VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

BACKGROUND: Alterations of vacuolar protein sorting‐associated protein 13 (VPS13) family members including VPS13A, VPS13B, and VPS13C lead to chorea acanthocytosis, Cohen syndrome, and parkinsonism, respectively. Recently, VPS13D mutations were identified as a cause of VPS13D‐related movement disord...

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Detalles Bibliográficos
Autores principales: Koh, Kishin, Ishiura, Hiroyuki, Shimazaki, Haruo, Tsutsumiuchi, Michiko, Ichinose, Yuta, Nan, Haitian, Hamada, Shun, Ohtsuka, Toshihisa, Tsuji, Shoji, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057107/
https://www.ncbi.nlm.nih.gov/pubmed/31876103
http://dx.doi.org/10.1002/mgg3.1108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057107/
https://www.ncbi.nlm.nih.gov/pubmed/31876103
http://dx.doi.org/10.1002/mgg3.1108

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