2,010 results on '"Tarnopolsky, Mark A."'
Search Results
2. Single nuclei profiling identifies cell specific markers of skeletal muscle aging, frailty, and senescence.
3. Metabolic features of treatment-refractory major depressive disorder with suicidal ideation
4. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
5. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
6. Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy
7. Cylindrical spirals and other concentric structures of skeletal muscle in patients with neurological diseases
8. Skeletal Muscle Mitochondrial Morphology Negatively Affected in Mice Lacking Xin
9. Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing
10. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy
11. Genetic, structural and clinical analysis of spastic paraplegia 4
12. Caffeine blocks SREBP2-induced hepatic PCSK9 expression to enhance LDLR-mediated cholesterol clearance
13. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
14. Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline
15. Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
16. Normal to enhanced intrinsic mitochondrial respiration in skeletal muscle of middle- to older-aged women and men with uncomplicated type 1 diabetes
17. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group
18. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
19. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
20. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
21. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
22. Lien possible entre rhabdomyolyse et vaccin anti-SRAS-CoV-2 a ARNm chez une patiente porteuse d'une mutation du gene RYR1
23. Possible association between rhabdomyolysis and mRNA SARS-CoV-2 vaccination in a patient with RYR1 gene mutation
24. Metabolic Myopathies
25. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
26. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α
27. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
28. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
29. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
30. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
31. Investigating the effects of dopamine on short‐ and long‐latency afferent inhibition.
32. Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy
33. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
34. Menstrual cycle hormones and oral contraceptives: A multi-method systems physiology-based review of their impact on key aspects of female physiology
35. Pediatric Peroneal Nerve Palsy Secondary to Fibular Osteochondroma
36. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study
37. POLRMT mutations impair mitochondrial transcription causing neurological disease
38. Retraction Note to: Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice
39. Paraspinal muscle ladybird homeobox 1 (LBX1) in adolescent idiopathic scoliosis: a cross-sectional study
40. Neurodevelopmental and associated changes in a patient with Xp22.31 duplication
41. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
42. Novel caffeine derivatives mitigate hyperlipidemia by reducing PCSK9 expression and secretion
43. Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes
44. Genome-wide DNA methylation changes with age in disease-free human skeletal muscle.
45. Skeletal Muscle Mitochondrial Morphology Negatively Affected by Loss of Xin
46. Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment
47. Novel Multi-Ingredient Supplement Facilitates Weight Loss and Improves Body Composition in Overweight and Obese Individuals: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial
48. Gender Differences in Metabolism
49. Blunted satellite cell response is associated with dysregulated IGF-1 expression after exercise with age
50. Myopathies Related to Glycogen Metabolism Disorders
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.