Roy Poh

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 16 publications

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 30, 2025

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: May 20, 2025

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

Journal: Neuromuscular disorders : NMD

Published: April 10, 2025

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Journal: Brain : a journal of neurology

Published: November 09, 2023

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

Journal: Journal of the peripheral nervous system : JPNS

Published: October 31, 2023

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

Journal: European journal of neurology

Published: May 25, 2023

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Journal: Brain : a journal of neurology

Published: February 20, 2023

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.

Journal: Brain : a journal of neurology

Published: February 06, 2023

Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.

Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 30, 2022

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: May 24, 2021

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Journal: Investigative ophthalmology & visual science

Published: May 03, 2021

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Journal: Neurology

Published: March 14, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026