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

Detalles Bibliográficos
Autores principales: Dzinovic, Ivana, Graf, Elisabeth, Brugger, Melanie, Berutti, Riccardo, Příhodová, Iva, Blaschek, Astrid, Winkelmann, Juliane, Jech, Robert, Vill, Katharina, Zech, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Letters: Genotype and Phenotype
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354604/
https://www.ncbi.nlm.nih.gov/pubmed/37476319
http://dx.doi.org/10.1002/mdc3.13793
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author Dzinovic, Ivana
Graf, Elisabeth
Brugger, Melanie
Berutti, Riccardo
Příhodová, Iva
Blaschek, Astrid
Winkelmann, Juliane
Jech, Robert
Vill, Katharina
Zech, Michael
author_facet Dzinovic, Ivana
Graf, Elisabeth
Brugger, Melanie
Berutti, Riccardo
Příhodová, Iva
Blaschek, Astrid
Winkelmann, Juliane
Jech, Robert
Vill, Katharina
Zech, Michael
author_sort Dzinovic, Ivana
collection PubMed
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spelling pubmed-103546042023-07-20 Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch Dzinovic, Ivana Graf, Elisabeth Brugger, Melanie Berutti, Riccardo Příhodová, Iva Blaschek, Astrid Winkelmann, Juliane Jech, Robert Vill, Katharina Zech, Michael Mov Disord Clin Pract Letters: Genotype and Phenotype John Wiley & Sons, Inc. 2023-06-20 /pmc/articles/PMC10354604/ /pubmed/37476319 http://dx.doi.org/10.1002/mdc3.13793 Text en © 2023 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Letters: Genotype and Phenotype
Dzinovic, Ivana
Graf, Elisabeth
Brugger, Melanie
Berutti, Riccardo
Příhodová, Iva
Blaschek, Astrid
Winkelmann, Juliane
Jech, Robert
Vill, Katharina
Zech, Michael
Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
title Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
title_full Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
title_fullStr Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
title_full_unstemmed Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
title_short Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
title_sort challenges in establishing the diagnosis of prrt2 ‐related dystonia: recurrent pathogenic variants in a homopolymeric stretch
topic Letters: Genotype and Phenotype
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354604/
https://www.ncbi.nlm.nih.gov/pubmed/37476319
http://dx.doi.org/10.1002/mdc3.13793
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