Publications

Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect

Vincent-Genod D. et al, (2023), Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association, 35, 36 - 41

Early clinical and pre-clinical therapy development in Nemaline Myopathy.

Fisher G. et al, (2022), Expert Opin Ther Targets

Growth pattern trajectories in boys with Duchenne muscular dystrophy

Stimpson G. et al, (2022), Orphanet Journal of Rare Diseases, 17

Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

Le Goff L. et al, (2022), Neurol Sci

Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.

Tizzano EF. et al, (2022), J Neuromuscul Dis

The ethics of crowdfunding in paediatric neurology.

Livingstone A. et al, (2022), Dev Med Child Neurol

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.

Masson R. et al, (2022), Lancet Neurol

Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

Le Goff L. et al, (2022), Neurol Sci

Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine eligibility for clinical trials.

Bendor-Samuel OM. et al, (2022), Arch Dis Child

A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment.

Horton RH. et al, (2022), J Neurol Neurosurg Psychiatry

Emerging therapies for Duchenne muscular dystrophy.

Markati T. et al, (2022), Lancet Neurol

Risdiplam in Types 2 and 3 spinal muscular atrophy: a randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.

Mercuri E. et al, (2022), Eur J Neurol

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Labasse C. et al, (2022), Acta Neuropathol Commun, 10

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.

Strauss KA. et al, (2022), Nature medicine

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.

Strauss KA. et al, (2022), Nature medicine

Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.

Dangouloff T. et al, (2022), Dev Med Child Neurol

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.

Dowling JJ. et al, (2022), J Neuromuscul Dis

Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.

McMillan HJ. et al, (2022), Expert Opin Biol Ther

Risdiplam: an investigational motor neuron-2 (SMN-2) splicing modifier for spinal muscular atrophy (SMA).

Markati T. et al, (2022), Expert opinion on investigational drugs

Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen.

Menard J. et al, (2022), Pediatric pulmonology

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Publications