A5044520063- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Inflammatory Myopathies and Dermatomyositis
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Mosquito-borne diseases and control
- RNA modifications and cancer
- Virus-based gene therapy research
- Nuclear Structure and Function
- Viral Infections and Vectors
- Myasthenia Gravis and Thymoma
- Genomics and Rare Diseases
- Viral Infections and Outbreaks Research
- Hereditary Neurological Disorders
- Cellular transport and secretion
- Virology and Viral Diseases
- CRISPR and Genetic Engineering
- Dermatological and COVID-19 studies
- Autoimmune and Inflammatory Disorders
- Protein Tyrosine Phosphatases
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Cellular Mechanics and Interactions
- Genetics, Aging, and Longevity in Model Organisms
Nationwide Children's Hospital
2021-2025
The Ohio State University
2025
Mayo Clinic
2019-2024
Hennepin Healthcare Research Institute
2024
Northwestern University
2024
Centre for Biomedical Network Research on Rare Diseases
2023
Instituto de Salud Carlos III
2023
Nationwide Mutual Insurance Company (United States)
2023
Leibniz Institute for Analytical Sciences - ISAS
2023
Mayo Clinic in Arizona
2019-2021
Abstract The homeodomain transcription factor Pitx3 is critical for the survival of midbrain dopaminergic ( mDA ) neurons. Pitx3‐deficient mice exhibit severe but selective developmental loss neurons, with accompanying locomotor deficits resembling those seen in Parkinson's disease (PD) models. Here, we identify specific cell subpopulations that are consistently spared adult Pitx3‐hypomorphic (aphakia) mice, demonstrating not indiscriminately required by all neurons their survival. In...
Single exon duplications account for disease in a minority of Duchenne muscular dystrophy patients. Exon skipping these patients has the potential to be highly therapeutic through restoration full-length dystrophin expression. We conducted 48-week open label study casimersen and golodirsen 3 subjects with an 45 or 53 duplication. Two (aged 18 23 years) were non-ambulatory at baseline. Upper limb, pulmonary, cardiac function appeared stable 2 whom they could evaluated. Dystrophin expression...
To investigate the spectrum of undiagnosed congenital myopathies (CMs) in adults presenting to our neuromuscular clinic and identify pitfalls responsible for diagnostic delays.We conducted a retrospective review patients diagnosed with CM adulthood between 2008 2018. Patients an established diagnosis before age 18 years were excluded.We identified 26 adult-onset pediatric-onset who only adulthood. Among adult onset, median at onset was 47 years, causative genes RYR1 (11 families), MYH7 (3...
Immune-mediated necrotizing myopathy (IMNM) is an immune-mediated typically presenting with progressive subacute weakness and characteristic, but nonspecific, myopathological findings. Atypical cases however can mimic other inherited or acquired myopathies, depriving patients of treatment. We describe a cohort such patients.We retrospectively identified IMNM who either previously carried diagnosis established on clinicopathological grounds whose muscle biopsies displayed atypical features...
Duchenne muscular dystrophy is an X-linked disorder typically caused by out-of-frame mutations in the
Acquired sporadic late onset nemaline myopathy (SLONM) and inherited (iNM) both feature accumulation of rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction between these disorders therefore crucial when the diagnosis remains ambiguous after initial investigations. We sought identify biomarkers facilitating this investigate pathophysiology rod formation different disorders. Twenty-two samples from patients affected by or iNM underwent quantitative histological...
Abstract Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well advent a wide range genetic tests, patients continue to face delays diagnosis sometimes treatable disorders. These guidelines outline an approach testing such Initially, patient's phenotype is evaluated identify myopathies requiring directed testing, including myotonic dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal mitochondrial myopathies,...
Abstract Aims Dystrophin, the protein product of DMD gene, plays a critical role in muscle integrity by stabilising sarcolemma during contraction and relaxation. The gene is vulnerable to variety mutations that may cause complete loss, depletion or truncation protein, leading Duchenne Becker muscular dystrophies. Precise reproducible dystrophin quantification essential characterising evaluating outcome efforts induce through therapies. Immunofluorescence microscopy offers high sensitivity...
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common dystrophies and predominantly affects facial shoulder girdle muscles. Previous case reports cohort studies identified minor cardiac abnormalities in FSHD patients, but their nature frequency remain incompletely characterized. Methods: We reviewed cardiac, neurological genetic findings 104 patients with genetically confirmed FSHD. Results: The conduction abnormality was complete (7%) or incomplete (5%) right...
ABSTRACT Background Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentations. Heterozygous SPTAN1 are exemplary for this diversity with phenotypes spanning almost the entire spectrum. Methods Through international collaboration we identified 14 families genetically unsolved distal weakness unreported heterozygous...
To describe a novel subtype of autoimmune myopathy, immune-mediated megaconial myopathy (IMMM), myopathologically characterized by giant mitochondria (megaconia).