Cheryl F. Longman

Glasgow, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 43 publications

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

Journal: Journal of molecular and cellular cardiology

Published: March 13, 2026

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Journal: Neuromuscular disorders : NMD

Published: June 27, 2025

Response to Eamon P McCarron: Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: the Northern Ireland experience.

Response to Eamon P McCarron: Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: the Northern Ireland experience.

Journal: Neuromuscular disorders : NMD

Published: April 07, 2025

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.

Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.

Journal: Neuromuscular disorders : NMD

Published: December 20, 2024

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 15, 2024

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

Journal: medRxiv : the preprint server for health sciences

Published: October 07, 2024

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.

Journal: Journal of neuromuscular diseases

Published: December 18, 2023

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

Journal: Neuromuscular disorders : NMD

Published: March 19, 2023

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Journal: Neurology. Genetics

Published: March 01, 2023

Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.

Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.

Journal: Science signaling

Published: September 27, 2022

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Journal: Journal of neuromuscular diseases

Published: September 04, 2022

Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.

Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.

Journal: Neuromuscular disorders : NMD

Published: February 24, 2022

Showing 1-12 of 43

Last Updated: 09/26/2026