Publications by authors named "Mark 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

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Mov Disord Clin Pract 2020 Nov 29;7(8):940-949. Epub 2020 Sep 29.

Division of Clinical and Metabolic Genetics, Department of Paediatrics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada.

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http://dx.doi.org/10.1002/mdc3.13086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7604675PMC
November 2020

Assessing non-Mendelian inheritance in inherited axonopathies.

Genet Med 2020 Aug 3. Epub 2020 Aug 3.

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41436-020-0924-0DOI Listing
August 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

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.

J Med Genet 2020 May 6. Epub 2020 May 6.

Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences Centre, London, Ontario, Canada

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http://dx.doi.org/10.1136/jmedgenet-2019-106641DOI Listing
May 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurol Genet 2020 Apr 2;6(2):e402. Epub 2020 Mar 2.

Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164977PMC
April 2020

Management of mitochondrial diabetes in the era of novel therapies.

J Diabetes Complications 2020 Apr 13:107584. Epub 2020 Apr 13.

Section on Endocrinology & Genetics (SEGEN), National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.jdiacomp.2020.107584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554068PMC
April 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

Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.

J Child Neurol 2020 02 4;35(2):176-177. Epub 2019 Nov 4.

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

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http://dx.doi.org/10.1177/0883073819881259DOI Listing
February 2020

Expanding the Clinical Spectrum of -Related Mitochondrial Cytopathy.

Front Neurol 2019 4;10:981. Epub 2019 Oct 4.

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

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http://dx.doi.org/10.3389/fneur.2019.00981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787162PMC
October 2019

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

Neurodevelopmental and associated changes in a patient with Xp22.31 duplication.

Neurol Sci 2020 03 5;41(3):713-716. Epub 2019 Sep 5.

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

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http://dx.doi.org/10.1007/s10072-019-04065-1DOI Listing
March 2020

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

Paraspinal muscle ladybird homeobox 1 (LBX1) in adolescent idiopathic scoliosis: a cross-sectional study.

Spine J 2019 12 14;19(12):1911-1916. Epub 2019 Jun 14.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada; Division of Pediatric Endocrinology, McMaster Children's Hospital, Hamilton, Ontario, Canada; Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.spinee.2019.06.014DOI Listing
December 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

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

Neurology 2019 04 25;92(18):e2109-e2117. Epub 2019 Jan 25.

From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa; Division of Neurology, Department of Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Référence de Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Hadassah Clinical Research Center (Y.C.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine (T.M.), Orange. H.L. is currently affiliated with the Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006932DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512882PMC
April 2019

Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C).

Mitochondrion 2019 07 23;47:139-140. Epub 2019 Apr 23.

Depertment of Pediatric Laboratory Medicine, Divison of Clinical Biochemistry, The Hospital for Sick Children, Toronto, Ontario, M5G2L3, Canada.

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http://dx.doi.org/10.1016/j.mito.2019.04.003DOI Listing
July 2019

Nutrition for Ultramarathon Running: Trail, Track, and Road.

Int J Sport Nutr Exerc Metab 2019 Mar 3;29(2):130-140. Epub 2019 Apr 3.

4 Veteran Affairs Northern California Health Care System.

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http://dx.doi.org/10.1123/ijsnem.2018-0255DOI Listing
March 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

ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.

Mov Disord Clin Pract 2018 Nov-Dec;5(6):635-639. Epub 2018 Oct 9.

Morton and Gloria Shulman Movement Disorders Clinic, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, UHN, Division of Neurology University of Toronto Toronto Ontario Canada.

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http://dx.doi.org/10.1002/mdc3.12667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277365PMC
October 2018

Nutrition for Special Populations: Young, Female, and Masters Athletes.

Int J Sport Nutr Exerc Metab 2019 Mar 15;29(2):220-227. Epub 2019 Feb 15.

5 Nottingham Trent University.

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http://dx.doi.org/10.1123/ijsnem.2018-0269DOI Listing
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

Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2018 10;11(10):e002255

Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada (L.Z., R.Y., S.M.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002255DOI Listing
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

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 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

Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome.

Pediatr Neurol 2017 Nov 19;76:82-85. Epub 2017 Jul 19.

Division of Pediatric Neurology, McMaster University, Hamilton, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.07.010DOI Listing
November 2017

Early and lethal neurodegeneration with myasthenic and myopathic features: A new -CDG.

Neurology 2017 Aug 21;89(7):657-664. Epub 2017 Jul 21.

From the Division of Neuropaediatrics and Muscle Disorders (D.C.S., R.K., M. Beytia, J.K.) and Center of Pediatric and Adolescent Medicine (M.K.), Faculty of Medicine, Medical Center, University of Freiburg; Department of Human Genetics (S.R., C.R.M., M. Beytia), Biozentrum, University of Würzburg, Germany; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior (D.J.L.), and Radboud Center for Mitochondrial Medicine, Department of Pediatrics (R.J.R.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (Neuromuscular and Neurometabolic Disorders) (L.B., M.T.), McMaster Children's Hospital, Hamilton, Canada; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Child Neurology (M. Bugiani, M.v.d.K.) and Pathology (M. Bugiani), VU University Medical Center; and Department of Functional Genomics (M.v.d.K.), VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000004234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562963PMC
August 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

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Am J Med Genet A 2017 Jan 15;173(1):126-134. Epub 2016 Sep 15.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37973DOI Listing
January 2017

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