TY - JOUR
T1 - KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?
AU - Mencacci, Niccolò E.
AU - Brüggemann, Norbert
PY - 2019/4/1
Y1 - 2019/4/1
N2 - Over the past decade, the increasingly widespread use of next-generation sequencing (NGS), and in particular of whole-exome sequencing (WES), has allowed the identification of genes responsible for Mendelian diseases at an extraordinary and unprecedented pace.
AB - Over the past decade, the increasingly widespread use of next-generation sequencing (NGS), and in particular of whole-exome sequencing (WES), has allowed the identification of genes responsible for Mendelian diseases at an extraordinary and unprecedented pace.
UR - http://www.scopus.com/inward/record.url?scp=85062893777&partnerID=8YFLogxK
UR - http://www.mendeley.com/research/kctd17-confirmed-new-gene-dystonia-it-responsible-sgcenegative-myoclonusdystonia
U2 - 10.1016/j.parkreldis.2019.03.006
DO - 10.1016/j.parkreldis.2019.03.006
M3 - Editorial
C2 - 30894301
AN - SCOPUS:85062893777
SN - 1353-8020
VL - 61
SP - 1
EP - 3
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -