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

J Neurol. 2023 Aug;270(8):4112-4117. doi: 10.1007/s00415-023-11745-8. Epub 2023 Apr 29.

Zofia Fleszar^{1

2}, Claudia Dufke³, Marc Sturm³, Rebecca Schüle^{1

2

4}, Ludger Schöls^{1

2

5}, Tobias B Haack^{3

5}, Matthis Synofzik^{6

7}

¹ Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
² German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
³ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
⁴ Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
⁵ Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
⁶ Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. matthis.synofzik@uni-tuebingen.de.
⁷ German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany. matthis.synofzik@uni-tuebingen.de.

No abstract available

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