KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?

Niccolò E. Mencacci; Norbert Brüggemann

doi:10.1016/j.parkreldis.2019.03.006

KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?

Niccolò E. Mencacci^*, Norbert Brüggemann

^*Korrespondierende/r Autor/-in für diese Arbeit

Klinik für Neurologie

Northwestern University

1 Zitat (Scopus)

Abstract

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.

Originalsprache	Englisch
Zeitschrift	Parkinsonism and Related Disorders
Jahrgang	61
Seiten (von - bis)	1-3
Seitenumfang	3
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2019.03.006
Publikationsstatus	Veröffentlicht - 01.04.2019

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

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10.1016/j.parkreldis.2019.03.006

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@article{5b180740e0b0469cb26f36c823e067c3,

title = "KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?",

abstract = "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.",

author = "Mencacci, {Niccol{\`o} E.} and Norbert Br{\"u}ggemann",

year = "2019",

month = apr,

day = "1",

doi = "10.1016/j.parkreldis.2019.03.006",

language = "English",

volume = "61",

pages = "1--3",

journal = "Parkinsonism and Related Disorders",