Publications by authors named "Evan Reid"

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Protrudin acts at ER-endosome contacts to promote KIF5-mediated endosomal tubule fission.
Julia Kleniuk, Aishwarya G Nadadhur, Catherine Rodger, Emily Wolfenden, Isabelle A Hall, Evan Reid

Neurobiol Dis· December 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Evan Reid

Genome Res· April 2025

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Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons.
Eliska Zlamalova, Catherine Rodger, Francesca Greco, Samuel R Cheers, Julia Kleniuk, Evan Reid

Neurobiol Dis· September 2024

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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Evan Reid

medRxiv· May 2024

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Alba Sanchis-Juan, Karyn Megy, Jonathan Stephens, Camila Armirola Ricaurte, Eleanor Dewhurst, Evan Reid

Am J Hum Genet· August 2023

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Ataxia and spastic paraplegia in mitochondrial disease.
Matthis Synofzik, Elena Rugarli, Evan Reid, Rebecca Schüle

Handb Clin Neurol· February 2023

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AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network.
Piyali Majumder, Daisy Edmison, Catherine Rodger, Sruchi Patel, Evan Reid

Mol Biol Cell· October 2022

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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J Guillen Sacoto, Francisca Milan Zamora, Evan Reid

Am J Med Genet A· November 2021

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[C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease.
Jelle van den Ameele, Young T Hong, Roido Manavaki, Antonina Kouli, Heather Biggs, Evan Reid

Neurology· May 2021

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Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in .
Neil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, Graeme R Clark, Diana Walsh, Evan Reid

Brain Commun· January 2021

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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Evan Reid

Eur J Hum Genet· December 2020

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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Catherine Rodger, Elisabetta Flex, Rachel J Allison, Alba Sanchis-Juan, Marcia A Hasenahuer, Evan Reid

Am J Hum Genet· December 2020

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Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS.
Veselina Petrova, Craig S Pearson, Jared Ching, James R Tribble, Andrea G Solano, Evan Reid

Nat Commun· November 2020

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ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic.
James W Connell, Rachel J Allison, Catherine E Rodger, Guy Pearson, Eliska Zlamalova, Evan Reid

Cell Mol Life Sci· July 2020

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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
Samuel Shribman, Evan Reid, Andrew H Crosby, Henry Houlden, Thomas T Warner

Lancet Neurol· December 2019

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Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.
Rachel Allison, James R Edgar, Evan Reid

Front Neurosci· November 2019

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BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation.
Nicolas Jardin, François Giudicelli, Daniel Ten Martín, Anaïs Vitrac, Stéphanie De Gois, Evan Reid

Development· September 2018

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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Timothy Newton, Rachel Allison, James R Edgar, Jennifer H Lumb, Catherine E Rodger, Evan Reid

Brain· May 2018

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An Automated Image Analysis System to Quantify Endosomal Tubulation.
Timothy M Newton, Evan Reid

PLoS One· July 2017

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Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.
Rachel Allison, James R Edgar, Guy Pearson, Tania Rizo, Timothy Newton, Evan Reid

J Cell Biol· May 2017

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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
John Y W Lee, Chao-Kai Hsu, Magdalene Michael, Arti Nanda, Lu Liu, Evan Reid

Am J Hum Genet· February 2017

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Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin.
James W Connell, Rachel Allison, Evan Reid

PLoS One· August 2016

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Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.
Anke Hensiek, Stephen Kirker, Evan Reid

J Neurol· July 2015

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An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.
Rachel Allison, Jennifer H Lumb, Coralie Fassier, James W Connell, Daniel Ten Martin, Evan Reid

J Cell Biol· August 2013

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The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
Caroline Freeman, Matthew N J Seaman, Evan Reid

Biochim Biophys Acta· January 2013

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