Publications by authors named "Mark A Tarnopolsky"

100Publications

Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy.

Mitochondrion 2020 Nov 18. Epub 2020 Nov 18.

Department of Medicine/Neurology, Canada; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1016/j.mito.2020.11.005DOI Listing
November 2020

A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant.

Mitochondrion 2020 07 30;53:150-153. Epub 2020 May 30.

Department of Paediatrics, McMaster University, 1200 Main St. W., Hamilton, Ontario L8N 3Z5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2020.05.006DOI Listing
July 2020

Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo.

FASEB J 2020 Jul 22;34(7):9297-9306. Epub 2020 May 22.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, Children's Health Research Institute, London, ON, Canada.

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http://dx.doi.org/10.1096/fj.202000463RDOI Listing
July 2020

Response to "Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise".

J Neurol Sci 2020 07 11;414:116895. Epub 2020 May 11.

Department of Medicine/Neurology, Hamilton, Ontario, Canada; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jns.2020.116895DOI Listing
July 2020

A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.

J Inherit Metab Dis 2020 May 7. Epub 2020 May 7.

Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1002/jimd.12248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7647956PMC
May 2020

Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy.

J Neurol Sci 2020 06 1;413:116816. Epub 2020 Apr 1.

Department of Medicine/Neurology, McMaster University, Hamilton, Ontario, Canada; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jns.2020.116816DOI Listing
June 2020

Severe chorioretinal atrophy in Boucher-Neuhauser syndrome.

Can J Ophthalmol 2020 02 9;55(1):e26-e28. Epub 2019 Aug 9.

Hamilton Regional Eye Institute, Division of Ophthalmology, Department of Surgery, McMaster University, Hamilton, Ont.. Electronic address:

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http://dx.doi.org/10.1016/j.jcjo.2019.07.001DOI Listing
February 2020

Effect of short-term, high-intensity exercise training on human skeletal muscle citrate synthase maximal activity: single versus multiple bouts per session.

Appl Physiol Nutr Metab 2019 Dec 16;44(12):1391-1394. Epub 2019 Oct 16.

Department of Kinesiology, McMaster University, Hamilton, ON L8S 4K1, Canada.

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http://dx.doi.org/10.1139/apnm-2019-0403DOI Listing
December 2019

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Mitochondrion 2019 11 12;49:227-231. Epub 2019 Sep 12.

Department of Pediatrics, McMaster University, Hamilton, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.09.002DOI Listing
November 2019

Statin administration activates system xC in skeletal muscle: a potential mechanism explaining statin-induced muscle pain.

Am J Physiol Cell Physiol 2019 11 11;317(5):C894-C899. Epub 2019 Sep 11.

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.

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https://www.physiology.org/doi/10.1152/ajpcell.00308.2019
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http://dx.doi.org/10.1152/ajpcell.00308.2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879878PMC
November 2019

Nutrition and exercise in Pompe disease.

Ann Transl Med 2019 Jul;7(13):282

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.21037/atm.2019.05.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642937PMC
July 2019

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Paediatr Child Health 2019 Jul 8;24(4):270-271. Epub 2019 May 8.

Department of Neurology Paediatrics, Children's Hospital London Health Science Centre, London, Ontario.

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http://dx.doi.org/10.1093/pch/pxy153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587424PMC
July 2019

Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy.

J Neuropathol Exp Neurol 2019 06;78(6):508-514

Department of Medicine/Neurology, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1093/jnen/nlz029DOI Listing
June 2019

Mitochondria and Aging-The Role of Exercise as a Countermeasure.

Biology (Basel) 2019 May 11;8(2). Epub 2019 May 11.

Department of Pediatrics and Medicine, McMaster University Medical Center, Hamilton, ON L8S 4L8, Canada.

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https://www.mdpi.com/2079-7737/8/2/40
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http://dx.doi.org/10.3390/biology8020040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627948PMC
May 2019

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Am J Hum Genet 2019 03 28;104(3):466-483. Epub 2019 Feb 28.

Division of Neurology, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193001
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http://dx.doi.org/10.1016/j.ajhg.2019.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407525PMC
March 2019

Myopathies Related to Glycogen Metabolism Disorders.

Neurotherapeutics 2018 10;15(4):915-927

Division of Neuromuscular & Neurometabolic Disorders, Departments of Pediatrics and Medicine, McMaster University, Hamilton Health Sciences Centre, Rm 2H26, Hamilton, ON, L8S 4L8, Canada.

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http://link.springer.com/10.1007/s13311-018-00684-2
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http://dx.doi.org/10.1007/s13311-018-00684-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277299PMC
October 2018

Blunted satellite cell response is associated with dysregulated IGF-1 expression after exercise with age.

Eur J Appl Physiol 2018 Oct 31;118(10):2225-2231. Epub 2018 Jul 31.

Department of Kinesiology, McMaster University, Hamilton, ON, Canada.

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http://dx.doi.org/10.1007/s00421-018-3954-4DOI Listing
October 2018

Altered mitochondrial bioenergetics and ultrastructure in the skeletal muscle of young adults with type 1 diabetes.

Diabetologia 2018 06 18;61(6):1411-1423. Epub 2018 Apr 18.

School of Kinesiology and Health Sciences, Muscle Health Research Centre, York University, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s00125-018-4602-6DOI Listing
June 2018

The prognosis for glycemic status among children and youth with obesity 2 years after entering a weight management program.

Pediatr Diabetes 2018 08 17;19(5):874-881. Epub 2018 Apr 17.

Department of Pediatrics, McMaster University, Hamilton, Canada.

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http://dx.doi.org/10.1111/pedi.12675DOI Listing
August 2018

CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation.

Mitochondrion 2019 05 6;46:69-72. Epub 2018 Mar 6.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, Children's Health Research Institute, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.mito.2018.02.008DOI Listing
May 2019

Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation.

Mitochondrion 2019 03 1;45:18-21. Epub 2018 Feb 1.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249173032
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http://dx.doi.org/10.1016/j.mito.2018.01.010DOI Listing
March 2019

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.

Can J Neurol Sci 2018 05 31;45(3):262-268. Epub 2018 Jan 31.

Department of Pediatrics,McMaster University Children's Hospital,Hamilton,ON,Canada.

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https://www.cambridge.org/core/product/identifier/S031716711
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http://dx.doi.org/10.1017/cjn.2017.286DOI Listing
May 2018

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Mitochondrion 2019 01 12;44:15-19. Epub 2017 Dec 12.

McMaster University Medical Centre, Hamilton, ON, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249173031
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http://dx.doi.org/10.1016/j.mito.2017.12.006DOI Listing
January 2019

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Authors:
M Carola Zillikens Serkalem Demissie Yi-Hsiang Hsu Laura M Yerges-Armstrong Wen-Chi Chou Lisette Stolk Gregory Livshits Linda Broer Toby Johnson Daniel L Koller Zoltán Kutalik Jian'an Luan Ida Malkin Janina S Ried Albert V Smith Gudmar Thorleifsson Liesbeth Vandenput Jing Hua Zhao Weihua Zhang Ali Aghdassi Kristina Åkesson Najaf Amin Leslie J Baier Inês Barroso David A Bennett Lars Bertram Rainer Biffar Murielle Bochud Michael Boehnke Ingrid B Borecki Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos Obanda Jane A Cauley Peggy M Cawthon Henna Cederberg Zhao Chen Nam H Cho Hyung Jin Choi Melina Claussnitzer Francis Collins Steven R Cummings Philip L De Jager Ilja Demuth Rosalie A M Dhonukshe-Rutten Luda Diatchenko Gudny Eiriksdottir Anke W Enneman Mike Erdos Johan G Eriksson Joel Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Melissa Garcia Christian Gieger Thomas Girke Nicole L Glazer Harald Grallert Jagvir Grewal Bok-Ghee Han Robert L Hanson Caroline Hayward Albert Hofman Eric P Hoffman Georg Homuth Wen-Chi Hsueh Monica J Hubal Alan Hubbard Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Heikki A Koistinen William E Kraus Stephen Kritchevsky Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Lenore J Launer Jong-Young Lee Markus M Lerch Joshua R Lewis Lars Lind Cecilia Lindgren Yongmei Liu Tian Liu Youfang Liu Östen Ljunggren Mattias Lorentzon Robert N Luben William Maixner Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Simon Melov Karl Michaëlsson Braxton D Mitchell Andrew P Morris Leif Mosekilde Anne Newman Carrie M Nielson Jeffrey R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Stephen C J Parker Munro Peacock Markus Perola Annette Peters Ozren Polasek Richard L Prince Katri Räikkönen Stuart H Ralston Samuli Ripatti John A Robbins Jerome I Rotter Igor Rudan Veikko Salomaa Suzanne Satterfield Eric E Schadt Sabine Schipf Laura Scott Joban Sehmi Jian Shen Chan Soo Shin Gunnar Sigurdsson Shad Smith Nicole Soranzo Alena Stančáková Elisabeth Steinhagen-Thiessen Elizabeth A Streeten Unnur Styrkarsdottir Karin M A Swart Sian-Tsung Tan Mark A Tarnopolsky Patricia Thompson Cynthia A Thomson Unnur Thorsteinsdottir Emmi Tikkanen Gregory J Tranah Jaakko Tuomilehto Natasja M van Schoor Arjun Verma Peter Vollenweider Henry Völzke Jean Wactawski-Wende Mark Walker Michael N Weedon Ryan Welch H-Erich Wichmann Elisabeth Widen Frances M K Williams James F Wilson Nicole C Wright Weijia Xie Lei Yu Yanhua Zhou John C Chambers Angela Döring Cornelia M van Duijn Michael J Econs Vilmundur Gudnason Jaspal S Kooner Bruce M Psaty Timothy D Spector Kari Stefansson Fernando Rivadeneira André G Uitterlinden Nicholas J Wareham Vicky Ossowski Dawn Waterworth Ruth J F Loos David Karasik Tamara B Harris Claes Ohlsson Douglas P Kiel

Nat Commun 2017 11 7;8(1):1414. Epub 2017 Nov 7.

Hebrew SeniorLife, Institute for Aging Research, Roslindale, MA, 02131, USA.

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http://dx.doi.org/10.1038/s41467-017-01008-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676783PMC
November 2017

mutations are associated with features of complex hereditary spastic paraparesis.

Neurology 2017 11 11;89(21):2210-2211. Epub 2017 Oct 11.

From McMaster University (M.A.T., L.B.), Hamilton; and McGill University (M.T.), Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000004657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696640PMC
November 2017

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Authors:
M Carola Zillikens Serkalem Demissie Yi-Hsiang Hsu Laura M Yerges-Armstrong Wen-Chi Chou Lisette Stolk Gregory Livshits Linda Broer Toby Johnson Daniel L Koller Zoltán Kutalik Jian'an Luan Ida Malkin Janina S Ried Albert V Smith Gudmar Thorleifsson Liesbeth Vandenput Jing Hua Zhao Weihua Zhang Ali Aghdassi Kristina Åkesson Najaf Amin Leslie J Baier Inês Barroso David A Bennett Lars Bertram Rainer Biffar Murielle Bochud Michael Boehnke Ingrid B Borecki Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos Obanda Jane A Cauley Peggy M Cawthon Henna Cederberg Zhao Chen Nam H Cho Hyung Jin Choi Melina Claussnitzer Francis Collins Steven R Cummings Philip L De Jager Ilja Demuth Rosalie A M Dhonukshe-Rutten Luda Diatchenko Gudny Eiriksdottir Anke W Enneman Mike Erdos Johan G Eriksson Joel Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Melissa Garcia Christian Gieger Thomas Girke Nicole L Glazer Harald Grallert Jagvir Grewal Bok-Ghee Han Robert L Hanson Caroline Hayward Albert Hofman Eric P Hoffman Georg Homuth Wen-Chi Hsueh Monica J Hubal Alan Hubbard Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Heikki A Koistinen William E Kraus Stephen Kritchevsky Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Lenore J Launer Jong-Young Lee Markus M Lerch Joshua R Lewis Lars Lind Cecilia Lindgren Yongmei Liu Tian Liu Youfang Liu Östen Ljunggren Mattias Lorentzon Robert N Luben William Maixner Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Simon Melov Karl Michaëlsson Braxton D Mitchell Andrew P Morris Leif Mosekilde Anne Newman Carrie M Nielson Jeffrey R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Stephen C J Parker Munro Peacock Markus Perola Annette Peters Ozren Polasek Richard L Prince Katri Räikkönen Stuart H Ralston Samuli Ripatti John A Robbins Jerome I Rotter Igor Rudan Veikko Salomaa Suzanne Satterfield Eric E Schadt Sabine Schipf Laura Scott Joban Sehmi Jian Shen Chan Soo Shin Gunnar Sigurdsson Shad Smith Nicole Soranzo Alena Stančáková Elisabeth Steinhagen-Thiessen Elizabeth A Streeten Unnur Styrkarsdottir Karin M A Swart Sian-Tsung Tan Mark A Tarnopolsky Patricia Thompson Cynthia A Thomson Unnur Thorsteinsdottir Emmi Tikkanen Gregory J Tranah Jaakko Tuomilehto Natasja M van Schoor Arjun Verma Peter Vollenweider Henry Völzke Jean Wactawski-Wende Mark Walker Michael N Weedon Ryan Welch H-Erich Wichmann Elisabeth Widen Frances M K Williams James F Wilson Nicole C Wright Weijia Xie Lei Yu Yanhua Zhou John C Chambers Angela Döring Cornelia M van Duijn Michael J Econs Vilmundur Gudnason Jaspal S Kooner Bruce M Psaty Timothy D Spector Kari Stefansson Fernando Rivadeneira André G Uitterlinden Nicholas J Wareham Vicky Ossowski Dawn Waterworth Ruth J F Loos David Karasik Tamara B Harris Claes Ohlsson Douglas P Kiel

Nat Commun 2017 07 19;8(1):80. Epub 2017 Jul 19.

Hebrew SeniorLife, Institute for Aging Research, Roslindale, MA, 02131, USA.

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http://dx.doi.org/10.1038/s41467-017-00031-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517526PMC
July 2017

Higher oxidative stress in skeletal muscle of McArdle disease patients.

Mol Genet Metab Rep 2017 Sep 9;12:69-75. Epub 2017 Jun 9.

Department of Pediatrics, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2017.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470535PMC
September 2017

Exosomes as Mediators of the Systemic Adaptations to Endurance Exercise.

Cold Spring Harb Perspect Med 2018 03 1;8(3). Epub 2018 Mar 1.

Department of Pediatrics, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.

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http://dx.doi.org/10.1101/cshperspect.a029827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830902PMC
March 2018

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Perspectives on Exertional Rhabdomyolysis.

Sports Med 2017 Mar;47(Suppl 1):33-49

Department of Pediatrics and Medicine, McMaster University, Hamilton, ON, Canada.

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http://dx.doi.org/10.1007/s40279-017-0689-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371628PMC
March 2017

Effect of sex on the acute skeletal muscle response to sprint interval exercise.

Exp Physiol 2017 03 24;102(3):354-365. Epub 2017 Jan 24.

Department of Kinesiology, Ivor Wynne Centre, Room 210, McMaster University, Hamilton, ON, Canada, L8S 4K1.

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http://dx.doi.org/10.1113/EP086118DOI Listing
March 2017

Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers.

Pediatr Neurol 2017 02 25;67:98-101. Epub 2016 Oct 25.

Departments of Pediatrics and Medicine, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.10.012DOI Listing
February 2017

Metabolic Myopathies.

Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851

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http://dx.doi.org/10.1212/CON.0000000000000403DOI Listing
December 2016

Two novel mitochondrial tRNA mutations, A7495G (tRNA) and C5577T (tRNA), are associated with seizures and cardiac dysfunction.

Mitochondrion 2016 Nov 28;31:40-44. Epub 2016 Sep 28.

McMaster Children's Hospital, Hamilton, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.09.002DOI Listing
November 2016

Decreased Satellite Cell Number and Function in Humans and Mice With Type 1 Diabetes Is the Result of Altered Notch Signaling.

Diabetes 2016 10 22;65(10):3053-61. Epub 2016 Jun 22.

Department of Pathology & Molecular Medicine, McMaster University, Hamilton, Ontario, Canada

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http://dx.doi.org/10.2337/db15-1577DOI Listing
October 2016

The potential of endurance exercise-derived exosomes to treat metabolic diseases.

Nat Rev Endocrinol 2016 09 27;12(9):504-17. Epub 2016 May 27.

Department of Pediatrics, McMaster University, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada.

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http://dx.doi.org/10.1038/nrendo.2016.76DOI Listing
September 2016

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.

Sci Rep 2016 04 28;6:25186. Epub 2016 Apr 28.

University of Pittsburgh School of Medicine, Division of Cardiology, Center for Metabolism and Mitochondrial Medicine and Vascular Medicine Institute, Pittsburgh, PA, 15261, United States.

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http://dx.doi.org/10.1038/srep25186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848546PMC
April 2016

Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy.

Can J Neurol Sci 2016 May 25;43(3):381-4. Epub 2016 Feb 25.

2St. Michaels Hospital,University of Toronto,Toronto,Ontario.

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http://dx.doi.org/10.1017/cjn.2015.386DOI Listing
May 2016

Adiposity and immune-muscle crosstalk in South Asians &Europeans: A cross-sectional study.

Sci Rep 2015 Oct 12;5:14521. Epub 2015 Oct 12.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1038/srep14521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600971PMC
October 2015

β-Alanine Supplementation Does Not Augment the Skeletal Muscle Adaptive Response to 6 Weeks of Sprint Interval Training.

Int J Sport Nutr Exerc Metab 2015 Dec 22;25(6):541-9. Epub 2015 May 22.

Dept. of Kinesiology, McMaster University, Hamilton, ON, Canada.

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http://dx.doi.org/10.1123/ijsnem.2015-0046DOI Listing
December 2015

Manipulating Carbohydrate Availability Between Twice-Daily Sessions of High-Intensity Interval Training Over 2 Weeks Improves Time-Trial Performance.

Int J Sport Nutr Exerc Metab 2015 Oct 26;25(5):463-70. Epub 2015 Mar 26.

Exercise Metabolism Research Group, Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1123/ijsnem.2014-0263DOI Listing
October 2015

Sex differences in skeletal muscle phosphatase and tensin homolog deleted on chromosome 10 (PTEN) levels: a cross-sectional study.

Sci Rep 2015 Mar 17;5:9154. Epub 2015 Mar 17.

1] Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada [2] Department of Medicine, McMaster University, Hamilton, Ontario, Canada.

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http://www.nature.com/articles/srep09154
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http://dx.doi.org/10.1038/srep09154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366049PMC
March 2015

Two cases of congenital myasthenic syndrome with vocal cord paralysis.

Neurology 2015 Mar 18;84(12):1281-2. Epub 2015 Feb 18.

From McMaster University (R.A.-S., L.I.B., M.A.T.), Hamilton; and McGill University and Genome Quebec Innovation Centre (J.S.), Montréal, Canada.

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http://www.neurology.org/content/early/2015/02/18/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000139
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http://dx.doi.org/10.1212/WNL.0000000000001396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366090PMC
March 2015

Effects of age and unaccustomed resistance exercise on mitochondrial transcript and protein abundance in skeletal muscle of men.

Am J Physiol Regul Integr Comp Physiol 2015 Apr 18;308(8):R734-41. Epub 2015 Feb 18.

Pediatrics and Medicine, McMaster University, Hamilton, ON, Canada; and

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http://dx.doi.org/10.1152/ajpregu.00005.2014DOI Listing
April 2015

Polymerase gamma mutator mice rely on increased glycolytic flux for energy production.

Mitochondrion 2015 Mar 6;21:19-26. Epub 2015 Jan 6.

Department of Pediatrics, McMaster University, 1200 Main St. West, Hamilton, ON, L8N 3Z5, Canada; Department of Medicine, McMaster University, 1200 Main St. West, Hamilton, ON, L8N 3Z5, Canada; Department of Kinesiology, McMaster University, 1200 Main St. West, Hamilton, ON, L8N 3Z5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2014.12.001DOI Listing
March 2015

Statin-associated Autoimmune Myopathies: A Pathophysiologic Spectrum.

Can J Neurol Sci 2014 Sep;41(5):638-47

4Department of Medicine,McMaster Children's Hospital,Hamilton,Ontario L8N 3Z5,Canada.

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http://dx.doi.org/10.1017/cjn.2014.22DOI Listing
September 2014

The order of exercise during concurrent training for rehabilitation does not alter acute genetic expression, mitochondrial enzyme activity or improvements in muscle function.

PLoS One 2014 7;9(10):e109189. Epub 2014 Oct 7.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada; Department of Medicine, McMaster University, Hamilton, Ontario, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109189PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188604PMC
June 2015

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Ann Neurol 2014 Oct 30;76(4):509-21. Epub 2014 Aug 30.

Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.24248DOI Listing
October 2014

Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice.

Free Radic Biol Med 2014 Oct 12;75:241-51. Epub 2014 Aug 12.

Department of Animal Biology, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.freeradbiomed.2014.07.038DOI Listing
October 2014

Reply from the authors.

Pediatr Neurol 2014 Aug 29;51(2):e5-6. Epub 2014 May 29.

Division of Neurology, Department of Medicine, University of Toronto, Toronto Western Hospital, Toronto, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.024DOI Listing
August 2014

The unfolded protein response is triggered following a single, unaccustomed resistance-exercise bout.

Am J Physiol Regul Integr Comp Physiol 2014 Sep 9;307(6):R664-9. Epub 2014 Jul 9.

Department of Pediatrics and Medicine, McMaster University, Hamilton, Ontario, Canada

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http://dx.doi.org/10.1152/ajpregu.00511.2013DOI Listing
September 2014

Exercise as a therapeutic strategy for primary mitochondrial cytopathies.

J Child Neurol 2014 Sep 9;29(9):1225-34. Epub 2014 Jul 9.

From the Division of Neuromuscular and Neurometabolic Diseases, McMaster University, Hamilton, Ontario, Canada

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http://journals.sagepub.com/doi/10.1177/0883073814538512
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September 2014

Fluvastatin causes NLRP3 inflammasome-mediated adipose insulin resistance.

Diabetes 2014 Nov 10;63(11):3742-7. Epub 2014 Jun 10.

Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, Ontario, Canada Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada

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http://diabetes.diabetesjournals.org/content/early/2014/06/1
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http://diabetes.diabetesjournals.org/lookup/doi/10.2337/db13
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http://dx.doi.org/10.2337/db13-1398DOI Listing
November 2014

Impact of habitual exercise on the strength of individuals with myotonic dystrophy type 1.

Am J Phys Med Rehabil 2014 Sep;93(9):739-46; quiz 747-8

From the Departments of Pediatrics (LIB, LGM, MAT) and Medicine (MAT), McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1097/PHM.0000000000000088DOI Listing
September 2014

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet.

Pediatr Neurol 2014 May 7;50(5):498-502. Epub 2014 Jan 7.

Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.009DOI Listing
May 2014

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Neurology 2014 Mar 19;82(11):963-8. Epub 2014 Feb 19.

From Metabolics and Newborn Screening (M.A.L.), University of Ottawa, Children's Hospital of Eastern Ontario; Clinical and Metabolic Genetics (R.J.), and The Centre for Applied Genomics and Program in Genetics and Genome Biology (C.R.M., S.W.S.), The Hospital for Sick Children, Toronto; Neuromuscular and Neuorometabolic Disorders (L.B., M.A.T.), and Department of Ophthalmology (A.R.R.), McMaster University, Hamilton; Department of Molecular Genetics, McLaughlin Centre (C.R.M., S.W.S.), and Division of Neurology, Sunnybrook Health Sciences Centre (L.L.), University of Toronto; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease (A.E.L., T.A.M.), Toronto Western Hospital, Canada; and Laboratory Genetic Metabolic Diseases (R.J.A.W., S.F.), Academic Medical Center, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963001PMC
March 2014

Intermittent and continuous high-intensity exercise training induce similar acute but different chronic muscle adaptations.

Exp Physiol 2014 May 14;99(5):782-91. Epub 2014 Feb 14.

Exercise Metabolism Research Group, Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada

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http://dx.doi.org/10.1113/expphysiol.2013.077453DOI Listing
May 2014

Elevated mitochondrial oxidative stress impairs metabolic adaptations to exercise in skeletal muscle.

PLoS One 2013 6;8(12):e81879. Epub 2013 Dec 6.

Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada ; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855701PMC
September 2014

Xin is a marker of skeletal muscle damage severity in myopathies.

Am J Pathol 2013 Dec 11;183(6):1703-1709. Epub 2013 Nov 11.

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2013.08.010DOI Listing
December 2013

Endurance training modulates intramyocellular lipid compartmentalization and morphology in skeletal muscle of lean and obese women.

J Clin Endocrinol Metab 2013 Dec 30;98(12):4852-62. Epub 2013 Sep 30.

Departments of Pediatrics and Medicine, McMaster University, Neuromuscular Disease Clinic, Health Sciences Centre, Room 2H26, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada.

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http://dx.doi.org/10.1210/jc.2013-2044DOI Listing
December 2013

Evidence for the contribution of muscle stem cells to nonhypertrophic skeletal muscle remodeling in humans.

FASEB J 2013 Nov 8;27(11):4596-605. Epub 2013 Aug 8.

1Departments of Kinesiology and Medical Physics and Applied Radiation Sciences, McMaster University, Hamilton, Ontario, Canada L8S 4L8.

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http://dx.doi.org/10.1096/fj.13-229799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3804745PMC
November 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet J Rare Dis 2013 Aug 6;8:117. Epub 2013 Aug 6.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1186/1750-1172-8-117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751094PMC
August 2013

Oxidative stress and Nrf2 signaling in McArdle disease.

Mol Genet Metab 2013 Nov 6;110(3):297-302. Epub 2013 Jul 6.

Departments of Pediatrics and Medicine, McMaster University, 1200 Main Street West, Hamilton, Ontario, L8N 3Z5 Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.06.022DOI Listing
November 2013

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

Am J Med Genet A 2013 Aug 21;161A(8):2016-9. Epub 2013 Jun 21.

Faculty of Medicine, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35999DOI Listing
August 2013

Creatine for treating muscle disorders.

Cochrane Database Syst Rev 2013 Jun 5(6):CD004760. Epub 2013 Jun 5.

Department of Neurology, University Hospital Bergmannsheil, Ruhr University Bochum, Bochum, Germany.

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http://doi.wiley.com/10.1002/14651858.CD004760.pub4
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492334PMC
June 2013

Interval training in the fed or fasted state improves body composition and muscle oxidative capacity in overweight women.

Obesity (Silver Spring) 2013 Nov 31;21(11):2249-55. Epub 2013 May 31.

Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1002/oby.20379DOI Listing
November 2013