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Volumn 255, Issue 9, 2008, Pages 1429-1431
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A novel mutation in the SACS gene associated with a complicated form of spastic ataxia
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Author keywords
[No Author keywords available]
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Indexed keywords
ALBUMIN;
ALPHA FETOPROTEIN;
ALPHA TOCOPHEROL;
CHOLESTEROL;
GLIADIN ANTIBODY;
GLUTAMATE DECARBOXYLASE ANTIBODY;
LACTIC ACID;
PORPHYRIN;
ADULT;
ALBUMIN BLOOD LEVEL;
ATAXIA;
CASE REPORT;
CHOLESTEROL BLOOD LEVEL;
ECHOCARDIOGRAPHY;
GENE;
GENE MUTATION;
GENE SEQUENCE;
GENETIC SCREENING;
HUMAN;
LACTATE BLOOD LEVEL;
LETTER;
MALE;
NEUROPSYCHOLOGICAL TEST;
NEURORADIOLOGY;
NUCLEAR MAGNETIC RESONANCE IMAGING;
NUCLEOTIDE SEQUENCE;
OPHTHALMOSCOPY;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
SACS GENE;
SOUTHERN BLOTTING;
SPASTICITY;
VITAMIN BLOOD LEVEL;
AMINO ACID SEQUENCE;
ATAXIA;
BASE SEQUENCE;
BRAIN;
CODON, NONSENSE;
DNA MUTATIONAL ANALYSIS;
FEMALE;
HEAT-SHOCK PROTEINS;
HUMANS;
MAGNETIC RESONANCE IMAGING;
MALE;
MIDDLE AGED;
MUSCLE SPASTICITY;
PEDIGREE;
SPINAL CORD;
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EID: 55149090493
PISSN: 03405354
EISSN: 14321459
Source Type: Journal
DOI: 10.1007/s00415-008-0936-1 Document Type: Letter |
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Times cited : (8)
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References (12)
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