Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

Movement Disorders

Volumn 32, Issue 4, 2017, Pages 549-559

  Zech, Michael ^a,b   Boesch, Sylvia ^c   Jochim, Angela ^b   Weber, Sandrina ^a   Meindl, Tobias ^b   Schormair, Barbara ^a   Wieland, Thomas ^a   Lunetta, Christian ^d   Sansone, Valeria ^e,f   Messner, Michael ^g   Mueller, Joerg ^c,h   Ceballos Baumann, Andres ^b,g   Strom, Tim M ^a,i   Colombo, Roberto ^j,k   Poewe, Werner ^c   Haslinger, Bernhard ^b   Winkelmann, Juliane ^a,b,l  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d Neuromuscular Omnicentre Sud (NEMO SUD)   (Italy)

^e Fondazione Serena ONLUS   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g Center for Parkinson's Disease and Movement Disorders Schön Klinik München Schwabing   (Germany)

^h Vivantes Klinikum Spandau   (Germany)

ⁱ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^j CATHOLIC UNIVERSITY   (Italy)

^k Division of Infectious Disease   (Italy)

^l Technische Universität München Munich Cluster for Systems Neurology   (Germany)

more..

Author keywords

ADCY5; ANO3; diagnostics; dystonia; exome

Indexed keywords

CARBIDOPA PLUS LEVODOPA; ADENYLATE CYCLASE; ADENYLYL CYCLASE TYPE V; ANOCTAMIN 3, HUMAN; APOPTOSIS REGULATORY PROTEIN; CHAPERONE; CHLORIDE CHANNEL; DNA BINDING PROTEIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; NUCLEAR PROTEIN; THAP1 PROTEIN, HUMAN; TOR1A PROTEIN, HUMAN;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC SCREENING; HAPLOTYPE; HUMAN; MALE; PHENOTYPE; PILOT STUDY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; DNA MUTATIONAL ANALYSIS; DYSTONIA; EXOME; FAMILY HEALTH; FOLLOW UP; GENETICS; MIDDLE AGED; MOLECULAR MODEL; MUTATION; YOUNG ADULT;

ADENYLYL CYCLASES; ADULT; APOPTOSIS REGULATORY PROTEINS; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DYSTONIA; EXOME; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; GTP CYCLOHYDROLASE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR CHAPERONES; MUTATION; NUCLEAR PROTEINS; YOUNG ADULT;

EID: 84994225816     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26808     Document Type: Article

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