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Journal of the Neurological Sciences, ISSN 0022-510X, 2013, Volume 333, pp. e468 - e468
Journal Article
Brain, ISSN 0006-8950, 10/2009, Volume 132, Issue 10, pp. 2688 - 2698
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 03/2008, Volume 82, Issue 3, pp. 661 - 672
Muscle coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency has been identified in more than 20 patients with presumed autosomal-recessive ataxia. However,... 
PARA-HYDROXYBENZOATE | COMPLEX | PROTEIN | EXONIC SPLICING ENHANCERS | CEREBELLAR-ATAXIA | ESCHERICHIA-COLI | GENETICS & HEREDITY | UBIQUINONE BIOSYNTHESIS | MUTATIONS | GENE ENCODES | SACCHAROMYCES-CEREVISIAE
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Revue Neurologique, ISSN 0035-3787, 2008, Volume 164, pp. 31 - 31
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2016, Volume 263, Issue 7, pp. 1314 - 1322
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01/2014, ISBN 2351593898
L’apogée du pouvoir du chef des tribus kurdes Milli, Ibrahim Pacha, entre 1878 et 1908, s’inscrit dans l’histoire du déclin de l’Empire : Ibrahim Pacha Milli... 
Social Sciences, Interdisciplinary | Area Studies
Book Chapter
by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2008, Volume 278, Issue 1, pp. 77 - 81
Abstract Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the... 
Neurology | Cerebellar atrophy | Ataxia with oculo-motor apraxia type 2 | Clinical phenotype | Senataxin gene | Axonal polyneuropathy | Alpha-fetoprotein | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | NEUROPATHY | FAMILIES | RECESSIVE ATAXIA | MUTATIONS | SENATAXIN | Apraxias - pathology | Apraxias - complications | Humans | Male | Apraxias - physiopathology | Ocular Motility Disorders - genetics | alpha-Fetoproteins - analysis | Atrophy | Young Adult | Cerebellar Ataxia - physiopathology | DNA Mutational Analysis | Nerve Fibers, Myelinated - pathology | Apraxias - genetics | Adult | Female | RNA Helicases - genetics | Ocular Motility Disorders - pathology | Neural Conduction | Cerebellum - physiopathology | Cerebellar Ataxia - pathology | Disease Progression | Cerebellum - pathology | Phenotype | Cerebellar Ataxia - complications | Cerebellar Ataxia - genetics | Pedigree | Adolescent | Age of Onset | Ocular Motility Disorders - complications | Ocular Motility Disorders - physiopathology | Mutation | Medical research | Neurosciences | Genetic research | Medicine, Experimental | Ataxia | Apraxia | Glycoproteins | Cerebellum | alpha-Fetoproteins | Neurons and Cognition | Genomics | Neurobiology | Life Sciences | RNA Helicases | Genetics | Apraxias | Cerebellar Ataxia | Ocular Motility Disorders | Biochemistry, Molecular Biology | Human health and pathology | Molecular biology | Nerve Fibers, Myelinated | Human genetics
Journal Article
Human Mutation, ISSN 1059-7794, 05/2010, Volume 31, Issue 5, pp. E1319 - E1331
Journal Article
Journal of Neurology, ISSN 0340-5354, 1/2011, Volume 258, Issue 1, pp. 56 - 67
Journal Article
Journal Article
Journal Article