A5065761923- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Retinal and Optic Conditions
- Aldose Reductase and Taurine
- Ocular Diseases and Behçet’s Syndrome
- Muscle metabolism and nutrition
- Cerebral Venous Sinus Thrombosis
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Biotin and Related Studies
- RNA Research and Splicing
- Metabolism and Genetic Disorders
- Genetic Neurodegenerative Diseases
University of Rochester Medical Center
2024
Nationwide Children's Hospital
2021
University of Iowa
2017-2018
University of Iowa Stead Family Children’s Hospital
2017
University of Washington
2017
Carver Bible College
2017
University of Iowa Hospitals and Clinics
2016
<h3>Objective:</h3> To describe the spectrum of brain MRI findings in a cohort individuals with dystroglycanopathies (DGs) and relate results to function. <h3>Methods:</h3> All available MRIs done for clinical indications on enrolled DG natural history study (NCT00313677) were reviewed. Reports reviewed when was not available. categorized as follows: (1) cortical, brainstem, cerebellar malformations; (2) cortical or (3) normal. Language development assigned 1 3 categories by speech...
Limb girdle muscular dystrophy 2I is a slowly progressive due to mutations in the Fukutin-related protein ( FKRP) gene. Clinicians are frequently asked if physical activity harmful for pediatric patients with limb 2I. The primary objective of this study was determine there relationship between self-reported childhood level and motor function respiratory older children adults We compared retrospective middle school sport participation age at onset weakness, 10-meter walk test, forced vital...
NA
Objective: To describe the spectrum of brain MRI findings in a group 23 patients with alpha dystroglycanopathy (DG) (mutations POMT1 (1), POMT2 (4), POMTGnT1 (2), FKRP (10), FKTN and GMPPB (2)) compare to language motor function. Background: The DGs are clinically genetically heterogeneous muscular dystrophies highly variable involvement clinical features. Methods: All available MRIs from DG natural history study (NCT00313677) were retrospectively reviewed. categorized as: 1) normal or...
The primary objective of this study was to determine if there is a relationship between self-reported childhood activity level and motor respiratory function in older children adults with limb girdle muscular dystrophy 2I (LGMD2I).