Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients

Journal of the Neurological Sciences

Volumn 278, Issue 1-2, 2009, Pages 77-81

  Tazir, M ^a   Ali Pacha, L ^a   M'Zahem, A ^b   Delaunoy, J P ^c   Fritsch, M ^c   Nouioua, S ^a   Benhassine, T ^d   Assami, S ^a   Grid, D ^e   Vallat, J M ^f   Hamri, A ^b   Koenig, M ^c,g  

^a Benyoucef Benkhedda   (Algeria)

^b Centre Hospitalo Universitaire Dr Benbadis Constantine   (Algeria)

^c HÔPITAL CIVIL   (France)

^d UNIVERSITY OF SCIENCES AND TECHNOLOGY HOUARI BOUMEDIENE   (Algeria)

^e GÉNÉTHON   (France)

^f LIMOGES UNIVERSITY HOSPITAL   (France)

^g INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Alpha fetoprotein; Ataxia with oculo motor apraxia type 2; Axonal polyneuropathy; Cerebellar atrophy; Clinical phenotype; Senataxin gene

Indexed keywords

ALPHA FETOPROTEIN; AMINO ACID; SENATAXIN PROTEIN; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ALGERIA; APRAXIA; ARTICLE; ATAXIA; ATAXIA WITH OCULOMOTOR APRAXIA TYPE 2; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL FEATURE; CONTROLLED STUDY; CONVERGENT STRABISMUS; DISABILITY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE DURATION; EYE MOVEMENT DISORDER; FEMALE; GENE; GENE MUTATION; GENOME ANALYSIS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OCULOMOTOR APRAXIA; ONSET AGE; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SENATAXIN GENE; TREMOR; WRITER'S CRAMP;

ADOLESCENT; ADULT; AGE OF ONSET; ALPHA-FETOPROTEINS; APRAXIAS; ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; NERVE FIBERS, MYELINATED; NEURAL CONDUCTION; OCULAR MOTILITY DISORDERS; PEDIGREE; PHENOTYPE; RNA HELICASES; YOUNG ADULT;

EID: 58749113403     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.12.004     Document Type: Article

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