Missense dopamine transporter mutations associate with adult parkinsonism and ADHD

Journal of Clinical Investigation

Volumn 124, Issue 7, 2014, Pages 3107-3120

  Hansen, Freja H ^a   Skjørringe, Tina ^b   Yasmeen, Saiqa ^b   Arends, Natascha V ^a   Sahai, Michelle A ^c   Erreger, Kevin ^d   Andreassen, Thorvald F ^a   Holy, Marion ^e   Hamilton, Peter J ^d   Neergheen, Viruna ^f   Karlsborg, Merete ^g   Newman, Amy H ^h   Pope, Simon ^f   Heales, Simon J R ^f,i   Friberg, Lars ^g   Law, Ian ^j   Pinborg, Lars H ^b   Sitte, Harald H ^e   Loland, Claus ^a   Shi, Lei ^c   Weinstein, Harel ^c   Galli, Aurelio ^d   Hjermind, Lena E ^a,b   Møller, Lisbeth B ^b   Gether, Ulrik ^a   more..

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Mental Health Center Glostrup   (Denmark)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

^f NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^g BISPEBJERG HOSPITAL   (Denmark)

^h NATIONAL INSTITUTE ON DRUG ABUSE   (United States)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j Rigshospitalet   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMPHETAMINE; DOPAMINE TRANSPORTER; HOMOVANILLIC ACID;

ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BINDING SITE; COHORT ANALYSIS; DISEASE ASSOCIATION; DOPAMINE UPTAKE; EYE TRACKING; FEMALE; GENOTYPE; HOMEOSTASIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; MICHAELIS MENTEN KINETICS; MISSENSE MUTATION; MOTOR DYSFUNCTION; NERVE DEGENERATION; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BRAIN; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DOPAMINE; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; FEMALE; HEK293 CELLS; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; OOCYTES; PARKINSONIAN DISORDERS; PEDIGREE; POSITRON-EMISSION TOMOGRAPHY; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SODIUM; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; XENOPUS;

EID: 84903769947     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI73778     Document Type: Article

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