Expanding the ataxia with oculomotor apraxia type 4 phenotype

Neurology: Genetics

Volumn 2, Issue 1, 2016, Pages

  Paucar, Martin ^a,b   Malmgren, Helena ^a,b   Taylor, Malcolm ^c   Reynolds, John J ^c   Svenningsson, Per ^a,b   Press, Rayomand ^a,b   Nordgren, Ann ^a,b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; POLYGLUTAMINE; SIMVASTATIN;

ADULT; ATAXIA TELANGIECTASIA; ATAXIA WITH OCULOMOTOR APRAXIA TYPE 4; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BODY MASS; CASE REPORT; CEREBELLUM ATROPHY; CHOREA; DISEASE COURSE; DYSTONIA; ELECTRONEUROGRAPHY; EYE EXAMINATION; FEMALE; FOOT ORTHOSIS; FRIEDREICH ATAXIA; GENE; HUMAN; HYPERCHOLESTEROLEMIA; HYPERKINESIA; HYPOALBUMINEMIA; IMMUNOGLOBULIN BLOOD LEVEL; LEARNING DISORDER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE ATROPHY; NEUROIMAGING; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERONEUS NERVE PARALYSIS; PHYSICAL EXAMINATION; POLYNUCLEOTIDE KINASE 3' PHOSPHATASE GENE; PRIORITY JOURNAL; PROPRIOCEPTION; SEQUENCE ANALYSIS; SPINOCEREBELLAR DEGENERATION; VIDEOOCULOGRAPHY; WESTERN BLOTTING; WHEELCHAIR;

EID: 84976909566     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000049     Document Type: Note

References (7)

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