Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: Findings from the ZOOM study

Human Molecular Genetics

Volumn 22, Issue 21, 2013, Pages 4349-4356

  Bauer, Peter ^a   Balding, David J ^b   Klünemann, Hans H ^c   Linden, David E J ^d   Ory, Daniel S ^e   Pineda, Mercè ^f   Priller, Josef ^g   Sedel, Frederic ^h   Muller, Audrey ⁱ   Chadha Boreham, Harbajan ⁱ   Welford, Richard W D ⁱ   Strasser, Daniel S ⁱ   Patterson, Marc C ^j  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e WashingtonSchoolofMedicine   (United States)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ ACTELION PHARMACEUTICALS LTD   (Switzerland)

^j MAYO CLINIC   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTANE DERIVATIVE; CHOLESTANETRIOL; FILIPIN; SPHINGOLIPID; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MALE; MENTAL DISEASE; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; NPC1 GENE; NPC2 GENE; OBSERVATIONAL STUDY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALLELES; CARRIER PROTEINS; FEMALE; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; GLYCOPROTEINS; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84885830296     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt284     Document Type: Article

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