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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
TLDR
These recommendations provide a framework for recognising the multisystem primary manifestations and secondary complications of DMD and for providing coordinated multidisciplinary care. Expand
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care
TLDR
A comprehensive set of DMD care recommendations for management of rehabilitation, orthopaedic, respiratory, cardiovascular, gastroenterology/nutrition, and pain issues, as well as general surgical and emergency-room precautions are presented. Expand
Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy
TLDR
Those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group and infants with a shorter disease duration at screening wereMore likely than those with a longer disease duration to benefit from nusineren. Expand
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
TLDR
It is the authors' intention that this document be used as a guideline, not as a practice standard for spinal muscular atrophy patients, because of the high level of uncertainty in these patients' care. Expand
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
TLDR
Analysis of autopsy tissue from patients exposed to nusinersen showed drug uptake into motor neurons throughout the spinal cord and neurons and other cell types in the brainstem and other brain regions, exposure at therapeutic concentrations, and increased SMN2 mRNA exon 7 inclusion and SMN protein concentrations in the spinal Cord. Expand
Nusinersen versus Sham Control in Later‐Onset Spinal Muscular Atrophy
TLDR
Among children with later‐onset SMA, those who received nusinersen had significant and clinically meaningful improvement in motor function as compared with those in the control group. Expand
Agalsidase-Beta Therapy for Advanced Fabry Disease
TLDR
The objective was to evaluate the effect of agalsidase beta on disease progression by a time-to-event analysis of renal, cerebrovascular, and cardiac events or death in patients with advanced Fabry disease in a placebo-controlled trial. Expand
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
TLDR
The expanded Hammersmith Functional Motor Scale allows assessment of high functioning SMA type II and III patients and justification with established motor function measures justify use in future SMA clinical trials. Expand
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
TLDR
It is indicated that, irrespective of crossreactive immunologic material status, patients with infantile Pompe disease with high sustained antibody titer have an attenuated therapeutic response to enzyme replacement therapy. Expand
Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort
TLDR
D Duchenne muscular dystrophy disease progression in the lower extremity muscles over 12 months is described using quantitative magnetic resonance (MR) biomarkers, collected across three sites in a large cohort. Expand
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