. 2, p. 160, doi. 10.1038/ng1001-160
    By:
    • Yang, Yi;
    • Hentati, Afif;
    • Deng, Han-Xiang;
    • Dabbagh, Omar;
    • Sasaki, Toru;
    • Hirano, Makito;
    • Hung, Wu-Yen;
    • Ouahchi, Karim;
    • Yan, Jianhua;
    • Azim, Anser C.;
    • Cole, Natalie;
    • Gascon, Generoso;
    • Yagmour, Ayesha;
    • Ben-Hamida, Mongi;
    • Pericak-Vance, Margaret;
    • Hentati, Fayçal;
    • Siddique, Teepu
    Publication type:
    Article
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    Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

    Published in:
    Nature Genetics, 2000, v. 26, n. 4, p. 480, doi. 10.1038/82638
    By:
    • Nicole, Sophie;
    • Davoine, Claire-Sophie;
    • Topaloglu, Haluk;
    • Cattolico, Laurence;
    • Barral, Duarte;
    • Beighton, Peter;
    • Hamida, Christiane Ben;
    • Hammouda, Hadi;
    • Cruaud, Corinne;
    • White, Peter S.;
    • Samson, Delphine;
    • Urtizberea, J. Andoni;
    • Lehmann-Horn, Franck;
    • Weissenbach, Jean;
    • Hentati, Faycal;
    • Fontaine, Bertrand
    Publication type:
    Article
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    Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

    Published in:
    Nature Genetics, 1998, v. 20, n. 1, p. 31, doi. 10.1038/1682
    By:
    • Liu, Jing;
    • Aoki, Masashi;
    • Illa, Isabel;
    • Wu, Chenyan;
    • Fardeau, Michel;
    • Angelini, Corrado;
    • Serrano, Carmen;
    • Urtizberea, J. Andoni;
    • Hentati, Faycal;
    • Hamida, Mongi Ben;
    • Bohlega, Saeed;
    • Culper, Edward J.;
    • Amato, Anthony A.;
    • Bossie, Karen;
    • Oeltjen, Joshua;
    • Bejaoui, Khemissa;
    • McKenna-Yasek, Diane;
    • Hosler, Betsy A.;
    • Schurr, Erwin
    Publication type:
    Article
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    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12620-9
    By:
    • Wagner, Matias;
    • Osborn, Daniel P. S.;
    • Gehweiler, Ina;
    • Nagel, Maike;
    • Ulmer, Ulrike;
    • Bakhtiari, Somayeh;
    • Amouri, Rim;
    • Boostani, Reza;
    • Hentati, Faycal;
    • Hockley, Maryam M.;
    • Hölbling, Benedikt;
    • Schwarzmayr, Thomas;
    • Karimiani, Ehsan Ghayoor;
    • Kernstock, Christoph;
    • Maroofian, Reza;
    • Müller-Felber, Wolfgang;
    • Ozkan, Ege;
    • Padilla-Lopez, Sergio;
    • Reich, Selina;
    • Reichbauer, Jennifer
    Publication type:
    Article
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    Spinal Muscular Atrophy Due to Double Gene Conversion Event.

    Published in:
    International Journal of Neuroscience, 2011, v. 121, n. 2, p. 107, doi. 10.3109/00207454.2010.529209
    By:
    • Maamouri, Wiéme;
    • Hammer, Monia Benhamed;
    • Bouhlel, Yosr;
    • Souilem, Sihem;
    • Khmiri, Najla;
    • Nehdi, Houda;
    • Hentati, Fayçal;
    • Amouri, Rim
    Publication type:
    Article
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    A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 483, doi. 10.1093/brain/awr342
    By:
    • Herson, Serge;
    • Hentati, Faycal;
    • Rigolet, Aude;
    • Behin, Anthony;
    • Romero, Norma B.;
    • Leturcq, France;
    • Laforêt, Pascal;
    • Maisonobe, Thierry;
    • Amouri, Rim;
    • Haddad, Hafedh;
    • Audit, Muriel;
    • Montus, Marie;
    • Masurier, Carole;
    • Gjata, Bernard;
    • Georger, Christophe;
    • Cheraï, Mustapha;
    • Carlier, Pierre;
    • Hogrel, Jean-Yves;
    • Herson, Ariane;
    • Allenbach, Yves
    Publication type:
    Article
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    Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.

    Published in:
    Movement Disorders, 2010, v. 25, n. 13, p. 2052, doi. 10.1002/mds.23283
    By:
    • Jasinska-Myga, Barbara;
    • Kachergus, Jennifer;
    • Vilariño-Güell, Carles;
    • Wider, Christian;
    • Soto-Ortolaza, Alexandra I.;
    • Kefi, Mounir;
    • Middleton, Lefkos T.;
    • Ishihara-Paul, Lianna;
    • Gibson, Rachel A.;
    • Amouri, Rim;
    • Yahmed, Samia Ben;
    • Sassi, Samia Ben;
    • Zouari, Mourad;
    • Euch, Ghada El;
    • Ross, Owen A.;
    • Hentati, Faycal;
    • Farrer, Matthew J.
    Publication type:
    Article
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    Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.

    Published in:
    Movement Disorders, 2006, v. 21, n. 8, p. 1102, doi. 10.1002/mds.20886
    By:
    • Tomiyama, Hiroyuki;
    • Li, Yuanzhe;
    • Funayama, Manabu;
    • Hasegawa, Kazuko;
    • Yoshino, Hiroyo;
    • Kubo, Shin-Ichiro;
    • Sato, Kenichi;
    • Hattori, Tatsuya;
    • Lu, Chin-Song;
    • Inzelberg, Rivka;
    • Djaldetti, Ruth;
    • Melamed, Eldad;
    • Amouri, Rim;
    • Gouider-Khouja, Neziha;
    • Hentati, Faycal;
    • Hatano, Yasuko;
    • Wang, Mei;
    • Imamichi, Yoko;
    • Mizoguchi, Koichi;
    • Miyajima, Hiroaki
    Publication type:
    Article
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    ATP13A2 variability in Parkinson disease.

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. 406, doi. 10.1002/humu.20877
    By:
    • Vilariño-Güell, Carles;
    • Soto, Alexandra I.;
    • Lincoln, Sarah J.;
    • Yahmed, Samia Ben;
    • Kefi, Mounir;
    • Heckman, Michael G.;
    • Hulihan, Mary M.;
    • Chai, Hua;
    • Diehl, Nancy N.;
    • Amouri, Rim;
    • Rajput, Alex;
    • Mash, Deborah C.;
    • Dickson, Dennis W.;
    • Middleton, Lefkos T.;
    • Gibson, Rachel A.;
    • Hentati, Faycal;
    • Farrer, Matthew J.
    Publication type:
    Article
    18

    Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

    Published in:
    Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388
    By:
    • Stum, Morgane;
    • Davoine, Claire-Sophie;
    • Vicart, Savine;
    • Guillot-Noël, Léna;
    • Topaloglu, Haluk;
    • Carod-Artal, Francisco Javier;
    • Kayserili, Hülya;
    • Hentati, Fayçal;
    • Merlini, Luciano;
    • Urtizberea, Jon Andoni;
    • Hammouda, EL-Hadi;
    • Quan, Phuc Canh;
    • Fontaine, Bertrand;
    • Nicole, Sophie
    Publication type:
    Article
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    Stroke in the Middle-East and North Africa: A 2-year prospective observational study of stroke characteristics in the region—Results from the Safe Implementation of Treatments in Stroke (SITS)–Middle-East and North African (MENA).

    Published in:
    International Journal of Stroke, 2019, v. 14, n. 7, p. 715, doi. 10.1177/1747493019830331
    By:
    • Rukn, Suhail Al;
    • Mazya, Michael V;
    • Hentati, Faycal;
    • Sassi, Samia Ben;
    • Nabli, Fatma;
    • Said, Zakharia;
    • Faouzi, Belahsen;
    • Hashim, Husnain;
    • Abd-Allah, Foad;
    • Mansouri, Benhan;
    • Kesraoui, Selma;
    • Gebeily, Souheil;
    • Abdulrahman, Husen;
    • Akhtar, Naveed;
    • Ahmed, Niaz;
    • Wahlgren, Nils;
    • Aref, Hany;
    • Almekhlafi, Mohammed;
    • Moreira, Tiago
    Publication type:
    Article
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    SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

    Published in:
    Neurodegenerative Diseases, 2017, v. 17, n. 4/5, p. 208, doi. 10.1159/000464445
    By:
    • Hammer, Monia B.;
    • Ding, Jinhui;
    • Mochel, Fanny;
    • Eleuch-Fayache, Ghada;
    • Charles, Perrine;
    • Coutelier, Marie;
    • Gibbs, J. Raphael;
    • arepalli, Sampath K.;
    • Chong, Sean B.;
    • Hernandez, Dena G.;
    • Majounie, Elisa;
    • Clipman, Steven;
    • Bouhlal, Yosr;
    • Nehdi, Houda;
    • Brice, alexis;
    • Hentati, Faycal;
    • Stevanin, Giovanni;
    • amouri, Rim;
    • Durr, alexandra;
    • Singleton, andrew B.
    Publication type:
    Article
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    Giant axonal neuropathy locus refinement to a < 590 kb critical interval.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200476
    By:
    • Cavalier, Laurent;
    • BenHamida, Christiane;
    • Amouri, Rim;
    • Belal, Samir;
    • Bomont, Pascale;
    • Lagarde, Nadège;
    • Gressin, Laëtitia;
    • Callen, David;
    • Demir, Ercan;
    • Topaloglu, Haluk;
    • Landrieu, Pierre;
    • Ioos, Catherine;
    • Hamida, Mongi Ben;
    • Kœnig, Michel;
    • Hentati, Fayçal
    Publication type:
    Article
    25

    A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia.

    Published in:
    PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053826
    By:
    • Ammar, Asma Ben;
    • Soltanzadeh, Payam;
    • Bauché, Stéphanie;
    • Richard, Pascale;
    • Goillot, Evelyne;
    • Herbst, Ruth;
    • Gaudon, Karen;
    • Huzé, Caroline;
    • Schaeffer, Laurent;
    • Yamanashi, Yuji;
    • Higuchi, Osamu;
    • Taly, Antoine;
    • Koenig, Jeanine;
    • Leroy, Jean-Paul;
    • Hentati, Fayçal;
    • Najmabadi, Hossein;
    • Kahrizi, Kimia;
    • Ilkhani, Manouchehr;
    • Fardeau, Michel;
    • Eymard1, Bruno
    Publication type:
    Article
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    Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families.

    Published in:
    Human Molecular Genetics, 1997, v. 6, n. 5, p. 709, doi. 10.1093/hmg/6.5.709
    By:
    • Cancel, Géraldine;
    • Dürr, Alexandra;
    • Didierjean, Olivier;
    • Imbert, Georges;
    • Bürk, Katrin;
    • Lezin, Agnès;
    • Belal, Samir;
    • Benomar, Ali;
    • Abada-Bendib, Myriem;
    • Vial, Christophe;
    • Guimarães, João;
    • Chneiweiss, Hervé;
    • Stevanin, Giovanni;
    • Yvert, Gael;
    • Abbas, Nacer;
    • Saudou, Frédéric;
    • Lebre, Anne-Sophie;
    • Yahyaoui, Mohamed;
    • Hentati, Fayçal;
    • Vernant, Jean-Claude
    Publication type:
    Article
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    Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

    Published in:
    Human Molecular Genetics, 1994, v. 3, n. 9, p. 1657
    By:
    • Hillaire, Dominique;
    • Leclerc, Anne;
    • Fauré, Sabine;
    • Topaloglu, Haluk;
    • Chiannllkulchaï, Nuchanard;
    • Guicheney, Pascale;
    • Grinas, Laurent;
    • Legos, Patricia;
    • Philpot, Joanne;
    • Evangelista, Teresinha;
    • Routon, Marie-Claude;
    • Mayer, Michèle;
    • Pellissier, Jean-Francols;
    • Estournet, Brigitte;
    • Barols, Annie;
    • Hentati, Fayçal;
    • Feingold, Nicole;
    • S.Beckmann, Jacqui;
    • Dubowitz, Victor;
    • M.S.Tomé, Fernando
    Publication type:
    Article
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    A Novel SACS Gene Mutation in a Tunisian Family.

    Published in:
    Journal of Molecular Neuroscience, 2009, v. 39, n. 3, p. 333, doi. 10.1007/s12031-009-9212-9
    By:
    • Bouhlal, Yosr;
    • Euch-Fayeche, Ghada;
    • Hentati, Fayçal;
    • Amouri, Rim
    Publication type:
    Article
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