Phenotypic insights into ADCY5-associated disease

Movement Disorders

Volumn 31, Issue 7, 2016, Pages 1033-1040

  Chang, Florence C F ^a   Westenberger, Ana ^b   Dale, Russell C ^c,d   Smith, Martin ^e   Pall, Hardev S ^q   Perez Dueñas, Belen ^f,g   Grattan Smith, Padraic ^c   Ouvrier, Robert A ^c   Mahant, Neil ^h   Hanna, Bernadette C ⁱ   Hunter, Matthew ^i,j   Lawson, John A ^k   Max, Christoph ^b   Sachdev, Rani ^k   Meyer, Esther ^f   Crimmins, Dennis ^l   Pryor, Donald ^m   Morris, John G L ^a   Münchau, Alex ^b   Grozeva, Detelina ⁿ   Carss, Keren J ^o,p   Raymond, Lucy ⁿ   Kurian, Manju A ^f   Klein, Christine ^b   Fung, Victor S C ^a,h   more..

^a WESTMEAD HOSPITAL   (Australia)

^b UNIVERSITY OF LÜBECK   (Germany)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF BARCELONA   (Spain)

^h UNIVERSITY OF SYDNEY   (Australia)

ⁱ JOHN HUNTER HOSPITAL   (Australia)

^j Hunter Genetics   (Australia)

^k SYDNEY CHILDREN'S HOSPITAL   (Australia)

^l GOSFORD HOSPITAL   (Australia)

^m ST GEORGE HOSPITAL   (Australia)

ⁿ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^o UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^p WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^q UNIVERSITY OF BIRMINGHAM   (United Kingdom)

more..

Author keywords

adenylyl cyclase; cerebral palsy; chorea; dyskinesia; dystonia

Indexed keywords

ADENYLATE CYCLASE; ADENYLATE CYCLASE 5; BACLOFEN; CAFFEINE; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; GABAPENTIN; LEVODOPA; PHENOBARBITAL; PREGABALIN; TETRABENAZINE; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ADULT; ARTICLE; BRAIN DEPTH STIMULATION; CHILD; CHOREOATHETOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DROWSINESS; DYSKINESIA; DYSTONIA; EYE MOVEMENT DISORDER; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GLOBUS PALLIDUS; HUMAN; HYPERKINESIA; INTELLECTUAL IMPAIRMENT; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MYOCLONUS; PHENOMENOLOGY; PHENOTYPE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SANGER SEQUENCING; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING;

EID: 84977504951     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26598     Document Type: Article

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