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| 36353900 | Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. | Clin Genet | 2023 |
| 37478793 | Cylindrical spirals and other concentric structures of skeletal muscle in patients with neurological diseases. | J Neurol Sci | 2023 |
| 37686725 | Novel Multi-Ingredient Supplement Facilitates Weight Loss and Improves Body Composition in Overweight and Obese Individuals: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial. | Nutrients | 2023 |
| 37823207 | Menstrual cycle hormones and oral contraceptives: a multimethod systems physiology-based review of their impact on key aspects of female physiology. | J Appl Physiol (1985) | 2023 |
| 37314053 | Attrition from paediatric weight management impacts anthropometric outcomes at 2â¿¿years, but not health-related quality of life. | Clin Obes | 2023 |
| 37242292 | A Metabolic Enhancer Protects against Diet-Induced Obesity and Liver Steatosis and Corrects a Pro-Atherogenic Serum Profile in Mice. | Nutrients | 2023 |
| 37268435 | Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. | Neurology | 2023 |
| 37067065 | The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy. | Epilepsia Open | 2023 |
| 36722691 | Circulating exosome-like vesicle and skeletal muscle microRNAs are altered with age and resistance training. | J Physiol | 2023 |
| 36477332 | Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. | Brain | 2023 |
| 36615864 | The Acute Effect of Multi-Ingredient Antioxidant Supplementation following Ionizing Radiation. | Nutrients | 2023 |
| 36779702 | Human skeletal muscle mitochondrial responses to single-leg intermittent or continuous cycle exercise training matched for absolute intensity and total work. | Scand J Med Sci Sports | 2023 |
| 36771318 | A Multi-Ingredient Supplement Protects against Obesity and Infertility in Western Diet-Fed Mice. | Nutrients | 2023 |
| 36461789 | Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462. | Mol Genet Genomic Med | 2023 |
| 36757831 | The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. | Brain | 2023 |
| 36373433 | Anti-Valosin-Containing Protein (VCP/p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies. | ACR Open Rheumatol | 2023 |
| 34620260 | Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year. | Can J Neurol Sci | 2022 |
| 35422034 | Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline. | Hum Genome Var | 2022 |
| 35718712 | Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease. | Mol Genet Metab | 2022 |
| 35487127 | Genetic, structural and clinical analysis of spastic paraplegia 4. | Parkinsonism Relat Disord | 2022 |
| 35713567 | Cerebrospinal fluid and plasma metabolomics of acute endurance exercise. | FASEB J | 2022 |
| 35484142 | Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. | Nat Commun | 2022 |
| 36588759 | Pre- and Postnatal Characterization of Autosomal Recessive <i>KIDINS220</i>-Associated Ventriculomegaly. | Mol Syndromol | 2022 |
| 36516485 | Single nuclei profiling identifies cell specific markers of skeletal muscle aging, frailty, and senescence. | Aging (Albany NY) | 2022 |
| 36537979 | Metabolic Myopathies. | Continuum (Minneap Minn) | 2022 |
| 35316212 | Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes. | J Clin Invest | 2022 |
| 35246957 | Life-long exercise training and inherited aerobic endurance capacity produce converging gut microbiome signatures in rodents. | Physiol Rep | 2022 |
| 35148013 | COVID-19-Associated Critical Illness Myopathy with Direct Viral Effects. | Ann Neurol | 2022 |
| 34970746 | Immune-mediated necrotizing myopathy after BNT162b2 vaccination in a patient with antibodies against receptor-binding domain of SARS-CoV-2 and signal recognition particle. | Muscle Nerve | 2022 |
| 34907783 | Effects of an acute exercise bout in hypoxia on extracellular vesicle release in healthy and prediabetic subjects. | Am J Physiol Regul Integr Comp Physiol | 2022 |
| 35236763 | Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial. | Thorax | 2022 |
| 35140212 | Caffeine blocks SREBP2-induced hepatic PCSK9 expression to enhance LDLR-mediated cholesterol clearance. | Nat Commun | 2022 |
| 32376792 | Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. | J Med Genet | 2021 |
| 37575640 | The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes. | J Pediatr Genet | 2021 |
| 33602924 | POLRMT mutations impair mitochondrial transcription causing neurological disease. | Nat Commun | 2021 |
| 33598982 | Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7. | Mov Disord | 2021 |
| 33597890 | Extracellular Vesicles and Exosomes: Insights From Exercise Science. | Front Physiol | 2021 |
| 33785048 | Retraction Note to: Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice. | Skelet Muscle | 2021 |
| 33890059 | Impaired Function and Altered Morphology in the Skeletal Muscles of Adult Men and Women With Type 1 Diabetes. | J Clin Endocrinol Metab | 2021 |
| 33630680 | Human skeletal muscle fiber type-specific responses to sprint interval and moderate-intensity continuous exercise: acute and training-induced changes. | J Appl Physiol (1985) | 2021 |
| 34587489 | ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. | Am J Hum Genet | 2021 |
| 34586898 | Alterations in skeletal muscle repair in young adults with type 1 diabetes mellitus. | Am J Physiol Cell Physiol | 2021 |
| 34392397 | Normal to enhanced intrinsic mitochondrial respiration in skeletal muscle of middle- to older-aged women and men with uncomplicated type 1 diabetes. | Diabetologia | 2021 |
| 34835983 | A Novel Multi-Ingredient Supplement Activates a Browning Program in White Adipose Tissue and Mitigates Weight Gain in High-Fat Diet-Fed Mice. | Nutrients | 2021 |
| 34059824 | Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. | Nat Med | 2021 |
| 33059774 | Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations. | Can J Neurol Sci | 2021 |
| 33459658 | Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. | J Neuromuscul Dis | 2021 |
| 33220502 | Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy. | Mitochondrion | 2021 |
| 33369152 | Dual molecular diagnoses in a neurometabolic specialty clinic. | Am J Med Genet A | 2021 |
| 33245860 | Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. | Am J Hum Genet | 2021 |