PuSH - Publication Server of Helmholtz Zentrum München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Pavelekova, P.* ; Jech, R.* ; Zech, M. ; Krepelova, A.* ; Han, V.* ; Mosejova, A.* ; Liba, Z.* ; Urgošík, D.* ; Gdovinova, Z.* ; Havránková, P.* ; Fečíková, A.* ; Winkelmann, J. ; Škorvánek, M.*

Atypical presentations of DYT1 dystonia with acute craniocervical onset.

Parkinsonism Relat. Disord. 83, 54-55 (2021)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.
Impact Factor
Scopus SNIP
Altmetric
4.891
1.415
Tags
Annotations
Special Publikation
Hide on homepage

Edit extra information
Edit own tags
Private
Edit own annotation
Private
Hide on publication lists
on hompage
Mark as special
publikation
Publication type Article: Journal article
Document type Scientific Article
Keywords Acute Onset ; Acute-onset Dystonia ; Atypical Dyt1 ; Dyt1 ; Rapid-onset Dystonia ; Tor1a; Phenotypes
Language english
Publication Year 2021
HGF-reported in Year 2021
ISSN (print) / ISBN 1353-8020
e-ISSN 1873-5126
Journal Parkinsonism & Related Disorders
Quellenangaben Volume: 83, Issue: , Pages: 54-55 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place The Boulevard, Langford Lane, Kidlington, Oxford Ox5 1gb, Oxon, England
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
Grants Helmholtz Center Munich, Germany
Helmholtz Zentrum Munchen, Munich, Germany
Technische Universitat Munchen, Munich, Germany
Czech Ministry of Education
MH CZ - DRO University Hospital Motol
Ministry of Health of the Czech Republic (AZV)
Slovak Research and Development Agency
DOI 10.1016/j.parkreldis.2020.12.019
WOS ID WOS:000631818800011
Scopus ID 85100166660
PubMed ID 33476878
Erfassungsdatum 2021-02-09
[➜Report correction]