Publications by authors named "James Polke"

Claim this Profile
B
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, James Polke

J Clin Invest· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?
Davina J Hensman Moss, Rhiannon Ireland, Guy Chapman, Rhona MacLeod, Robyn Labrum, James M Polke

J Huntingtons Dis· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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, James Polke

Neuromuscul Disord· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Repeat expansion disorders.
Zhongbo Chen, Huw R Morris, James Polke, Nicholas W Wood, Sonia Gandhi

Pract Neurol· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Corrigendum to: A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10 G>T at the intron 9/exon 10 of the MAPT gene.
Diana A Olszewska, Conor Fearon, Christopher McGuigan, Terri P McVeigh, Henry Houlden, James M Polke

Neurobiol Aging· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.
Clarissa Rocca, David Murphy, Chris Clarkson, Matteo Zanovello, Delia Gagliardi, James Polke

Genes (Basel)· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
'
'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'.
Dean Spencer, James Polke, Joanna Campbell, Henry Houlden, Aleksandar Radunovic

Amyotroph Lateral Scler Frontotemporal Degener· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
Clodagh Towns, Zih-Hua Fang, Manuela M X Tan, Simona Jasaityte, Theresa M Schmaderer, James Polke

NPJ Parkinsons Dis· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M Polke

Brain· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.
Pedro José Tomaselli, Julian Blake, James M Polke, Osvaldo José Moreira do Nascimento, Mary M Reilly

Eur J Neurol· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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, James Polke

J Peripher Nerv Syst· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, James Polke

Mov Disord· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
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, James Polke

Eur J Neurol· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Natalia Dominik, Stefania Magri, Riccardo Currò, Elena Abati, Stefano Facchini, James Polke

Brain· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
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, James M Polke

Brain· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
William L Macken, Micol Falabella, Chiara Pizzamiglio, Cathy E Woodward, Elizabeth Scotchman, James M Polke

Expert Rev Mol Diagn· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Stephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, Natalia Dominik, Benedetta Perrone, James M Polke

Biomolecules· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Matteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, James Polke

Brain· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L Alston, Cathy Woodward, James Polke

Eur J Hum Genet· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Plasma GFAP in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.
Antoinette O'Connor, Emily Abel, Andrea Lessa Benedet, Teresa Poole, Nicholas Ashton, James M Polke

J Neurol Neurosurg Psychiatry· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Truncating Variants in in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Riccardo Ronco, Cecilia Perini, Riccardo Currò, Natalia Dominik, Stefano Facchini, James Polke

Neurology· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko

Lancet Neurol· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis