UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes-Reference-Cited by-同舟云学术

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

Published:2019-09-12 Issue:11 Volume:64 Page:1055-1065
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Nan Haitian,Ichinose Yuta,Tanaka Masaki,Koh Kishin,Ishiura Hiroyuki^ORCID,Mitsui Jun,Mizukami Heisuke,Morimoto Masafumi,Hamada Shun,Ohtsuka Toshihisa,Tsuji Shoji^ORCID,Takiyama Yoshihisa

Funder

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0670-9.pdf

Reference41 articles.

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983;1:1151–5.

2. Tesson C, Koht J, Stevanin G. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet. 2015;134:511–38.

3. Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci. 2012;318:1–18.

4. Ruano L, Melo C, Silva MC, Coutinho P. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42:174–83.

5. Klebe S, Stevanin G. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol. 2015;171:505–30.

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