A5043825009- Cerebral Palsy and Movement Disorders
- Metabolism and Genetic Disorders
- Children's Physical and Motor Development
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Congenital Anomalies and Fetal Surgery
- Genetics and Neurodevelopmental Disorders
- Botulinum Toxin and Related Neurological Disorders
- Nerve Injury and Rehabilitation
- Cardiomyopathy and Myosin Studies
- Spine and Intervertebral Disc Pathology
- Folate and B Vitamins Research
- Spinal Cord Injury Research
- Stroke Rehabilitation and Recovery
- Physical Activity and Health
- Cardiovascular Effects of Exercise
- Metalloenzymes and iron-sulfur proteins
- Biotin and Related Studies
- Spaceflight effects on biology
- Vitamin K Research Studies
- Aldose Reductase and Taurine
- Congenital heart defects research
- Tissue Engineering and Regenerative Medicine
University of Rochester Medical Center
2022-2025
University of Rochester
2022-2024
Nationwide Children's Hospital
2021
The Ohio State University
2021
University of Michigan–Ann Arbor
2020
VA Ann Arbor Healthcare System
2020
Pediatrics and Genetics
2020
SUNY Upstate Medical University
2011-2017
Linde (United States)
2014-2015
Perspectives Charter School
2015
ABSTRACT Background Nusinersen and risdiplam are U.S. Food Drug Administration (FDA)‐approved treatments for spinal muscular atrophy (SMA). No head‐to‐head clinical trials to assess efficacy exist. Observational studies needed determine if transitioning is safe efficacious. Methods This retrospective study at Nationwide Children's Hospital included individuals with SMA treated nusinersen who switched risdiplam. Motor, pulmonary bulbar function were assessed before 2 years after initiation....
TANGO2-deficiency disorder (TDD) is an autosomal recessive condition arising from pathogenic biallelic variants in the TANGO2 gene. TDD characterized by symptoms typically beginning late infancy including delayed developmental milestones, cognitive impairment, dysarthria, expressive language deficits, and gait abnormalities. There wide phenotypic variability where some are severely affected while others have mild symptoms. This has been documented even among sibling pairs who share same...
Abstract Mutations in the TANGO2 gene cause severe illness humans, including life-threatening metabolic crises; however, function of protein remains unknown. In a recent publication Nature , Sun et al. proposed that helps transport haem within and between cells, from areas with high concentrations to those lower concentrations. Caenorhabditis elegans has two versions called HRG-9 HRG-10. They demonstrated worms deficient these proteins show increased survival upon exposure toxic analog,...
Treatment for cauda equina (CE) ventral root injury is currently limited. Furthermore, relatively little known about the time course of nerve functional degeneration after such has occurred. Using a previously developed method identifying spinal roots that innervate rat tail, we transected S2, S3, and S4 measured their ability to activate tail muscles out 72 h post-injury by way stimulus-evoked electromyography (EMG) recording. Immediately following transection, all distal stumps...
Abstract TANGO2 deficiency disorder (TDD) is a rare, autosomal recessive condition caused by pathogenic variants in , gene residing within the region commonly deleted 22q11.2 deletion syndrome (22q11.2DS). Although patients with 22q11.2DS are at substantially higher risk for comorbid TDD, it remains underdiagnosed 22q11.2DS, likely due to overlapping symptomatology and lack of knowledge about TDD. Initiation B‐vitamin supplementation may provide therapeutic benefit highlighting need...
ABSTRACT TANGO2 deficiency disorder (TDD) is a rare genetic estimated to affect ∼8000 individuals worldwide. It causes neurodegeneration often accompanied by potentially lethal metabolic crises that are triggered diet or illness. Recent work has demonstrated distinct lipid imbalances in multiple model systems either depleted for devoid of the protein, including human cells, fruit flies and zebrafish. Importantly, vitamin B5 supplementation been shown rescue deficiency-associated defects...
This study examined the effect of short-term auditory pacing practice on dual motor task performance in children with and without dyslexia. Groups included dyslexic Movement Assessment Battery for Children (MABC) scores > 15th percentile (D_HIGH, n = 18; mean age 9.89 ± 2.0 years), MABC ≤ (D_LOW, 15; 10.43 1.8 typically developing (TD, 10.64 years). Participants clapped walked simultaneously 3 pretest trials, completed 16 trials pacing, posttest pacing. D_LOW differed significantly from...
The rat tail exhibits functional impairment after cauda equina injury. Our goal was to better understand the innervation and roles of muscles that control tail.Adult rats received either: (1) ventral root injury; (2) caudales nerve or (3) mapping sacrococcygeal myotomes. Activation small within itself (intrinsics) compared with larger lumbosacral acting on (extrinsics). Behavioral testing movement done 1 week later.Rats injury exhibited multiple behavioral deficits, whereas nerves maintained...
To determine the utilization of genetic testing in patients seen by a neurologist within large private insurance population.Using Optum health care claims database, we identified cross-sectional cohort who had been evaluated no more than 30 days before initial testing. Within this group, then categorized between 2014 and 2016 on basis Current Procedural Terminology (CPT) codes related to molecular We also International Classification Disease Version 9 Clinical Code Classifications (ICD-9...
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Treatments for patients with cauda equina injury are limited.In this study, we first used retrograde labeling to determine the relative contributions of motor neurons intrinsic and extrinsic rat tail muscles. Next, transected ventral roots proceeded bridge proximal distal stumps either a type I collagen scaffold coated in laminin (CL) or collagen-laminin that was also seeded Schwann cells (CLSC). Regeneration assessed by way serial labeling.After accounting axonal vs. muscles, noted higher...