Objective: To evaluate the relationship between clinical outcome assessments (COAs) and disease severity in a cross-sectional sample of patients with limb girdle muscular dystrophy R1 […]
Mononucleate cells residing in skeletal muscle regulate the functionality of multinucleated myofibers at rest and following injury. Mononucleate mesenchymal stem cells (MeSCs) are postnatal stem […]
Background: Nusinersen 12 mg (approved dose) has demonstrated a positive benefit–risk profile in infants, children, teenagers, and adults with SMA. Pharmacokinetic/pharmacodynamic modeling indicates higher dose […]
Objective: SMA experts on deglutition, respiratory function, physical therapy, nutrition, and neurology, and Novartis Gene Therapies staff, conducted post-hoc analyses of pooled data from one […]
Background: Onasemnogene abeparvovec is an adeno-associated viral (AAV) vector gene therapy for SMA in children age <2 years. Preclinical animal models and limited human postmortem […]
OBJECTIVE To describe our approach using a 14-gauge disposable core biopsy to collect muscle tissue. BACKGROUND Muscle biopsy is a routinely used for both clinical […]
Background: Valosin containing protein-associated multisystem proteinopathy (VCP-MSP), also known as inclusion body myopathy with Paget’s Disease of the bone and frontotemporal dementia (IBMPFD), is a […]
Background: Intravenous (IV) edaravone was approved by the US Food and Drug Administration (FDA) in May 2017 for the treatment of amyotrophic lateral sclerosis (ALS) […]
"Background: Spinocerebellar ataxias (SCA) are neurodegenerative disorders resulting from degeneration of the cerebellum. Ataxia rating scales are the preferred method to use in clinical trials. […]