Adnan Y. Manzur

Great Ormond Street Hospital Biomedical Research Centre
London, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 103 publications

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.

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.

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

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Journal: Human mutation

Published: May 04, 2026

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Journal: Neurology. Genetics

Published: September 26, 2025

Joint Modelling of Growth and Motor Function Centiles in Corticosteroids Treated Boys With Duchenne Muscular Dystrophy.

Joint Modelling of Growth and Motor Function Centiles in Corticosteroids Treated Boys With Duchenne Muscular Dystrophy.

Journal: European journal of neurology

Published: June 10, 2025

Fully personalized modelling of Duchenne Muscular Dystrophy ambulation.

Fully personalized modelling of Duchenne Muscular Dystrophy ambulation.

Journal: Philosophical transactions. Series A, Mathematical, physical, and engineering sciences

Published: April 02, 2025

Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy.

Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy.

Journal: Journal of neuromuscular diseases

Published: March 18, 2025

Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy.

Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy.

Journal: PloS one

Published: February 05, 2025

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study.

Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study.

Journal: BMJ open

Published: January 22, 2025

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Journal: The Lancet. Neurology

Published: January 07, 2025

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Journal: Neuromuscular disorders : NMD

Published: January 05, 2025

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.

Journal: European journal of neurology

Published: November 08, 2024

Showing 1-12 of 103

Last Updated: 09/26/2026