Publications by authors named "Roy Poh"

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ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.
Saif Haddad, Roy Poh, Jason Hehir, James M Polke, Julian Blake

J Peripher Nerv Syst· December 2025

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ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.
Valentine Perrain, Christopher J Record, Mariola Skorupinska, Julian Blake, Joanna Campbell, Roy Poh

Neuromuscul Disord· August 2025

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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh

Brain· September 2024

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Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Helena F Pernice, Luke F O'Donnell, Alexander M Rossor, Matilde Laura, Christopher J Record, Roy Poh

J Peripher Nerv Syst· March 2024

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Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Andrea Cortese, Riccardo Currò, Riccardo Ronco, Julian Blake, Alex M Rossor, Roy Poh

Eur J Neurol· January 2024

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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Roy Poh

Brain· October 2023

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Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Menelaos Pipis, Seongsik Won, Roy Poh, Stephanie Efthymiou, James M Polke

Brain· October 2023

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Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.
Christopher J Record, Menelaos Pipis, Roy Poh, James M Polke, Mary M Reilly

J Neurol Neurosurg Psychiatry· April 2023

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Charcot-Marie-Tooth disease type 2CC due to variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Menelaos Pipis, Andrea Cortese, James M Polke, Roy Poh, Jana Vandrovcova

J Neurol Neurosurg Psychiatry· January 2022

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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Neringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, Jenny Higgs, Miodrag Vojcic, Roy Poh

Invest Ophthalmol Vis Sci· May 2021

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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Andrea Cortese, Janel E Wilcox, James M Polke, Roy Poh, Mariola Skorupinska

Neurology· January 2020

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Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
Flávio Moura Rezende Filho, Michael H Parkinson, José Luiz Pedroso, Roy Poh, Ingrid Faber

Parkinsonism Relat Disord· May 2019

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Genetic and clinical characteristics of -related Charcot-Marie-Tooth disease.
Alejandro Horga, Matilde Laurà, Zane Jaunmuktane, Nivedita U Jerath, Michael A Gonzalez, Roy Poh

J Neurol Neurosurg Psychiatry· July 2017

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Mutations in noncoding regions of are a major cause of X-linked CMT.
Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Zane Jaunmuktane, Aisling Carr, Roy Poh

Neurology· April 2017

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Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
Pedro J Tomaselli, Alexander M Rossor, James M Polke, Roy Poh, Julian Blake

J Peripher Nerv Syst· March 2016

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Structure and denaturation of 4-chlorobenzoyl coenzyme A dehalogenase from Arthrobacter sp. strain TM-1.
Lihong Zhou, Roy P C Poh, Trevor S Marks, Babur Z Chowdhry, Anthony R W Smith

Biodegradation· February 2008

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The purification and characterisation of 4-chlorobenzoate:CoA ligase and 4-chlorobenzoyl CoA dehalogenase from Arthrobacter sp. strain TM-1.
Lihong Zhou, Trevor S Marks, Roy P C Poh, Rodney J Smith, Babur Z Chowdhry

Biodegradation· April 2004

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