Francesco Muntoni

UCL Great Ormond Street
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 523 publications

Evidence no longer matters: newborn screening in England.

Evidence no longer matters: newborn screening in England.

Journal: Lancet (London, England)

Published: July 29, 2026

289th ENMC international workshop: assessing and managing emerging AAV related toxicities after gene therapy for neuromuscular disorders, 26 - 28 September 2025, Hoofddorp, The Netherlands.

289th ENMC international workshop: assessing and managing emerging AAV related toxicities after gene therapy for neuromuscular disorders, 26 - 28 September 2025, Hoofddorp, The Netherlands.

Journal: Neuromuscular disorders : NMD

Published: July 10, 2026

Corrigendum to "The unmet need of psychopharmacological intervention for neuropsychiatric and neurodevelopmental comorbidities in Duchenne muscular dystrophy: report of 5 workshops" [Eur. J. Paediatr. Neurol. (2026) 61 84-89].

Corrigendum to "The unmet need of psychopharmacological intervention for neuropsychiatric and neurodevelopmental comorbidities in Duchenne muscular dystrophy: report of 5 workshops" [Eur. J. Paediatr. Neurol. (2026) 61 84-89].

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: June 06, 2026

Screening cognitive and academic problems in Duchenne Muscular Dystrophy: Validity and reliability of the Kempenhaeghe Learning Questionnaire.

Screening cognitive and academic problems in Duchenne Muscular Dystrophy: Validity and reliability of the Kempenhaeghe Learning Questionnaire.

Journal: Journal of neuromuscular diseases

Published: May 30, 2026

A Validated Prognostic Score for Time to Loss of Ambulation in Patients With Duchenne Muscular Dystrophy.

A Validated Prognostic Score for Time to Loss of Ambulation in Patients With Duchenne Muscular Dystrophy.

Journal: Neurology

Published: May 26, 2026

Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions.

Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions.

Journal: Nature reviews. Neurology

Published: May 26, 2026

Training Together, Diagnosing Better: Federated Learning for Collagen VI-Related Dystrophies.

Training Together, Diagnosing Better: Federated Learning for Collagen VI-Related Dystrophies.

Journal: ArXiv

Published: May 18, 2026

De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

Journal: American journal of medical genetics. Part A

Published: February 12, 2026

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

Journal: Annals of clinical and translational neurology

Published: February 04, 2026

Exploring psychosocial experiences in clinically stable generalised Myasthenia Gravis: A thematic analysis.

Exploring psychosocial experiences in clinically stable generalised Myasthenia Gravis: A thematic analysis.

Journal: Journal of neuromuscular diseases

Published: December 24, 2025

The unmet need of psychopharmacological intervention for neuropsychiatric and neurodevelopmental comorbidities in Duchenne muscular dystrophy: report of 5 workshops.

The unmet need of psychopharmacological intervention for neuropsychiatric and neurodevelopmental comorbidities in Duchenne muscular dystrophy: report of 5 workshops.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 21, 2025

Safety of in vivo gene therapy in children: mechanisms and management of liver injury.

Safety of in vivo gene therapy in children: mechanisms and management of liver injury.

Journal: The Lancet. Child & adolescent health

Published: November 04, 2025

Showing 1-12 of 523

Last Updated: 09/26/2026