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Francesco Muntoni

University College London

United Kingdom

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Research Interests

Clinical Nutrition

30%

Clinical Psychology

20%

Muscular Atrophy

50%

Neuromuscular Disorders

20%

Neurodegenerative Disease

20%

Medical Science

20%

Musculoskeletal Therapy

20%

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Articles21

Regional Expression of Dystrophin Gene Transcripts and Proteins in the Mouse Brain

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Year:

2025

Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation

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Year:

2025

Clinical applications of exon-skipping antisense oligonucleotides in neuromuscular diseases

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Year:

2025

MRC Centre for Neuromuscular Diseases Biobank London: its role in the advancement of rare and neuromuscular diseases research

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Year:

2025

Duchenne muscular dystrophy: recent insights in brain related comorbidities

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Year:

2025

AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial

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Year:

2025

Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids

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Year:

2024

Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing

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Year:

2024

Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study

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Year:

2024

AAV gene therapy for Duchenne Muscular Dystrophy: lessons learned from a phase 3 trial

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Year:

2024

The UCMD-Causing COL6A1 ( c . 930 + 189 C > T ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains

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Year:

2023

Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

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Year:

2023

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

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Year:

2023

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis

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Year:

2023

DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy

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Year:

2023

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

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Year:

2023

269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy – What have we learned? 9–11 December 2022, Hoofddorp, The Netherlands

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Year:

2023

Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement

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Year:

2022

Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling

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Year:

2022

Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy

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Year:

2022

Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial

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Year:

2022

Collaborators13

Francesco Saverio Tedesco

Professor of Neuromuscular Biology and Regenerative Medicine

University College London

UNITED KINGDOM

Jennifer Morgan

University College London

UNITED KINGDOM

EFTERPI PAVLIDOU

Assistant Professor of Pediatrics

University of Ioannina

GREECE

NAIRA NAOUAR

Sorbonne Université

FRANCE

Danielle Ramsey

Senior Lecturer in Physiotherapy

University of Suffolk

UNITED KINGDOM

Giovanni Baranello

Prof.

University College London

UNITED KINGDOM

Raimund Wagener

University of Cologne

GERMANY

Elmar Behrmann

Professor for Structural Biochemistry

University of Cologne

GERMANY

Haiyan Zhou

University College London

UNITED KINGDOM

Erik H. Niks

Leiden University Medical Center

NETHERLANDS

Christine Wells

University of Melbourne

AUSTRALIA

Heather Gordish-Dressman

George Washington University

UNITED STATES

nathalie goemans

associate professor- Emeritus

Katholieke Universiteit Leuven

BELGIUM

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