Publications by authors named "Simon A Lowe"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Simon A Lowe

J Clin Invest· December 2025

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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Jose A Rodriguez, Annarita Scardamaglia, Simon A Lowe

medRxiv· July 2025

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Modulation of a critical period for motor development in Drosophila by BK potassium channels.
Simon A Lowe, Abigail D Wilson, Gabriel N Aughey, Animesh Banerjee, Talya Goble

Curr Biol· August 2024

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Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.
Patrick Kratschmer, Simon A Lowe, Edgar Buhl, Ko-Fan Chen, Dimitri M Kullmann

Mov Disord· May 2021

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Neuronal overexpression of Alzheimer's disease and Down's syndrome associated DYRK1A/minibrain gene alters motor decline, neurodegeneration and synaptic plasticity in Drosophila.
Simon A Lowe, Maria M Usowicz, James J L Hodge

Neurobiol Dis· May 2019

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A third copy of the Down syndrome cell adhesion molecule (Dscam) causes synaptic and locomotor dysfunction in Drosophila.
Simon A Lowe, James J L Hodge, Maria M Usowicz

Neurobiol Dis· February 2018

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Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.
Roman Praschberger, Simon A Lowe, Nancy T Malintan, Carlo N G Giachello, Nian Patel

Cell Rep· October 2017

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