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Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy

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Main Authors: Danhauser, Katharina (Author) , Alhaddad, Bader (Author) , Makowski, Christine (Author) , Piekutowska-Abramczuk, Dorota (Author) , Syrbe, Steffen (Author) , Gomez-Ospina, Natalia (Author) , Manning, Melanie A. (Author) , Kostera-Pruszczyk, Anna (Author) , Krahn-Peper, Claudia (Author) , Berutti, Riccardo (Author)
Format: Article (Journal)
Language:English
Published: 1 November 2018
In: The American journal of human genetics
Year: 2018, Volume: 103, Issue: 5, Pages: 817-825
ISSN:1537-6605
DOI:10.1016/j.ajhg.2018.10.005
Online Access:Resolving-System, Volltext: https://doi.org/10.1016/j.ajhg.2018.10.005
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Author Notes:Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska-Abramczuk, Steffen Syrbe, Natalia Gomez-Ospina, Melanie A. Manning, Anna Kostera-Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Reka Kovács-Nagy, Mirjana Gusic, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M. Das, Eva Bültmann, Fang Fang, Manting Xu, Ulrich A. Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René G. Feichtinger, Johannes A. Mayr, Thomas Meitinger, Holger Prokisch, Tim M. Strom, Rafał Płoski, Georg F. Hoffmann, Maciej Pronicki, Penelope E. Bonnen, Susanne Morlot, and Tobias B. Haack
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Item Description:Gesehen am 06.12.2019
Physical Description:Online Resource
ISSN:1537-6605
DOI:10.1016/j.ajhg.2018.10.005

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