Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research interests include Genetic Neurodegenerative Diseases, Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, and Biochemical and Molecular Research.
Current clinical applications of AAV-mediated gene therapy
The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1
Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
PCR87 Impact of Signs and Symptoms of Chronic Refractory Gout on Patient Health-Related Quality of Life
Randomized phase 2 study of<scp>ACE</scp>‐083, a<scp>muscle‐promoting</scp>agent, in facioscapulohumeral muscular dystrophy
Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non‐ambulatory males with Duchenne muscular dystrophy from <scp>MD STAR<i>net</i></scp>
Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program
p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Association of genetic mutations and loss of ambulation in childhood‐onset dystrophinopathy
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most
Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA)
The <scp>C</scp>harcot–<scp>M</scp>arie–<scp>T</scp>ooth <scp>H</scp>ealth <scp>I</scp>ndex: Evaluation of a Patient‐Reported Outcome
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy
Myotonic dystrophy patient preferences in patient‐reported outcome measures
Review of the Diagnosis and Treatment of Periodic Paralysis
Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation–Sponsored Workshop
Management of Charcot&ndash;Marie&ndash;Tooth disease: improving long-term care with a multidisciplinary approach
A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy
The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study
Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2)
Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy
Myotonic dystrophy health index: Correlations with clinical tests and patient function
Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective
Myotonic Dystrophy Health Index: Initial evaluation of a disease‐specific outcome measure