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From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.

作者信息

Erro Roberto, Picillo Marina, Manara Renzo, Pellecchia Maria Teresa, Barone Paolo

机构信息

Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi, SA, Italy.

Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Baronissi, SA, Italy.

出版信息

Parkinsonism Relat Disord. 2019 Aug;65:272-273. doi: 10.1016/j.parkreldis.2019.05.025. Epub 2019 May 23.

DOI:10.1016/j.parkreldis.2019.05.025
PMID:31151786
Abstract
摘要

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Identification of a novel mutation in associated with a complicated form of hereditary spastic paraplegia.
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Neurol Genet. 2020 Sep 8;6(5):e514. doi: 10.1212/NXG.0000000000000514. eCollection 2020 Oct.
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Mol Genet Genomic Med. 2020 Mar;8(3):e1052. doi: 10.1002/mgg3.1052. Epub 2020 Jan 15.