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Publications

Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.

Lilien C. et al, (2021), Ann Clin Transl Neurol

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.

Darras BT. et al, (2021), N Engl J Med, 385, 427 - 435

Therapies in preclinical and clinical development for Angelman syndrome.

Markati T. et al, (2021), Expert Opin Investig Drugs

Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy.

Amor F. et al, (2021), J Cachexia Sarcopenia Muscle

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.

Pini J. et al, (2021), J Neuromuscul Dis

Prognostic factors and treatment-effect modifiers in spinal muscular atrophy.

Baranello G. et al, (2021), Clin Pharmacol Ther

Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities.

Servais L. et al, (2021), Expert Opin Investig Drugs

Risdiplam in Type 1 Spinal Muscular Atrophy.

Baranello G. et al, (2021), N Engl J Med, 384, 915 - 923

Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.

Walter MC. et al, (2021), J Neuromuscul Dis

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.

Beckers P. et al, (2021), Sci Rep, 11

Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.

Dangouloff T. et al, (2021), Orphanet J Rare Dis, 16

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

Gangfuss A. et al, (2021), J Neuromuscul Dis, 8, 79 - 90

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Dangouloff T. et al, (2021), Neuromuscular Disorders

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

Coratti G. et al, (2021), PLoS One, 16

Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.

Duong T. et al, (2021), J Neuromuscul Dis, 8, 63 - 77

Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.

Annoussamy M. et al, (2020), Ann Clin Transl Neurol

Response to letter: A decision for life - Treatment decisions in newly diagnosed families with spinal muscular atrophy.

Kirschner J. et al, (2020), Eur J Paediatr Neurol, 30, 103 - 104

Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases.

Reyngoudt H. et al, (2020), Eur Radiol

Very low residual dystrophin quantity is associated with milder dystrophinopathy.

de Feraudy Y. et al, (2020), Ann Neurol

Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy

Catapano F. et al, (2020), Epigenomics, 12, 1899 - 1915

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