A5075844357- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- CRISPR and Genetic Engineering
- Virus-based gene therapy research
- Muscle Physiology and Disorders
- Kawasaki Disease and Coronary Complications
- Neurogenetic and Muscular Disorders Research
- Bacterial Infections and Vaccines
- Ubiquitin and proteasome pathways
- Long-Term Effects of COVID-19
Nationwide Children's Hospital
2023-2025
Massachusetts General Hospital
2023
Harvard University
2023
Brigham and Women's Hospital
2023
University of Massachusetts Chan Medical School
2023
Sleep-related symptoms in myotonic dystrophy type 1 (DM1) are often unrecognized. This study aimed to integrate two sleep questionnaires into an outpatient clinic for assessing disturbances DM1 patients, while also developing a pediatric version of one questionnaire. We administered adult and patients with DM1: (1) the Epworth Sleepiness Scale (ESS), which assesses likelihood falling asleep under specific circumstances; (2) Functional Outcomes Sleep Questionnaire-10 (FOSQ-10), evaluates...
Abstract Introduction/Aims Myotonic dystrophies (DMs) are autosomal dominant diseases in which expression of a mutant expanded repeat mRNA leads to abnormal splicing downstream effector genes thought be responsible for their multisystem involvement. Cancer risk and cancer‐related deaths increased DM patients relative the general population. We aimed at determining frequency type cancers both DM1 DM2 vs non‐DM muscular dystrophy cohort. Methods A retrospective, cross‐sectional study was...
The existence of clinical anticipation, congenital form, and parent-of-origin effect in myotonic dystrophy type 2 (DM2) remains uncertain. Here, we aimed at investigating whether there is a on the age first DM2-related manifestation.We identified patients with genetically confirmed DM2 known parental inheritance from (1) electronic medical records our institutions (2) systematic review literature following PRISMA 2020 guidelines recorded their disease-related symptom. We also interrogated...
We describe the case of a 13-year-old girl who presented with new-onset seizure and fever subsequently developed severe cardiac dysfunction, coronary artery dilation, shock due to surprising diagnosis multisystem inflammatory syndrome in children (MIS-C). Although clinical entity we now call MIS-C was first mentioned medical literature April 2020, full picture this disease process is still evolving. Neurologic involvement has been described cases MIS-C; however, seizures are not typical...
Building AAV vectors with type I myofiber specificity in a preclinical study on Nemaline myopathy.