Amacr mutations cause late-onset autosomal recessive cerebellar ataxia

Neurology

Volumn 76, Issue 20, 2011, Pages 1768-1770

  Dick, David ^a   Horvath, Rita ^b   Chinnery, Patrick F ^b,c  

^a NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; CONTRAST MEDIUM;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL EXAMINATION; CLONIC SEIZURE; CONTRAST ENHANCEMENT; DYSARTHRIA; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MINI MENTAL STATE EXAMINATION; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SHORT TERM MEMORY; SLURRED SPEECH; TONIC SEIZURE;

EPILEPSY, TONIC-CLONIC; FATTY ACIDS; GAIT DISORDERS, NEUROLOGIC; GENES, RECESSIVE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMORY DISORDERS; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; RACEMASES AND EPIMERASES; SPEECH DISORDERS; SPINOCEREBELLAR DEGENERATIONS;

EID: 79957499681     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31821a4484     Document Type: Article

References (6)

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