Clinical and pathogenic themes in hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Clinical and pathogenic themes in hereditary spastic paraplegia

Published:2020-10-01 Issue:10 Volume:143 Page:2864-2866
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Warner Thomas T¹

Affiliation:

1. Reta Lila Weston Institute, UCL QueenSquare Institute of Neurology, London, UK

Abstract

This scientific commentary refers to ‘Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia’, by Ebrahimi-Fakhari etal. (doi:10.1093/brain/awz307).

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/143/10/2864/34032414/awaa278.pdf

Reference9 articles.

1. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking;Behne;Hum Mol Genet,2020

2. Converging cellular themes for the hereditary spastic paraplegias;Blackstone;Curr Opin Neurobiol,2018

3. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism;Ebrahimi-Fakhari;Brain,2016

4. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia;Ebrahimi-Fakhari;Brain,2020

5. Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease;Hirst;Hum Mol Genet,2015

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1. Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations;BMC Neurology;2022-05-16

2. A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature;neurogenetics;2022-01-18

3. A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene;Case Reports in Genetics;2021-12-14