James M. Polke

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

Journal: medRxiv : the preprint server for health sciences

Published: July 02, 2026

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

Journal: medRxiv : the preprint server for health sciences

Published: July 02, 2026

Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?

Journal: Journal of Huntington's disease

Published: December 23, 2025

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

Journal: Journal of the peripheral nervous system : JPNS

Published: August 30, 2025

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

Journal: Neuromuscular disorders : NMD

Published: April 10, 2025

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.

Journal: Genes

Published: December 15, 2024

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.

Journal: Neurobiology of aging

Published: September 24, 2024

Repeat expansion disorders.

Journal: Practical neurology

Published: August 25, 2024

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Journal: The Journal of clinical investigation

Published: July 08, 2024

'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: June 27, 2024

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Journal: NPJ Parkinson's disease

Published: December 04, 2023

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

Journal: Brain : a journal of neurology

Published: November 09, 2023

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?

Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?

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

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

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.

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.

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.

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.

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.

Repeat expansion disorders.

Repeat expansion disorders.

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'.

'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'.

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

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

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

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.

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.