202 results on '"Tarnopolsky, Mark"'
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2. Single nuclei profiling identifies cell specific markers of skeletal muscle aging, frailty, and senescence.
3. Secondary mitochondrial dysfunction across the spectrum of hereditary and acquired muscle disorders
4. Metabolic features of treatment-refractory major depressive disorder with suicidal ideation
5. 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
6. Cylindrical spirals and other concentric structures of skeletal muscle in patients with neurological diseases
7. Skeletal Muscle Mitochondrial Morphology Negatively Affected in Mice Lacking Xin
8. Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing
9. Genetic, structural and clinical analysis of spastic paraplegia 4
10. Caffeine blocks SREBP2-induced hepatic PCSK9 expression to enhance LDLR-mediated cholesterol clearance
11. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
12. Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline
13. Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
14. Normal to enhanced intrinsic mitochondrial respiration in skeletal muscle of middle- to older-aged women and men with uncomplicated type 1 diabetes
15. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group
16. 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
17. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
18. 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
19. Lien possible entre rhabdomyolyse et vaccin anti-SRAS-CoV-2 a ARNm chez une patiente porteuse d'une mutation du gene RYR1
20. Possible association between rhabdomyolysis and mRNA SARS-CoV-2 vaccination in a patient with RYR1 gene mutation
21. Metabolic Myopathies
22. Investigating the effects of dopamine on short‐ and long‐latency afferent inhibition.
23. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
24. Menstrual cycle hormones and oral contraceptives: A multi-method systems physiology-based review of their impact on key aspects of female physiology
25. Pediatric Peroneal Nerve Palsy Secondary to Fibular Osteochondroma
26. POLRMT mutations impair mitochondrial transcription causing neurological disease
27. Retraction Note to: Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice
28. Novel caffeine derivatives mitigate hyperlipidemia by reducing PCSK9 expression and secretion
29. Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes
30. Skeletal Muscle Mitochondrial Morphology Negatively Affected by Loss of Xin
31. Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment
32. Novel Multi-Ingredient Supplement Facilitates Weight Loss and Improves Body Composition in Overweight and Obese Individuals: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial
33. P873: “If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings
34. P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
35. A Metabolic Enhancer Protects against Diet-Induced Obesity and Liver Steatosis and Corrects a Pro-Atherogenic Serum Profile in Mice
36. Amyloid inflammatory myopathy: report of two cases and literature review (P9-8.009)
37. The Epilepsy Phenotype ofST3GAL3 ‐related Developmental and Epileptic Encephalopathy
38. Transgenerational effects of fetal and neonatal exposure to nicotine
39. Menstrual cycle hormones and oral contraceptives: a multimethod systems physiology-based review of their impact on key aspects of female physiology.
40. Circulating exosome‐like vesicle and skeletal muscle microRNAs are altered with age and resistance training.
41. Attrition from paediatric weight management impacts anthropometric outcomes at 2 years, but not health‐related quality of life.
42. Human skeletal muscle mitochondrial responses to single‐leg intermittent or continuous cycle exercise training matched for absolute intensity and total work
43. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
44. A Multi-Ingredient Supplement Protects against Obesity and Infertility in Western Diet-Fed Mice
45. The Acute Effect of Multi-Ingredient Antioxidant Supplementation following Ionizing Radiation
46. Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
47. Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
48. Anti– Valosin‐Containing Protein ( VCP /p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies
49. Hormonal Cycling And Substrate Oxidation At Rest And During Exercise: A Systematic Review And Meta-analysis
50. Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease
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