Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

BMC Neurology

Volumn 11, Issue , 2011, Pages

  Hopfner, Franziska ^a,b   Schormair, Barbara ^a   Knauf, Franziska ^a   Berthele, Achim ^b   Tölle, Thomas R ^b   Baron, Ralf ^c   Maier, Christoph ^d   Treede, Rolf Detlef ^e   Binder, Andreas ^c   Sommer, Claudia ^f   Maihöfner, Christian ^g   Kunz, Wolfram ^h   Zimprich, Friedrich ⁱ   Heemann, Uwe ^b   Pfeufer, Arne ^a,b   Näbauer, Michael ^j   Kääb, Stefan ^j   Nowak, Barbara ^k   Gieger, Christian ^a   Lichtner, Peter ^a,b   Trenkwalder, Claudia ^l   Oexle, Konrad ^b   Winkelmann, Juliane ^a,b   more..

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^g UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^h UNIVERSITY OF BONN   (Germany)

ⁱ MEDICAL UNIVERSITY OF VIENNA   (Austria)

^j LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^k Immenstadt and Oberstdorf   (Germany)

^l Center of Parkinsonism and Movement Disorders   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTION MYOCLONUS RENAL FAILURE SYNDROME; ADULT; AGED; ARTICLE; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENERALIZED EPILEPSY; GENETIC SCREENING; HETEROZYGOTE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; KIDNEY FAILURE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MYOCLONUS EPILEPSY; NERVE CONDUCTION; SCARB 2 GENE; SEQUENCE ANALYSIS; SIBLING; CARDIOMYOPATHY; DEMYELINATING DISEASE; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

LYSOSOME ASSOCIATED MEMBRANE PROTEIN; SCARB2 PROTEIN, HUMAN; SCAVENGER RECEPTOR;

ADULT; BASE SEQUENCE; CARDIOMYOPATHIES; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PEDIGREE; PHENOTYPE; RECEPTORS, SCAVENGER; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 80054927374     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-11-134     Document Type: Article

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