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Search results (305)

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

McDonald CM. et al, (2026), Neurology, 106

Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing.

Smith HS. et al, (2026), Eur J Hum Genet

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Cicala G. et al, (2026), EClinicalMedicine, 95

Corrigendum to "Learnings from a registry-based cohort study for spinal muscular atrophy disease" [Neuromuscular Disorders, Volume 59, February 2026, 106332].

Jonker CJ. et al, (2026), Neuromuscul Disord

Stride-level measurement of gait as an early sensitive marker of disability progression in ambulatory patients with multiple sclerosis.

Poleur M. et al, (2026), EClinicalMedicine, 93

Advancing treatment of spinal muscular atrophy through inhibition of the myostatin signaling pathway.

Finkel RS. et al, (2026), Expert Rev Neurother, 26, 211 - 225

Broad lessons from negative trials in rare diseases.

Servais L. and Oskoui M., (2026), Lancet Neurol, 25, 215 - 217

A combined genomic and functional approach to One-Carbon Metabolism disorders in a population-based newborn screening

Gernez E. et al, (2026)

A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy.

Crawford TO. et al, (2026), Expert Rev Neurother, 26, 101 - 120

2025 for neuromuscular diseases: a year of multiple advances.

Servais L., (2026), Lancet Neurol, 25, 22 - 24

Real-world walking speed as a digital biomarker and outcome measure for clinical trials-a systematic review, regulatory status and future directions.

Poleur M. et al, (2026), Front Digit Health, 8

Digital outcome measures in Duchenne muscular dystrophy: Lessons learnt from clinical trials.

González Barral C. and Servais L., (2026), J Neuromuscul Dis, 13, 77 - 85

Re-evaluating acceptable risk of death from gene therapy: A threshold study among individuals with Duchenne muscular dystrophy and their caregivers in the US and UK.

Peay H. et al, (2025), Eur J Med Genet, 78

Genomic Newborn Screening-A Long Road From Pilot to Public Policy.

Boemer F. and Servais L., (2025), JAMA Pediatr, 179, 1255 - 1256

Wearable inertial device for monitoring Parkinson's disease symptoms: a pilot study in a controlled environment.

Poleur M. et al, (2025), Sci Rep, 15

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