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Publications

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.

Shieh PB. et al, (2023), Lancet Neurol, 22, 1125 - 1139

Clinical and genetic features of patients suffering from CMT4J.

Beloribi-Djefaflia S. et al, (2023), J Neurol

Titin copy number variations associated with dominant inherited phenotypes.

Perrin A. et al, (2023), J Med Genet

261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands.

Servais L. et al, (2023), Neuromuscul Disord

First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD.

Servais L. et al, (2023), Nat Med, 29, 2391 - 2392

Spinal Muscular Atrophy.

Oskoui M. and Servais L., (2023), Continuum (Minneap Minn), 29, 1564 - 1584

Tamoxifen in children with Duchenne muscular dystrophy.

Servais L., (2023), Lancet Neurol, 22, 872 - 873

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.

Proud CM. et al, (2023), Ann Clin Transl Neurol

Newborn screening for spinal muscular atrophy - what have we learned?

De Siqueira Carvalho AA. et al, (2023), Expert Rev Neurother, 1 - 8

Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews.

Rogers M. et al, (2023), Children (Basel), 10

The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review.

Poleur M. et al, (2023), Orphanet J Rare Dis, 18

Universal newborn screening for spinal muscular atrophy in Ukraine.

Olkhovych N. et al, (2023), Lancet, 402, 288 - 289

Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.

Aragon-Gawinska K. et al, (2023), Genes (Basel), 14

Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review.

Hustinx M. et al, (2023), Pharmaceutics, 15

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.

Weidlich D. et al, (2023), Neurol Ther

Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA).

Oskoui M. et al, (2023), J Neurol

TOR1AIP1-Associated Nuclear Envelopathies.

Mackels L. et al, (2023), Int J Mol Sci, 24

Quantitative measures of motor development in Angelman syndrome.

Duis J. et al, (2023), Am J Med Genet A

Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy

Gupta VA. et al, (2023), PLoS ONE, 18

Evolving regulatory perspectives on digital health technologies for medicinal product development.

Colloud S. et al, (2023), NPJ Digit Med, 6

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