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Search results (309)

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Emerging Therapies for Angelman Syndrome.

Tychon C. et al, (2026), CNS Drugs

Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial.

Mazurkiewicz-Bełdzińska M. et al, (2026), Lancet Child Adolesc Health

First-Tier Genomic Newborn Screening at Population Scale: End-of-Study Outcomes and the Dominant Cardiomyopathy Reporting Dilemma – The BabyDetect Experience

Hovhannesyan K. et al, (2026)

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

Genomic newborn screening for actionable, sight-threatening eye diseases.

Bartoszek P. et al, (2026), Can J Ophthalmol

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

Broad lessons from negative trials in rare diseases.

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

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

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

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