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- [43] The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxinNature Genetics, 2001, 29 : 189 - 193Maria-Céu Moreira论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyClara Barbot论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyNobutada Tachi论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyNaoki Kozuka论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyEiji Uchida论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyToby Gibson论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyPedro Mendonça论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyManuela Costa论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyJosé Barros论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyTakayuki Yanagisawa论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyMitsunori Watanabe论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyYoshio Ikeda论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyMasashi Aoki论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyTetsuya Nagata论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyPaula Coutinho论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyJorge Sequeiros论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of NeurologyMichel Koenig论文数: 0 引用数: 0 h-index: 0机构: Institut de Génétique et de Biologie Moléculaire et Cellulaire,Department of Neurology
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- [45] LONGITUDINAL CLINICAL AND ELECTROPHYSIOLOGICAL EVALUATION OF A PATIENT WITH ATAXIA WITH OCULOMOTOR APRAXIA TYPE 2 AND A NOVEL SPLICE SITE MUTATION IN THE SENATAXIN GENEJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 : S2 - S3Al-Kaabi, A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, Canada Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, CanadaBolton, C. F.论文数: 0 引用数: 0 h-index: 0机构: Queens Univ, Dept Neurol, Kingston, ON, Canada Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, CanadaFogel, B. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, CanadaWahnich, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, CanadaNicolle, D. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, Canada Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, CanadaNicolle, M. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, Canada Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, CanadaGatti, R. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, CanadaHahn, A. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, Canada Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, Canada
- [46] Linkage analysis of three genetic loci for disease susceptibility in Tunisian Psoriatic familiesJOURNAL OF DERMATOLOGICAL SCIENCE, 2009, 54 (02) : 137 - 139Ammar, M.论文数: 0 引用数: 0 h-index: 0机构: Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, Tunisia La Rabta Hosp, Res Unit, Study Hereditary Keratinizat Disorders, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaBouchlaka-Souissi, C.论文数: 0 引用数: 0 h-index: 0机构: Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaRebai, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Biotechnol Sfax, Bioinformat & Signaling Unit, Sfax, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaDoss, N.论文数: 0 引用数: 0 h-index: 0机构: Mil Hosp Tunis, Dept Dermatol, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaSioud, A.论文数: 0 引用数: 0 h-index: 0机构: La Rabta Hosp, Dept Dermatol, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaZaraa, I.论文数: 0 引用数: 0 h-index: 0机构: La Rabta Hosp, Dept Dermatol, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaDhaoui, R.论文数: 0 引用数: 0 h-index: 0机构: Mil Hosp Tunis, Dept Dermatol, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaLaamouri, R.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Neuropathol & Neurobiol Lab, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaOsman, A. Ben论文数: 0 引用数: 0 h-index: 0机构: La Rabta Hosp, Dept Dermatol, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaBen Ammar-El Gaaied, A.论文数: 0 引用数: 0 h-index: 0机构: Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, TunisiaMokni, M.论文数: 0 引用数: 0 h-index: 0机构: La Rabta Hosp, Res Unit, Study Hereditary Keratinizat Disorders, Tunis, Tunisia La Rabta Hosp, Dept Dermatol, Tunis, Tunisia Fac Sci, Lab Genet Immunol & Human Pathol, Dept Biol, Tunis 2092, Tunisia
- [47] Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature reviewEXPERIMENTAL AND THERAPEUTIC MEDICINE, 2022, 24 (06)Albaradie, Raidah论文数: 0 引用数: 0 h-index: 0机构: King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi Arabia King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi ArabiaAlharbi, Alanoud论文数: 0 引用数: 0 h-index: 0机构: King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi Arabia King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi ArabiaAlsaffar, Gada论文数: 0 引用数: 0 h-index: 0机构: King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi Arabia King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi ArabiaAlhamad, Bayader论文数: 0 引用数: 0 h-index: 0机构: King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi Arabia King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi ArabiaBashir, Shahid论文数: 0 引用数: 0 h-index: 0机构: King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dammam 31444, Saudi Arabia King Fahad Specialist Hosp Dammam, Neurosci Ctr, Dept Pediat Neurol, Bldg 7,First Floor,Ammar Bin Thabit St, Dammam 31444, Saudi Arabia
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- [49] Whole Exome Sequencing Identifies Novel Variants Underlying Ataxia With Oculomotor Apraxia Type 1 in Pakistani Consanguineous FamiliesMOVEMENT DISORDERS, 2022, 37 : S227 - S227Saadi, S.论文数: 0 引用数: 0 h-index: 0Cali, E.论文数: 0 引用数: 0 h-index: 0Efthymiou, S.论文数: 0 引用数: 0 h-index: 0Khan, S.论文数: 0 引用数: 0 h-index: 0Khan, A.论文数: 0 引用数: 0 h-index: 0Alvi, J.论文数: 0 引用数: 0 h-index: 0Sultan, T.论文数: 0 引用数: 0 h-index: 0Tariq, M.论文数: 0 引用数: 0 h-index: 0Malik, N.论文数: 0 引用数: 0 h-index: 0Breza, M.论文数: 0 引用数: 0 h-index: 0Houlden, H.论文数: 0 引用数: 0 h-index: 0Group, S.论文数: 0 引用数: 0 h-index: 0Baig, S.论文数: 0 引用数: 0 h-index: 0
- [50] Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1JAMA NEUROLOGY, 2018, 75 (04) : 495 - 502Renaud, Mathilde论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, France Univ Strasbourg, CNRS, INSERM U964, Inst Genet & Biol Mol & Cellulaire,UMR 7104, Illkirch Graffenstaden, France Univ Strasbourg, Federat Med Translat Strasbourg, Strasbourg, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceMoreira, Maria-Ceu论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, CNRS, INSERM U964, Inst Genet & Biol Mol & Cellulaire,UMR 7104, Illkirch Graffenstaden, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceBen Monga, Bondo论文数: 0 引用数: 0 h-index: 0机构: Univ Lubumbashi, Fac Med, Lubumbashi, DEM REP CONGO Univ Lubumbashi, Ecole Sante Publ, Lubumbashi, DEM REP CONGO Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceRodriguez, Diana论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants Armand Trousseau, Serv Neuropediat, Paris, France Hop Armand Trousseau, Hop Univ Est Parisien, Ctr Reference Neurogenet, AP HP, Paris, France Univ Paris 06, Univ Pierre & Marie Curie, Sorbonne Univ, Grp Rech Clin ConCer LD, Paris, France INSERM U1141, Neuroprotect Cerveau Dev, Paris, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceDebs, Rabab论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Dept Genet, Paris, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceCharles, Perrine论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Dept Genet, Paris, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceChaouch, Malika论文数: 0 引用数: 0 h-index: 0机构: Etab Hosp Specialise, Serv Neurol, Algiers, Algeria Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceFerrat, Farida论文数: 0 引用数: 0 h-index: 0机构: Etab Hosp Specialise Ben Aknoun, Serv Neurol, Algiers, Algeria Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceLaurencin, Chloe论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Univ Lyon, Hosp Civils Lyon, Hop Neurol,Serv Neurol C, Lyon, France CNRS, Inst Sci Cognit, UMR 5229, Bron, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceVercueil, Laurent论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Pole Psychiat Neurol & Reeducat Neurol, Explorat Fonc Syst Nerveux, Grenoble, France Grenoble Inst Neurosci, INSERM U836, Batiment Edmond J Safra,Chemin Fortune Ferrini, La Tronche, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceMallaret, Martial论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Pole Psychiat Neurol & Reeducat Neurol, Explorat Fonc Syst Nerveux, Grenoble, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceM'Zahem, Abderrahim论文数: 0 引用数: 0 h-index: 0机构: CHU Constantine, Serv Neurol, Constantine, Algeria Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FrancePacha, Lamia Ali论文数: 0 引用数: 0 h-index: 0机构: CHU Mustapha, Serv Neurol, Algiers, Algeria Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceTazir, Meriem论文数: 0 引用数: 0 h-index: 0机构: CHU Mustapha, Serv Neurol, Algiers, Algeria Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceTilikete, Caroline论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Hop Neurol, Serv Neuroophthalmol, Bron, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceOllagnon, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Serv Genet & Neurogenet, Lyon, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceOchsner, Francois论文数: 0 引用数: 0 h-index: 0机构: CHU Lausanne, Serv Neurol, Lausanne, Switzerland Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceKuntzer, Thierry论文数: 0 引用数: 0 h-index: 0机构: CHU Lausanne, Serv Neurol, Lausanne, Switzerland Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceJung, Hans H.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Zurich, Dept Neurol, Zurich, Switzerland Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceBeis, Jean-Marie论文数: 0 引用数: 0 h-index: 0机构: Ctr Lay St Christophe, Inst Reg Med Phys & Readaptat, Lay St Christophe, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceNetter, Jean-Claude论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Bigorre, Serv Pediat, Tarbes, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceDjamshidian, Atbin论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceBower, Mattew论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota Hlth, Dept Neurol, Minneapolis, MN USA Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceBottani, Armand论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Geneve, Serv Genet, Geneva, Switzerland Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceWalsh, Richard论文数: 0 引用数: 0 h-index: 0机构: Trinity Coll Dublin, Acad Unit Neurol, Dublin, Ireland Natl Childrens Hosp, Adelaide & Meath Hosp Dublin, Natl Ataxia Clin, Dublin, Ireland Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceMurphy, Sinead论文数: 0 引用数: 0 h-index: 0机构: Natl Childrens Hosp, Adelaide & Meath Hosp Dublin, Natl Ataxia Clin, Dublin, Ireland Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceReiley, Thomas论文数: 0 引用数: 0 h-index: 0机构: Dept Publ Hlth & Environm, Greeley, CO USA Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceBieth, Eric论文数: 0 引用数: 0 h-index: 0机构: Hop Purpan, Serv Genet Med, Toulouse, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceRoelens, Filip论文数: 0 引用数: 0 h-index: 0机构: AZ Delta, Pediat Neurol, Roeselare, Belgium Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, France论文数: 引用数: h-index:机构:Lourenco, Charles Marques论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceJardim, Laura Bannach论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceStraussberg, Rachel论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Dept Child Neurol, Neurogenet Clin, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceLandrieu, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med Ribeirao Preto, Neurogenet Unit, Sao Paulo, Brazil Hop Bicetre, Serv Neurol Pediat, Paris, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceRoze, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Dept Genet, Paris, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceThobois, Stephane论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, Univ Lyon, Hosp Civils Lyon, Hop Neurol,Serv Neurol C, Lyon, France CNRS, Inst Sci Cognit, UMR 5229, Bron, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FrancePouget, Jean论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, Serv Neurol, Marseille, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceGuissart, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Inst Univ Rech Clin, Lab Genet Malad Rares EA7402, Montpellier, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceGoizet, Cyril论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France Univ Bordeaux, Lab Malad Rares Genet & Metab, INSERM U1211, Bordeaux, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, FranceDurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Dept Genet, Paris, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, France论文数: 引用数: h-index:机构:Koenig, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, CHU Montpellier, Inst Univ Rech Clin, Lab Genet Malad Rares EA7402, Montpellier, France Hop Univ Strasbourg, Serv Neurol, F-67098 Strasbourg, France论文数: 引用数: h-index:机构: