SGCE isoform characterization and expression in human brain: Implications for myoclonus-dystonia pathogenesis

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 438-444

  Ritz, Katja ^a   Van Schaik, Barbera D C ^a   Jakobs, Marja E ^a   Van Kampen, Antoine H ^a,b   Aronica, Eleonora ^a   Tijssen, Marina A ^a   Baas, Frank ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

alternative splicing; cerebellum; deep sequencing; imprinting; myoclonus dystonia; SGCE

Indexed keywords

EPSILON SARCOGLYCAN; ISOPROTEIN;

ADULT; AGED; ANIMAL TISSUE; ARTICLE; BLOOD; BRAIN; BRAIN NERVE CELL; CAUDATE NUCLEUS; CEREBELLUM; CLINICAL ARTICLE; CONTROLLED STUDY; DENTATE NUCLEUS; EMBRYO; EXON; FEMALE; GENE FUNCTION; GENE SEQUENCE; GLOBUS PALLIDUS; HEART; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; INTRON; MALE; MOTOR CORTEX; MOUSE; MYOCLONUS DYSTONIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIMARY SOMATOSENSORY CORTEX; PRIORITY JOURNAL; PROTEIN EXPRESSION; PURKINJE CELL; PUTAMEN; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; RAT; REAL TIME POLYMERASE CHAIN REACTION; SUBSTANTIA NIGRA; THALAMUS;

AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; BRAIN; DYSTONIC DISORDERS; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MIDDLE AGED; MUTATION; NEURONS; PEDIGREE; PHENOTYPE; PROTEIN ISOFORMS; PURKINJE CELLS; SARCOGLYCANS;

EID: 79952741163     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.206     Document Type: Article

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