Evidence of mosaicism in SPAST variant carriers in four French families-Reference-Cited by-同舟云学术

Evidence of mosaicism in SPAST variant carriers in four French families

Published:2021-05-06 Issue:7 Volume:29 Page:1158-1163
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Angelini Chloé^ORCID,Goizet Cyril,Said Samia Ait,Camu William^ORCID,Depienne Christel^ORCID,Heron Bénédicte,Kol Bophara,Guillaud-Bataille Marine,Pennamen Perrine^ORCID,Rooryck Caroline,Scherer-Gagou Clarisse,Tissier Laurène,Stevanin Giovanni^ORCID,Leguern Eric,Banneau Guillaume

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-021-00847-4.pdf

Reference19 articles.

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3. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014;261:518–39. 1

4. Fonknechten N, Mavel D, Byrne P, Davoine C-S, Cruaud C, Boentsch D, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet. 2000;9:637–44. 1

5. Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet. 2006;43:259–65.

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1. A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province;Annals of Translational Medicine;2022-01

2. Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview;Frontiers in Molecular Biosciences;2021-11-26

3. Clinical genetics—it’s polygenic;European Journal of Human Genetics;2021-07