Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect
Journal article
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.
Journal article
Fisher G. et al, (2022), Expert Opin Ther Targets
Growth pattern trajectories in boys with Duchenne muscular dystrophy
Journal article
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.
Journal article
Le Goff L. et al, (2022), Neurol Sci
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
Journal article
Tizzano EF. et al, (2022), J Neuromuscul Dis
The ethics of crowdfunding in paediatric neurology.
Journal article
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.
Journal article
Masson R. et al, (2022), Lancet Neurol
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Journal article
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.
Journal article
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.
Journal article
Horton RH. et al, (2022), J Neurol Neurosurg Psychiatry
Emerging therapies for Duchenne muscular dystrophy.
Journal article
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.
Journal article
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.
Journal article
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.
Journal article
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.
Journal article
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.
Journal article
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.
Journal article
Dowling JJ. et al, (2022), J Neuromuscul Dis
Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.
Journal article
McMillan HJ. et al, (2022), Expert Opin Biol Ther
Risdiplam: an investigational motor neuron-2 (SMN-2) splicing modifier for spinal muscular atrophy (SMA).
Journal article
Markati T. et al, (2022), Expert opinion on investigational drugs
Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen.
Journal article
Menard J. et al, (2022), Pediatric pulmonology