Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

Cerebellum

Volumn 7, Issue 2, 2008, Pages 106-114

  Matilla Dueñas, Antoni ^a,c   Goold, Robert ^a   Giunti, Paola ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

Ataxin 1; Cerebellum; Neurodegeneration; Polyglutamine; SCA1; Spinocerebellar ataxia; Therapy

Indexed keywords

ATAXIN 1; GLUTAMIC ACID; MUTANT PROTEIN; POLYGLUTAMINE; ATAXIN-1; NERVE PROTEIN; NUCLEAR PROTEIN; POLYGLUTAMIC ACID;

AMINO ACID SEQUENCE; BRAIN STEM; CALCIUM HOMEOSTASIS; CELL DEATH; CEREBELLAR ATAXIA; CEREBELLUM; CLINICAL FEATURE; COMPUTER ASSISTED EMISSION TOMOGRAPHY; EXCITOTOXICITY; EXTRAPYRAMIDAL SYMPTOM; GENETIC ANALYSIS; HUMAN; MOLECULAR GENETICS; NERVE DEGENERATION; NEUROIMAGING; NONHUMAN; OPHTHALMOPLEGIA; PATHOGENESIS; PATHOPHYSIOLOGY; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PYRAMIDAL SIGN; REVIEW; SIGNAL TRANSDUCTION; SPINOCEREBELLAR DEGENERATION; SPINOCEREBELLAR TRACT; TRANSCRIPTION REGULATION; AGED; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; CLASSIFICATION; COGNITIVE DEFECT; GENETICS; MUTATION; ONSET AGE; PROTEIN CONFORMATION; TRINUCLEOTIDE REPEAT;

AGE OF ONSET; AGED; CHILD; COGNITION DISORDERS; HUMANS; MODELS, MOLECULAR; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYGLUTAMIC ACID; PROTEIN CONFORMATION; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEATS;

EID: 65849214710     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-008-0009-0     Document Type: Review

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