Michio Hirano

Michio Hirano

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Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure.

Thorax 2019 Nov 18;74(11):1099-1101. Epub 2019 Sep 18.

Department of Medicine, Division of Pulmonary, Allergy, and Critical Care, Columbia University, New York, New York, USA

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http://dx.doi.org/10.1136/thoraxjnl-2019-213621DOI Listing
November 2019

Human aging DNA methylation signatures are conserved but accelerated in cultured fibroblasts.

Epigenetics 2019 Oct 12;14(10):961-976. Epub 2019 Jun 12.

a Department of Psychiatry, Division of Behavioral Medicine, Columbia University Irving Medical Center , New York , NY , USA.

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http://dx.doi.org/10.1080/15592294.2019.1626651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691995PMC
October 2019

Advances in primary mitochondrial myopathies.

Curr Opin Neurol 2019 Oct;32(5):715-721

Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1097/WCO.0000000000000743DOI Listing
October 2019

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Parkinsonism Relat Disord 2019 Sep 28;68:8-16. Epub 2019 Sep 28.

Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA, USA; Division of Neurology Rady Children's Hospital, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.09.015DOI Listing
September 2019

Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Hum Gene Ther 2019 Aug 24;30(8):985-998. Epub 2019 Apr 24.

1Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain; Paris, France.

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http://dx.doi.org/10.1089/hum.2018.217DOI Listing
August 2019

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency.

EBioMedicine 2019 Aug 2;46:356-367. Epub 2019 Aug 2.

Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.07.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710986PMC
August 2019

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

PLoS One 2018 29;13(8):e0203198. Epub 2018 Aug 29.

Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203198PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114919PMC
February 2019

Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography.

iScience 2018 Aug 20;6:83-91. Epub 2018 Jul 20.

Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA; Department of Cell Biology, University of Pittsburgh, Pittsburgh, PA 15213, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2018.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137323PMC
August 2018

Emerging therapies for mitochondrial diseases.

Essays Biochem 2018 07 20;62(3):467-481. Epub 2018 Jul 20.

Department of Neurology, Columbia University Medical Center, New York, NY, U.S.A.

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http://dx.doi.org/10.1042/EBC20170114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104515PMC
July 2018

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.

Hum Gene Ther 2018 06 26;29(6):708-718. Epub 2018 Feb 26.

1 Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona , Barcelona, Spain .

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http://dx.doi.org/10.1089/hum.2017.133DOI Listing
June 2018

Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.

Neurol Genet 2018 Apr 26;4(2):e230. Epub 2018 Mar 26.

Mailman School of Public Health (J.G., E.S., J.L.P.T.) and College of Physicians and Surgeons (M.H.), Columbia University Medical Center, New York, NY. J. Grier is now with DOCS GLOBAL, Raleigh, NC; and Massachussetts General Hospital (A.K.), Harvard University, Boston.

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http://dx.doi.org/10.1212/NXG.0000000000000230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873725PMC
April 2018

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.

Neuromuscul Disord 2017 12 8;27(12):1126-1137. Epub 2017 Sep 8.

Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1016/j.nmd.2017.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094160PMC
December 2017

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.

Ann Neurol 2017 May 4;81(5):641-652. Epub 2017 May 4.

Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.1002/ana.24922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926768PMC
May 2017

Cardiac transplantation in Friedreich Ataxia: Extended follow-up.

J Neurol Sci 2017 Apr 10;375:471-473. Epub 2017 Jan 10.

Department of Pediatrics and Neurology, The Children's Hospital of Philadelphia, PA, United States; Perelman School of Medicine University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.01.027DOI Listing
April 2017

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.

J Child Neurol 2017 02 28;32(2):246-250. Epub 2016 Sep 28.

1 Department of Neurology, Columbia University Medical Center, New York, NY, USA.

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http://journals.sagepub.com/doi/10.1177/0883073816666221
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http://dx.doi.org/10.1177/0883073816666221DOI Listing
February 2017

Advances in purine and pyrimidine metabolism in health and diseases.

Nucleosides Nucleotides Nucleic Acids 2016 Dec;35(10-12):495-501

b Department of Medical Oncology , VU University Medical Center , Amsterdam , The Netherlands.

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http://dx.doi.org/10.1080/15257770.2016.1218022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935111PMC
December 2016

Mitochondrial Diseases: A Clinical and Molecular History.

Pediatr Neurol 2016 10 2;63:3-5. Epub 2016 Jun 2.

Department of Pediatrics and Neurology, The Brooklyn Hospital Center, Icahn School of Medicine at Mount Sinai, New York City, New York.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.05.014DOI Listing
October 2016

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Hum Mol Genet 2016 10 4;25(19):4256-4265. Epub 2016 Aug 4.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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http://dx.doi.org/10.1093/hmg/ddw257DOI Listing
October 2016

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Eur J Med Genet 2016 Oct 31;59(10):540-5. Epub 2016 Aug 31.

Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045816PMC
http://dx.doi.org/10.1016/j.ejmg.2016.08.012DOI Listing
October 2016

Mitochondrial diseases.

Nat Rev Dis Primers 2016 10 20;2:16080. Epub 2016 Oct 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1038/nrdp.2016.80DOI Listing
October 2016

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability.

EMBO J 2016 09 19;35(18):1979-90. Epub 2016 Jul 19.

Departments of Cardiovascular Diseases, Molecular Pharmacology and Experimental Therapeutics, Division of General Internal Medicine, Division of Pediatric Cardiology, and Transplant Center, Mayo Clinic Center for Regenerative Medicine, Rochester, MN, USA

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http://dx.doi.org/10.15252/embj.201694892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282833PMC
September 2016

Mitochondrial disease patients' perception of dietary supplements' use.

Mol Genet Metab 2016 09 16;119(1-2):100-8. Epub 2016 Jul 16.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031526PMC
September 2016

Disentangling (Epi)Genetic and Environmental Contributions to the Mitochondrial 3243A>G Mutation Phenotype: Phenotypic Destiny in Mitochondrial Disease?

JAMA Neurol 2016 08;73(8):923-5

H. Houston Merritt Center, Columbia Translational Neuroscience Initiative, Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1001/jamaneurol.2016.1676DOI Listing
August 2016

Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes.

Cell Stem Cell 2016 06 19;18(6):749-54. Epub 2016 May 19.

The New York Stem Cell Foundation Research Institute, New York, NY 10032, USA; Naomi Berrie Diabetes Center, Columbia University, Department of Pediatrics, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2016.04.001DOI Listing
June 2016

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

J Neurol Neurosurg Psychiatry 2016 Apr 7;87(4):448-50. Epub 2015 May 7.

Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland Department of Neurology, Vasa Central Hospital, Vasa, Finland.

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http://jnnp.bmj.com/content/87/4/448.full.pdf
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-309349
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http://dx.doi.org/10.1136/jnnp-2014-309349DOI Listing
April 2016

A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children.

Child Neurol Open 2016 Jan-Dec;3:2329048X15627937. Epub 2016 Apr 4.

Department of Neurology, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1177/2329048X15627937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417276PMC
April 2016

Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Dec 9;15(7-8):581-7. Epub 2014 May 9.

Department of Pathology and Cell Biology, Center for Motor Neuron Biology and Disease and the Columbia Translational Neuroscience Initiative, Columbia University Medical Center , New York.

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http://dx.doi.org/10.3109/21678421.2014.907319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372808PMC
December 2014

Thymidine phosphorylase participates in platelet signaling and promotes thrombosis.

Circ Res 2014 Dec 6;115(12):997-1006. Epub 2014 Oct 6.

From the Department of Cellular and Molecular Medicine, Lerner Research Institute, The Cleveland Clinic, OH (W.L., T.M.M.); Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, OH (W.L., T.M.M.); Instituto de Quimica Medica, Consejo Superior De Investigaciones Cientificas (IQM-CSIC), Madrid, Spain (A.G.,M.-J.P.-P.); Department of Biological Sciences, Case Western Reserve University, Cleveland, OH (H.Y.); Department of Neurology, Columbia University Medical Center, New York, NY (M.H.); and Department of Medicine, Medical College of Wisconsin and Blood Research Institute, Blood Center of Wisconsin, Milwaukee (R.L.S.).

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http://circres.ahajournals.org/content/early/2014/10/06/CIRC
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http://circres.ahajournals.org/cgi/doi/10.1161/CIRCRESAHA.11
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http://dx.doi.org/10.1161/CIRCRESAHA.115.304591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258140PMC
December 2014

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Muscle Nerve 2014 Aug;50(2):292-5

Department of Neurology, Columbia University Medical Center, College of Physicians & Surgeons, 630 West 168th Street, New York, New York, USA.

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http://dx.doi.org/10.1002/mus.24262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107085PMC
August 2014

Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: proposal of a clinical algorithm.

Dig Liver Dis 2014 Jul 13;46(7):664-5. Epub 2014 Apr 13.

Department of Medicine II, Saarland University Medical Center, Homburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S15908658140028
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http://dx.doi.org/10.1016/j.dld.2014.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053673PMC
July 2014

Clinical presentations of coenzyme q10 deficiency syndrome.

Mol Syndromol 2014 Jul;5(3-4):141-6

Department of Neurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, New York, N.Y., USA.

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http://dx.doi.org/10.1159/000360490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112523PMC
July 2014

Pathomechanisms in coenzyme q10-deficient human fibroblasts.

Mol Syndromol 2014 Jul;5(3-4):163-9

Department of Neurology, Columbia University Medical Center, New York, N.Y., USA.

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https://www.karger.com/Article/FullText/360494
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http://dx.doi.org/10.1159/000360494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112524PMC
July 2014

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Mol Ther 2014 May 22;22(5):901-7. Epub 2014 Jan 22.

1] Mitochondrial Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; [2] Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain;

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http://dx.doi.org/10.1038/mt.2014.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015233PMC
May 2014

Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass.

Authors:
Michio Hirano

Brain 2014 Feb;137(Pt 2):308-9

Columbia University Medical Centre New York, NY USA E-mail:

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http://dx.doi.org/10.1093/brain/awu005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990816PMC
February 2014

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

JAMA Neurol 2013 Nov;70(11):1425-8

Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla/Consejo Superior de Investigaciones Científicas/Universidad de Sevilla, Seville, Spain2Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Ministry of Economy and Competitiveness, Madrid, Spain3Department of Neurology, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1001/jamaneurol.2013.3185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973017PMC
November 2013

New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol 2013 Aug 2;9(8):474-81. Epub 2013 Jul 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nrneurol.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967498PMC
August 2013

The clinical maze of mitochondrial neurology.

Nat Rev Neurol 2013 Aug 9;9(8):429-44. Epub 2013 Jul 9.

College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1038/nrneurol.2013.126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959773PMC
August 2013

Autocrine amplification of integrin αIIbβ3 activation and platelet adhesive responses by deoxyribose-1-phosphate.

Thromb Haemost 2013 Jun 14;109(6):1108-19. Epub 2013 Mar 14.

Department of Pharmacy and Pharmacology, University of Bath, Claverton Campus, BA2 7AY, Bath, UK.

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http://dx.doi.org/10.1160/TH12-10-0751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082634PMC
June 2013

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Brain 2013 May 29;136(Pt 5):1508-17. Epub 2013 Mar 29.

Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca, VHIR, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-129 08035 Barcelona, Spain.

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http://dx.doi.org/10.1093/brain/awt074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634201PMC
May 2013

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

J Child Neurol 2013 Feb 24;28(2):264-8. Epub 2012 Apr 24.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1177/0883073812441067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959766PMC
February 2013

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

FASEB J 2013 Feb 12;27(2):612-21. Epub 2012 Nov 12.

Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1096/fj.12-209361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545522PMC
February 2013

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.

JAMA Neurol 2013 Feb;70(2):258-61

Pediatric Neurology Service, Department of Pediatrics, Universidade Federal de Minas Gerais, Rua Rio Grande do Norte, 57/606 Belo Horizonte, Minas Gerais 30.130-130, Brazil.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2013.595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967497PMC
February 2013

Cerebellar Ataxia and Deficiency.

J Neurol Disord Stroke 2013 ;1(1):1004

Department of Pathology & Cell Biology, Columbia University Medical Center, NY, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130390PMC
January 2013

TK2 mutation presenting as indolent myopathy.

Neurology 2013 Jan 9;80(5):504-6. Epub 2013 Jan 9.

Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.

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http://dx.doi.org/10.1212/WNL.0b013e31827f0ff7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590052PMC
January 2013

Human mitochondrial DNA: roles of inherited and somatic mutations.

Nat Rev Genet 2012 Dec;13(12):878-90

Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, New York 10032, USA.

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http://www.nature.com/articles/nrg3275
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http://dx.doi.org/10.1038/nrg3275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959762PMC
December 2012

A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.

Arch Neurol 2012 Sep;69(9):1190-2

Department ofNeurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, 630W168th St,P&S 4-423, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneurol.2011.2600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961086PMC
September 2012

Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.

PLoS One 2012 16;7(2):e30606. Epub 2012 Feb 16.

Department of Neurology, Columbia University Medical Center, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0030606PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3281033PMC
August 2012

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Biochim Biophys Acta 2012 May 18;1820(5):625-31. Epub 2012 Jan 18.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S03044165120000
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http://dx.doi.org/10.1016/j.bbagen.2012.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319470PMC
May 2012

Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.

Methods Mol Biol 2012 ;837:121-33

Laboratori de Patologia Mitocondrial, Institut de Recerca Hospital Universitari Vall D'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain.

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http://link.springer.com/10.1007/978-1-61779-504-6_8
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http://dx.doi.org/10.1007/978-1-61779-504-6_8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942128PMC
April 2012

Measurement of mitochondrial dNTP pools.

Methods Mol Biol 2012 ;837:135-48

Laboratori de Patologia Mitocondrial, Institut de Recerca Hospital Universitari Vall D'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1007/978-1-61779-504-6_9DOI Listing
April 2012

Primary and secondary CoQ(10) deficiencies in humans.

Biofactors 2011 Sep-Oct;37(5):361-5. Epub 2011 Oct 11.

Department of Neurology, Columbia University Medical Center, New York, USA.

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http://doi.wiley.com/10.1002/biof.155
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http://dx.doi.org/10.1002/biof.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3258494PMC
February 2012

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.

Neuromuscul Disord 2012 Jan 1;22(1):76-86. Epub 2011 Jul 1.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.nmd.2011.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222743PMC
January 2012

A novel gene mutation in a patient with SANDO.

J Exp Integr Med 2012 ;2(2)

Department of Neurology, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.5455/jeim.200312.cr.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832984PMC
January 2012

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

J Hum Genet 2011 Dec 20;56(12):834-9. Epub 2011 Oct 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1038/jhg.2011.112DOI Listing
December 2011

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Brain 2011 Nov 20;134(Pt 11):3326-32. Epub 2011 Sep 20.

Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.

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http://brain.oxfordjournals.org/content/brain/134/11/3326.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awr245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3212717PMC
November 2011

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Muscle Nerve 2011 Sep;44(3):448-51

Department of Neurology, Columbia University Medical Center, 630 West 168th Street, P&S 4-423, New York, New York 10032, USA.

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http://doi.wiley.com/10.1002/mus.22149
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http://dx.doi.org/10.1002/mus.22149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197731PMC
September 2011

Senataxin mutations and amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2011 May 29;12(3):223-7. Epub 2010 Dec 29.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.3109/17482968.2010.545952DOI Listing
May 2011

Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.

Biochem Biophys Res Commun 2011 Apr 5;407(2):333-8. Epub 2011 Mar 5.

Institut de Recerca, Hospital Universitari de la Vall d'Hebron, Barcelona, Spain; Institut de Recerca l'Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.bbrc.2011.03.018DOI Listing
April 2011

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.

Hum Mol Genet 2011 Jan 11;20(1):155-64. Epub 2010 Oct 11.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1093/hmg/ddq453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000681PMC
January 2011

Paracrine stimulation of endothelial cell motility and angiogenesis by platelet-derived deoxyribose-1-phosphate.

Arterioscler Thromb Vasc Biol 2010 Dec 30;30(12):2631-8. Epub 2010 Sep 30.

Department of Veterinary Basic Sciences, Royal Veterinary College, University of London, United Kingdom.

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https://www.ahajournals.org/doi/10.1161/ATVBAHA.110.215855
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December 2010