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Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.

作者信息

Kaiyrzhanov Rauan, Wortmann Saskia, Reid Taryn, Dehghani Mohammadreza, Vahidi Mehrjardi Mohammad Yahya, Alhaddad Bader, Wagner Matias, Deschauer Marcus, Cordts Isabell, Fernandez-Murray J Pedro, Treffer Veronika, Metanat Zahra, Pitman Alan, Houlden Henry, Meitinger Thomas, Carroll Christopher, McMaster Christopher R, Maroofian Reza

机构信息

Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.

Institute of Human Genetics, Technical University Munich, Munich, Germany.

出版信息

Brain. 2021 Apr 12;144(3):e30. doi: 10.1093/brain/awaa442.

DOI:10.1093/brain/awaa442
PMID:33454747
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8041042/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deaa/8041042/5a6a4ac43b88/awaa442f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deaa/8041042/5a6a4ac43b88/awaa442f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/deaa/8041042/5a6a4ac43b88/awaa442f1.jpg

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J Mov Disord. 2025 Apr;18(2):185-189. doi: 10.14802/jmd.24259. Epub 2025 Jan 31.
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