Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients

Brain

Volumn 127, Issue 4, 2004, Pages 759-767

  Le Ber, Isabelle ^a   Bouslam, Naïma ^a,d   Rivaud Péchoux, Sophie ^a   Guimarães, João ^e   Benomar, Ali ^d   Chamayou, Céline ^a   Goizet, Cyril ^b   Moreira, Maria Ceù ^c   Klur, Sandra ^c   Yahyaoui, Mohamed ^d   Agid, Yves ^a   Koenig, Michel ^c   Stevanin, Giovanni ^a   Brice, Alexis ^a   Dürr, Alexandra ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

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

^d IBN SINA HOSPITAL   (Morocco)

^e HOSPITAL EGAS MONIZ   (Portugal)

Author keywords

foetoprotein; AOA1; AOA2; Cerebellar ataxia; Ocular motor apraxia

Indexed keywords

APRAXIA; ARTICLE; ATAXIA; ATAXIA TELANGIECTASIA; ATAXIA WITH OCULOMOTOR APRAXIA TYPE 2; AUTOSOMAL RECESSIVE DISORDER; CARIBBEAN ISLANDS; CEREBELLAR ATAXIA; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSMETRIA; DYSTONIA; EUROPE; FAMILIAL DISEASE; FEMALE; FRIEDREICH ATAXIA; GEOGRAPHIC DISTRIBUTION; HUMAN; LATENT PERIOD; MAJOR CLINICAL STUDY; MALE; MOTOR NEUROPATHY; NEUROIMAGING; NEUROPSYCHOLOGY; NORTH AFRICA; OCULOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT;

ADOLESCENT; ADULT; AGE OF ONSET; ALPHA-FETOPROTEINS; APRAXIAS; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; GAIT ATAXIA; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LOD SCORE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; OCULAR MOTILITY DISORDERS; PEDIGREE; PHENOTYPE;

EID: 11144355513     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh080     Document Type: Article

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