Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

Ivana Dzinovic; Elisabeth Graf; Melanie Brugger; Riccardo Berutti; Iva Příhodová; Astrid Blaschek; Juliane Winkelmann; Robert Jech; Katharina Vill; Michael Zech

doi:10.1002/mdc3.13793

Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

Ivana Dzinovic, Elisabeth Graf, Melanie Brugger, Riccardo Berutti, Iva Příhodová, Astrid Blaschek, Juliane Winkelmann, Robert Jech, Katharina Vill, Michael Zech

Lehrstuhl für Neurogenetik (2015 — 2023)

Publikation: Beitrag in Fachzeitschrift › Kommentar/Debatte

Originalsprache	Englisch
Seiten (von - bis)	1159-1161
Seitenumfang	3
Fachzeitschrift	Movement Disorders Clinical Practice
Jahrgang	10
Ausgabenummer	7
DOIs	https://doi.org/10.1002/mdc3.13793
Publikationsstatus	Veröffentlicht - Juli 2023

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10.1002/mdc3.13793

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title = "Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch",

author = "Ivana Dzinovic and Elisabeth Graf and Melanie Brugger and Riccardo Berutti and Iva P{\v r}{\'i}hodov{\'a} and Astrid Blaschek and Juliane Winkelmann and Robert Jech and Katharina Vill and Michael Zech",

note = "Funding Information: This study was funded by in‐house institutional funding of Technical University of Munich, Munich, Germany. JW and MZ receive research support from the German Research Foundation (DFG 458949627; WI 1820/14‐1; ZE 1213/2‐1). There are no conflicts of interest to report. Funding Sources and Conflicts of Interest: ",

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AU - Dzinovic, Ivana

AU - Graf, Elisabeth

AU - Brugger, Melanie

AU - Berutti, Riccardo

AU - Příhodová, Iva

AU - Blaschek, Astrid

AU - Winkelmann, Juliane

AU - Jech, Robert

AU - Vill, Katharina

AU - Zech, Michael

N1 - Funding Information: This study was funded by in‐house institutional funding of Technical University of Munich, Munich, Germany. JW and MZ receive research support from the German Research Foundation (DFG 458949627; WI 1820/14‐1; ZE 1213/2‐1). There are no conflicts of interest to report. Funding Sources and Conflicts of Interest:

PY - 2023/7

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U2 - 10.1002/mdc3.13793

DO - 10.1002/mdc3.13793

M3 - Comment/debate

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VL - 10

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