Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants-Reference-Cited by-同舟云学术

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Published:2019-07-13 Issue:11 Volume:266 Page:2657-2664
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Nicita Francesco^ORCID,Stregapede Fabrizia,Tessa Alessandra,Bassi Maria Teresa,Jezela-Stanek Aleksandra,Primiano Guido,Pizzuti Antonio,Barghigiani Melissa,Nardella Marta,Zanni Ginevra,Servidei Serenella,Astrea Guja,Panzeri Elena,Maghini Cristina,Losito Luciana,Ploski Rafal,Gasperowicz Piotr,Santorelli Filippo Maria,Bertini Enrico,Travaglini Lorena

Funder

Ministero dell’Istruzione, dell’Università e della Ricerca

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-019-09466-y.pdf

Reference16 articles.

1. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A (2014) Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 261:518–539

2. Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ et al (2012) Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 91(6):1073–1081