Publications by authors named "Stephen Pastore"

5Publications

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Nat Genet 2020 10 28;52(10):1046-1056. Epub 2020 Sep 28.

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/s41588-020-0695-1DOI Listing
October 2020

A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.

J Hum Genet 2020 May 3;65(5):493-496. Epub 2020 Mar 3.

Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s10038-020-0734-xDOI Listing
May 2020

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Hum Genet 2019 Oct 30;138(10):1183-1200. Epub 2019 Aug 30.

Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, RI, USA.

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http://dx.doi.org/10.1007/s00439-019-02057-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748651PMC
October 2019

Molecular modulators of the circadian clock: lessons from flies and mice.

Cell Mol Life Sci 2017 03 29;74(6):1035-1059. Epub 2016 Sep 29.

Department of Biology, University of Toronto Mississauga, 3359 Mississauga Road, Mississauga, ON, L5L 1C6, Canada.

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http://dx.doi.org/10.1007/s00018-016-2378-8DOI Listing
March 2017

Endurance training ameliorates the metabolic and performance characteristics of circadian Clock mutant mice.

J Appl Physiol (1985) 2013 Apr 21;114(8):1076-84. Epub 2013 Feb 21.

Muscle Health Research Center, York University, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1152/japplphysiol.01505.2012DOI Listing
April 2013