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

Chair of Neurogenetics (2015 — 2023)

Research output: Contribution to journal › Comment/debate

Original language	English
Pages (from-to)	1159-1161
Number of pages	3
Journal	Movement Disorders Clinical Practice
Volume	10
Issue number	7
DOIs	https://doi.org/10.1002/mdc3.13793
State	Published - Jul 2023

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10.1002/mdc3.13793

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@article{442ed4192bd9437299bfd12e92e7f17e,

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: ",

year = "2023",

month = jul,

doi = "10.1002/mdc3.13793",

language = "English",

volume = "10",

pages = "1159--1161",

journal = "Movement Disorders Clinical Practice",

issn = "2330-1619",

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TY - JOUR

T1 - Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia

T2 - Recurrent Pathogenic Variants in a Homopolymeric Stretch

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

Y1 - 2023/7

UR - http://www.scopus.com/inward/record.url?scp=85162956157&partnerID=8YFLogxK

U2 - 10.1002/mdc3.13793

DO - 10.1002/mdc3.13793

M3 - Comment/debate

AN - SCOPUS:85162956157

SN - 2330-1619

VL - 10

SP - 1159

EP - 1161

JO - Movement Disorders Clinical Practice

JF - Movement Disorders Clinical Practice

IS - 7

ER -

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

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