SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Journal of Neurology

Volumn 261, Issue 12, 2014, Pages 2296-2304

  Peall, Kathryn J ^a   Kurian, Manju A ^b,c   Wardle, Mark ^a   Waite, Adrian J ^a   Hedderly, Tammy ^d   Lin, Jean Pierre ^d   Smith, Martin ^e   Whone, Alan ^f   Pall, Hardev ^g   White, Cathy ^h   Lux, Andrew ⁱ   Jardine, Philip E ⁱ   Lynch, Bryan ^j   Kirov, George ^a   O’Riordan, Sean ^k   Samuel, Michael ^l   Lynch, Timothy ^m   King, Mary D ^j   Chinnery, Patrick F ⁿ   Warner, Thomas T ^o   Blake, Derek J ^a   Owen, Michael J ^a   Morris, Huw R ^o   more..

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f FRENCHAY HOSPITAL   (United Kingdom)

^g UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^h SINGLETON HOSPITAL   (United Kingdom)

ⁱ BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^j CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^k ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

^l KING'S COLLEGE LONDON   (United Kingdom)

^m MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

ⁿ NEWCASTLE UNIVERSITY   (United Kingdom)

^o UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Dystonia; Genetic and inherited disorders; Myoclonus; SGCE

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC TEST ACCURACY STUDY; DYSTONIA; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; GENOTYPE; HUMAN; INTRAUTERINE GROWTH RETARDATION; IRELAND; JOINT LAXITY; LANGUAGE DELAY; LEG; MALE; MICROCEPHALY; MOLECULAR DIAGNOSIS; MYOCLONUS; MYOCLONUS DYSTONIA; ONSET AGE; PHENOTYPE; PREDICTIVE VALUE; PREDICTOR VARIABLE; PRIORITY JOURNAL; PSYCHOSIS; SENSITIVITY AND SPECIFICITY; SGCE GENE; SHORT STATURE; TIC; TREMOR; UNITED KINGDOM; AGED; COHORT ANALYSIS; DYSTONIC DISORDERS; GENETICS; MIDDLE AGED; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

SARCOGLYCAN; SGCE PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DYSTONIA; DYSTONIC DISORDERS; FEMALE; GENE DELETION; GENOTYPE; GREAT BRITAIN; HUMANS; IRELAND; MALE; MIDDLE AGED; PHENOTYPE; SARCOGLYCANS; YOUNG ADULT;

EID: 84920982696     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7488-3     Document Type: Article

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