A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy

Ján Necpál; Juliane Winkelmann; Michael Zech; Robert Jech

doi:10.1016/j.parkreldis.2023.105437

A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy

Ján Necpál
, Juliane Winkelmann
, Michael Zech
, Robert Jech

Lehrstuhl für Neurogenetik (2015 — 2023)

Comenius University Medical School
Zvolen Hospital
Helmholtz Zentrum München German Research Center for Environmental Health
Technische Universität München
Munich Cluster for Systems Neurology (SyNergy)
Charles University

Publikation: Beitrag in Fachzeitschrift › Brief › Begutachtung

3 Zitate (Scopus)

Originalsprache	Englisch
Aufsatznummer	105437
Fachzeitschrift	Parkinsonism and Related Disorders
Jahrgang	111
DOIs	https://doi.org/10.1016/j.parkreldis.2023.105437
Publikationsstatus	Veröffentlicht - Juni 2023

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10.1016/j.parkreldis.2023.105437

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title = "A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy",

author = "J{\'a}n Necp{\'a}l and Juliane Winkelmann and Michael Zech and Robert Jech",

note = "Funding Information: Supported by the project National Institute for Neurological Research (Programme EXCELES, ID Project No. LX22NPO5107 ) - Funded by the European Union – Next Generation EU; Czech Ministry of Education (under the frame of the European Joint Programme on Rare Diseases- EJP RD COFUND-EJP N° 825575, and grant number LM2018132 ) and by Charles University: Cooperation Program in Neuroscience ; JW and MZ receive research support from the German Research Foundation ( DFG 458949627 ; WI 1820/14-1 ; ZE 1213/2-1 ). ",

year = "2023",

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doi = "10.1016/j.parkreldis.2023.105437",

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T1 - A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy

AU - Necpál, Ján

AU - Winkelmann, Juliane

AU - Zech, Michael

AU - Jech, Robert

N1 - Funding Information: Supported by the project National Institute for Neurological Research (Programme EXCELES, ID Project No. LX22NPO5107 ) - Funded by the European Union – Next Generation EU; Czech Ministry of Education (under the frame of the European Joint Programme on Rare Diseases- EJP RD COFUND-EJP N° 825575, and grant number LM2018132 ) and by Charles University: Cooperation Program in Neuroscience ; JW and MZ receive research support from the German Research Foundation ( DFG 458949627 ; WI 1820/14-1 ; ZE 1213/2-1 ).

PY - 2023/6

Y1 - 2023/6

UR - https://www.scopus.com/pages/publications/85156130498

U2 - 10.1016/j.parkreldis.2023.105437

DO - 10.1016/j.parkreldis.2023.105437

M3 - Letter

AN - SCOPUS:85156130498

SN - 1353-8020

VL - 111

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

M1 - 105437

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