Search details
1.
Investigating the effects of dopamine on short- and long-latency afferent inhibition.
J Physiol
; 602(10): 2253-2264, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38638084
2.
Skeletal Muscle Mitochondrial Morphology Negatively Affected in Mice Lacking Xin.
Biochem Cell Biol
; 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38843556
3.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34587489
4.
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
; 108(1): 176-185, 2021 01 07.
Article
in English
| MEDLINE | ID: mdl-33245860
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.
Genet Med
; 26(2): 101012, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37924259
6.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Article
in English
| MEDLINE | ID: mdl-36757831
7.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36477332
8.
Circulating exosome-like vesicle and skeletal muscle microRNAs are altered with age and resistance training.
J Physiol
; 601(22): 5051-5073, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-36722691
9.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36353900
10.
COVID-19-Associated Critical Illness Myopathy with Direct Viral Effects.
Ann Neurol
; 91(4): 568-574, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35148013
11.
Cerebrospinal fluid and plasma metabolomics of acute endurance exercise.
FASEB J
; 36(7): e22408, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35713567
12.
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
; 33(6): 872-881, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36779702
13.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Article
in English
| MEDLINE | ID: mdl-30827497
14.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30929737
15.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30929741
16.
Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial.
Thorax
; 77(8): 805-811, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35236763
17.
Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease.
Mol Genet Metab
; 137(1-2): 228-240, 2022.
Article
in English
| MEDLINE | ID: mdl-35718712
18.
Effects of an acute exercise bout in hypoxia on extracellular vesicle release in healthy and prediabetic subjects.
Am J Physiol Regul Integr Comp Physiol
; 322(2): R112-R122, 2022 02 01.
Article
in English
| MEDLINE | ID: mdl-34907783
19.
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
J Med Genet
; 58(4): 284-288, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32376792
20.
Alterations in skeletal muscle repair in young adults with type 1 diabetes mellitus.
Am J Physiol Cell Physiol
; 321(5): C876-C883, 2021 11 01.
Article
in English
| MEDLINE | ID: mdl-34586898