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Muscular dystrophies

The Lancet (British edition), 2013-03, Vol.381 (9869), p.845-860

2013

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Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

Nature reviews. Neurology, 2018-03, Vol.14 (3), p.151-167

2018

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The ever-expanding spectrum of congenital muscular dystrophies

Annals of neurology, 2012-07, Vol.72 (1), p.9-17

2012

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209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

Neuromuscular disorders : NMD, 2015-07, Vol.25 (7), p.593-602

2015

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RNA-targeted drugs for neuromuscular diseases

Science (American Association for the Advancement of Science), 2021-01, Vol.371 (6524), p.29-31

2021

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Lancet Commission: Stem cells and regenerative medicine

The Lancet (British edition), 2018-03, Vol.391 (10123), p.883-910

2018

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Development of a novel startle response task in Duchenne muscular dystrophy

PloS one, 2022-04, Vol.17 (4), p.e0264091-e0264091

2022

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Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

Molecules (Basel, Switzerland), 2017-04, Vol.22 (4), p.563

2017

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Dystrophin and mutations: one gene, several proteins, multiple phenotypes

Lancet neurology, 2003-12, Vol.2 (12), p.731-740

2003

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Necroptosis mediates myofibre death in dystrophin-deficient mice

Nature communications, 2018-09, Vol.9 (1), p.3655-10, Article 3655

2018

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Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Nature communications, 2017-11, Vol.8 (1), p.1859-8, Article 1859

2017

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Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (39), p.10962-10967

2016

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Revised upper limb module for spinal muscular atrophy: Development of a new module

Muscle & nerve, 2017-06, Vol.55 (6), p.869-874

2017

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Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues

Nucleic acid therapeutics, 2017-10, Vol.27 (5), p.251-259

2017

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Adeno-associated virus (AAV) gene therapy in muscular dystrophies

Journal of the neurological sciences, 2023-12, Vol.455, p.121040, Article 121040

Muntoni, Francesco

2023

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Diagnostic approach to the congenital muscular dystrophies

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311

2014

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Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy

Scientific reports, 2024-10, Vol.14 (1), p.23491-9, Article 23491

2024

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JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment- naïve patients with spinal muscular atrophy (SMA)

Journal of neurology, neurosurgery and psychiatry, 2023-11, Vol.94 (Suppl 1), p.A57-A58

2023

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Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Journal of magnetic resonance imaging, 2007-02, Vol.25 (2), p.433-440

2007

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LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Frontiers in molecular neuroscience, 2020-08, Vol.13, p.123-123

2020

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The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al

Journal of cachexia, sarcopenia and muscle, 2020-10, Vol.11 (5), p.1379-1380

2020

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Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation

Frontiers in genetics, 2021-12, Vol.12, p.759994-759994

2021

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Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

PloS one, 2019-09, Vol.14 (9), p.e0221097-e0221097

2019

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Muscular dystrophies

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction

The ever-expanding spectrum of congenital muscular dystrophies

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

RNA-targeted drugs for neuromuscular diseases

Lancet Commission: Stem cells and regenerative medicine

Development of a novel startle response task in Duchenne muscular dystrophy

Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

Necroptosis mediates myofibre death in dystrophin-deficient mice

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

Revised upper limb module for spinal muscular atrophy: Development of a new module

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

Adeno-associated virus (AAV) gene therapy in muscular dystrophies

Diagnostic approach to the congenital muscular dystrophies

Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy

JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment- naïve patients with spinal muscular atrophy (SMA)

Muscle MRI in inherited neuromuscular disorders: Past, present, and future

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al

Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

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