SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure

Annals of Neurology

Volumn 66, Issue 4, 2009, Pages 532-536

  Dibbens, L M ^a,b   Michelucci, R ^c   Gambardella, A ^d   Andermann, F ^e,f   Rubboli, G ^c   Bayly, M A ^a   Joensuu, T ^g   Vears, D F ^h   Franceschetti, S ⁱ   Canafoglia, L ⁱ   Wallace, R ^j   Bassuk, A G ^k   Power, D A ^l   Tassinari, C A ^m   Andermann, E ^e,f   Lehesjoki, A E ^g   Berkovic, Samuel F ^h  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c BELLARIA HOSPITAL   (Italy)

^d INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^e MCGILL UNIVERSITY   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g UNIVERSITY OF HELSINKI   (Finland)

^h UNIVERSITY OF MELBOURNE   (Australia)

ⁱ DEPARTMENT OF NEUROSURGERY   (Italy)

^j UNIVERSITY OF QUEENSLAND   (Australia)

^k UNIVERSITY OF IOWA   (United States)

^l AUSTIN HEALTH   (Australia)

^m UNIVERSITY OF BOLOGNA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATIN B;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CSTB GENE; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; HUMAN; KIDNEY FAILURE; MALE; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; ONSET AGE; PATIENT COUNSELING; PRICKLE1 GENE; PRIORITY JOURNAL; PROGNOSIS; PROTEINURIA; SCARB2 GENE;

ADOLESCENT; ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOLLOW-UP STUDIES; HUMANS; KIDNEY FAILURE; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; POLYMERASE CHAIN REACTION; RECEPTORS, SCAVENGER; RNA SPLICING; UNVERRICHT-LUNDBORG SYNDROME; YOUNG ADULT;

EID: 70449364101     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21765     Document Type: Article

References (14)

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