Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

Detalles Bibliográficos
Autores principales: Fleszar, Zofia, Dufke, Claudia, Sturm, Marc, Schüle, Rebecca, Schöls, Ludger, Haack, Tobias B., Synofzik, Matthis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Letter to the Editors
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345027/
https://www.ncbi.nlm.nih.gov/pubmed/37119371
http://dx.doi.org/10.1007/s00415-023-11745-8
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author Fleszar, Zofia
Dufke, Claudia
Sturm, Marc
Schüle, Rebecca
Schöls, Ludger
Haack, Tobias B.
Synofzik, Matthis
author_facet Fleszar, Zofia
Dufke, Claudia
Sturm, Marc
Schüle, Rebecca
Schöls, Ludger
Haack, Tobias B.
Synofzik, Matthis
author_sort Fleszar, Zofia
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spelling pubmed-103450272023-07-15 Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia Fleszar, Zofia Dufke, Claudia Sturm, Marc Schüle, Rebecca Schöls, Ludger Haack, Tobias B. Synofzik, Matthis J Neurol Letter to the Editors Springer Berlin Heidelberg 2023-04-29 2023 /pmc/articles/PMC10345027/ /pubmed/37119371 http://dx.doi.org/10.1007/s00415-023-11745-8 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Letter to the Editors
Fleszar, Zofia
Dufke, Claudia
Sturm, Marc
Schüle, Rebecca
Schöls, Ludger
Haack, Tobias B.
Synofzik, Matthis
Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
title Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
title_full Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
title_fullStr Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
title_full_unstemmed Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
title_short Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
title_sort short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical friedreich ataxia
topic Letter to the Editors
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345027/
https://www.ncbi.nlm.nih.gov/pubmed/37119371
http://dx.doi.org/10.1007/s00415-023-11745-8
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