Holger Prokisch

Holger Prokisch

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Holger Prokisch

Publications by authors named "Holger Prokisch"

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PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.

Ann Clin Transl Neurol 2020 Jul 23. Epub 2020 Jul 23.

Center for Medical Biochemistry, Max Perutz Labs, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/acn3.51127DOI Listing
July 2020

The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders.

Clin Lab Med 2020 Jun;40(2):121-133

Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstraße 1, 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.cll.2020.02.004DOI Listing
June 2020

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

EBioMedicine 2020 Jun 23;56:102784. Epub 2020 May 23.

Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Trogerstraße 32, 81675 München, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Ingolstaedter Landstraße 1, D-85764 Neuherberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2020.102784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248429PMC
June 2020

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

EBioMedicine 2020 Apr 16;54:102730. Epub 2020 Apr 16.

Friedrich-Baur-Institute, Department of Neurology, University Hospital, LMU Munich, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2020.102730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163308PMC
April 2020

Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease?

Front Genet 2020;11:288. Epub 2020 Mar 20.

Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.3389/fgene.2020.00288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099980PMC
March 2020

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Brain 2020 02;143(2):e8

Institute of Human Genetics, Technische Universität München, München, Germany.

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http://dx.doi.org/10.1093/brain/awz375DOI Listing
February 2020

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175PMC
February 2020

ncRNAs: New Players in Mitochondrial Health and Disease?

Front Genet 2020 28;11:95. Epub 2020 Feb 28.

Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.3389/fgene.2020.00095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059738PMC
February 2020

The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.

J Inherit Metab Dis 2020 Jan 25;43(1):25-35. Epub 2019 Jun 25.

Institute of Human Genetics, Technische Universität München, München, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12130
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http://dx.doi.org/10.1002/jimd.12130DOI Listing
January 2020

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Am J Hum Genet 2020 01 19;106(1):92-101. Epub 2019 Dec 19.

Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042492PMC
January 2020

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Am J Hum Genet 2020 01 26;106(1):102-111. Epub 2019 Dec 26.

Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042493PMC
January 2020

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI.

Sci Adv 2019 09 4;5(9):eaaw3095. Epub 2019 Sep 4.

Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK.

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http://dx.doi.org/10.1126/sciadv.aaw3095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904961PMC
September 2019

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 07 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.

Am J Hum Genet 2018 12 29;103(6):907-917. Epub 2018 Nov 29.

Department of Informatics, Technical University of Munich, Boltzmannstr. 3, 85748 Garching, Germany; Quantitative Biosciences Munich, Gene Center, Department of Biochemistry, Ludwig-Maximilians Universität München, Feodor-Lynen-Str. 25, 81377 München, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183040
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http://dx.doi.org/10.1016/j.ajhg.2018.10.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288422PMC
December 2018

Severe ichthyosis in MPDU1-CDG.

J Inherit Metab Dis 2018 11 2;41(6):1293-1294. Epub 2018 May 2.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s10545-018-0189-9DOI Listing
November 2018

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.

Essays Biochem 2018 07 20;62(3):399-408. Epub 2018 Jul 20.

Institute of Human Genetics, Technische Universität München, München 48559, Germany.

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http://dx.doi.org/10.1042/EBC20170110DOI Listing
July 2018

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.

J Inherit Metab Dis 2018 05 25;41(3):525-532. Epub 2018 Jan 25.

Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.

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http://dx.doi.org/10.1007/s10545-017-0133-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959960PMC
May 2018

Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer.

Methods Mol Biol 2017 ;1567:217-230

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Enviromental Health, 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1007/978-1-4939-6824-4_13DOI Listing
February 2018

Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq.

Methods Mol Biol 2017 ;1567:379-390

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1007/978-1-4939-6824-4_23DOI Listing
February 2018

Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.

Methods Mol Biol 2017 ;1567:391-406

Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1007/978-1-4939-6824-4_24DOI Listing
February 2018

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Neuropediatrics 2018 02 15;49(1):59-62. Epub 2017 Sep 15.

Institute of Human Genetics, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1606370DOI Listing
February 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

Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure.

Hypertension 2017 10 7;70(4):743-750. Epub 2017 Aug 7.

From the General and Interventional Cardiology, University Heart Center Hamburg, Germany (T.Z., C.M., A.J., M.K., J.T.N., R.B.S., F.O., S.B.); DZHK (German Centre for Cardiovascular Research), Germany (T.Z., C.S., C.M., P.S.W., A.T., A.S., A.K., A.J., M.K., J.T.N., T.K., R.B.S., M.D., T.M., K.J.L., S.B.F., U.L., A.Z., U.V., S.B.); Institute of Human Genetics (K.S., T.M., H.P.), Molecular Epidemiology (C.G., S.W.), and Institute of Epidemiology II (C.G., S.W.), Helmholtz Zentrum München, Germany; Institut für Medizinische Biometrie und Statistik, Universitätsklinikum Schleswig-Holstein, Germany (C.M., A.S., A.Z.); Institute for Translational Genomics and Population Sciences, UCLA Medical Center (S.K., J.I.R., X.G.); Preventive Cardiology and Preventive Medicine (P.S.W.), Institute of Clinical Chemistry and Laboratory Medicine (K.J.L.), and Center for Thrombosis and Hemostasis (P.S.W.), University Medical Center of the Johannes Gutenberg-University Mainz, Germany; Institute for Community Medicine (A.T.) and Department of Internal Medicine B (M.D., S.B.F.), University Medicine Greifswald, Germany; Interfaculty Institute for Genetics and Functional Genomics, University Greifswald, Germany (C.S., T.K., U.V., G.H.); Department of Internal Medicine (D.H., J.D.) and Department of Epidemiology and Prevention (Y.L.), Wake Forest School of Medicine, Winston-Salem, NC; Department of Epidemiology and Prevention, IRCCS Istituto Neurologico Mediterraneo Neuromed, Pozzilli IS, Italy (L.I., S.C.); Department of Cardiology and Pneumology, Charite, Universitätsmedizin Berlin, Germany (A.K., U.L.); National Institute for Health and Welfare, Helsinki, Finland (K.K.); Institute for Clinical Diabetology, German Diabetes Center, Duesseldorf, Germany (M.R., M.C.-K., C.H.); Department of Endocrinology and Diabetology, Medical Faculty Düsseldorf, Germany (M.R.); German Center for Diabetes Research (DZD), Munich, Germany (M.R., S.W., M.C.-K., C.H.); Sorbonne Universités, UPMC, INSERM, UMR_S 1166, ICAN Institute for Cardiometabolism and Nutrition, Paris, France (D.-A.T.); Institute of Human Genetics, Technische Universität München, Germany (T.M., P.W., H.P.); ZIK_FunGene, Universität Greifswald, Germany (U.V., G.H.); and Columbia University Medical Center, New York, NY (W.P.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.117.09458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997260PMC
October 2017

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Mitochondrion 2017 09 6;36:15-20. Epub 2016 Oct 6.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians-Universität München, Munich, Germany; DZNE-German Center for Neurodegenerative Diseases, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.10.002DOI Listing
September 2017

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.

Biochim Biophys Acta Mol Basis Dis 2017 09 22;1863(9):2220-2228. Epub 2017 May 22.

Institute of Human Genetics, Technical University Munich, Trogerstr. 32, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum Munich, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.05.018DOI Listing
September 2017

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2017 09;58(11):4457-4466

University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.17-22077DOI Listing
September 2017

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Neuropediatrics 2017 08 9;48(4):309-314. Epub 2017 Jun 9.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

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http://dx.doi.org/10.1055/s-0037-1603776DOI Listing
August 2017

Detection of 6-demethoxyubiquinone in CoQ deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Mol Genet Metab 2017 07 20;121(3):216-223. Epub 2017 May 20.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173010
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http://dx.doi.org/10.1016/j.ymgme.2017.05.012DOI Listing
July 2017

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Neurogenetics 2017 Jul 29;18(3):175-178. Epub 2017 Jun 29.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Via L. Temolo n. 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-017-0518-4DOI Listing
July 2017

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Authors:
Rhea van den Bruck Patrick P Weil Thomas Ziegenhals Philipp Schreiner Stefan Juranek Daniel Gödde Silvia Vogel Frauke Schuster Valerie Orth Johannes Dörner Daniel Pembaur Meike Röper Stefan Störkel Hubert Zirngibl Stefan Wirth Andreas C W Jenke Jan Postberg Nikolas Boy Jana Heringer Gisela Haege Esther M Glahn Georg F Hoffmann Sven F Garbade Peter Burgard Stefan Kölker Cho-Ming Chao Faady Yahya Alena Moiseenko Amit Shrestha Negah Ahmadvand Jennifer Quantius Jochen Wilhelm Elie El-Agha Klaus-Peter Zimmer Saverio Bellusci Christian Staufner Stefan Kölker Holger Prokisch Georg F Hoffmann Stephan Seeliger Matthias Müller Andreas Hippe Henrik Steinkraus Roland Wauer Burkhard Lachmann Sigrun R Hofmann Christian M Hedrich Jakob Zierk Farhad Arzideh Rainer Haeckel Wolfgang Rascher Manfred Rauh Markus Metzler Sebastian Thieme Joanna Bandoła Cornelia Richter Martin Ryser Arshad Jamal Michelle P Ashton Malte von Bonin Matthias Kuhn Christian M Hedrich Ezio Bonifacio Reinhard Berner Sebastian Brenner Johanna Hammersen Cristina Has Nora Naumann-Bartsch Daniel Stachel Dimitra Kiritsi Stephan Söder Mathilde Tardieu Markus Metzler Leena Bruckner-Tuderman Holm Schneider F Bohne D Langer R Cencic T Eggermann U Zechner J Pelletier F Zepp T Enklaar D Prawitt Martin Pech Markus Weckmann Femke-Anouska Heinsen Andre Franke Christine Happle Anna-Maria Dittrich Gesine Hansen Oliver Fuchs Erika von Mutius Brian G Oliver Matthias V Kopp Claudia Paret Alexandra Russo Johanna Theruvath Bettina Keller Khalifa El Malki Nadine Lehmann Arthur Wingerter Marie A Neu Gerhold-Ay Aslihan Wolfgang Wagner Clemens Sommer Torsten Pietsch Larissa Seidmann Jörg Faber Felix Schreiner Merle Ackermann Michael Michalik Eva Rother Andras Bilkei-Gorzo Ildiko Racz Laura Bindila Beat Lutz Jörg Dötsch Andreas Zimmer Joachim Woelfle Hendrik S Fischer Tim L Ullrich Christoph Bührer Christoph Czernik Gerd Schmalisch Robert Stein Sigrun R Hofmann Judith Hagenbuchner Ursula Kiechl-Kohlendorfer Petra Obexer Michael J Ausserlechner Niki T Loges Adrien Tobias Frommer Julia Wallmeier Heymut Omran Soner Öner-Sieben Martina Gimpfl Jan Rozman Martin Irmler Johannes Beckers Martin Hrabe De Angelis Adelbert Roscher Eckhard Wolf Regina Ensenauer Karolina Nemes Michael Frühwald Martin Hasselblatt Reiner Siebert Uwe Kordes Marcel Kool Haicui Wang Holly Hardy Osama Refai Katy E S Barwick Holly H Zimmerman Joachim Weis Emma L Baple Andrew H Crosby Sebahattin Cirak C Hellmuth O Uhl M Standl J Heinrich E Thiering B Koletzko Lena Blümel Kornelius Kerl Daniel Picard Michael C Frühwald Max C Liebau Guido Reifenberger Arndt Borkhardt Martin Hasselblatt Marc Remke D Tews M Wabitsch P Fischer-Posovszky Mike-Andrew Westhoff Lisa Nonnenmacher Julia Langhans Lukas Schneele Nancy Trenkler Klaus-Michael Debatin

Mol Cell Pediatr 2017 May;4(Suppl 1)

Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

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http://dx.doi.org/10.1186/s40348-017-0071-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435609PMC
May 2017

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Metab Brain Dis 2017 02 8;32(1):267-270. Epub 2016 Aug 8.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s11011-016-9890-2DOI Listing
February 2017

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Brain 2017 02 19;140(2):e11. Epub 2016 Dec 19.

Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1093/brain/aww303DOI Listing
February 2017

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity.

Authors:
Simone Wahl Alexander Drong Benjamin Lehne Marie Loh William R Scott Sonja Kunze Pei-Chien Tsai Janina S Ried Weihua Zhang Youwen Yang Sili Tan Giovanni Fiorito Lude Franke Simonetta Guarrera Silva Kasela Jennifer Kriebel Rebecca C Richmond Marco Adamo Uzma Afzal Mika Ala-Korpela Benedetta Albetti Ole Ammerpohl Jane F Apperley Marian Beekman Pier Alberto Bertazzi S Lucas Black Christine Blancher Marc-Jan Bonder Mario Brosch Maren Carstensen-Kirberg Anton J M de Craen Simon de Lusignan Abbas Dehghan Mohamed Elkalaawy Krista Fischer Oscar H Franco Tom R Gaunt Jochen Hampe Majid Hashemi Aaron Isaacs Andrew Jenkinson Sujeet Jha Norihiro Kato Vittorio Krogh Michael Laffan Christa Meisinger Thomas Meitinger Zuan Yu Mok Valeria Motta Hong Kiat Ng Zacharoula Nikolakopoulou Georgios Nteliopoulos Salvatore Panico Natalia Pervjakova Holger Prokisch Wolfgang Rathmann Michael Roden Federica Rota Michelle Ann Rozario Johanna K Sandling Clemens Schafmayer Katharina Schramm Reiner Siebert P Eline Slagboom Pasi Soininen Lisette Stolk Konstantin Strauch E-Shyong Tai Letizia Tarantini Barbara Thorand Ettje F Tigchelaar Rosario Tumino Andre G Uitterlinden Cornelia van Duijn Joyce B J van Meurs Paolo Vineis Ananda Rajitha Wickremasinghe Cisca Wijmenga Tsun-Po Yang Wei Yuan Alexandra Zhernakova Rachel L Batterham George Davey Smith Panos Deloukas Bastiaan T Heijmans Christian Herder Albert Hofman Cecilia M Lindgren Lili Milani Pim van der Harst Annette Peters Thomas Illig Caroline L Relton Melanie Waldenberger Marjo-Riitta Järvelin Valentina Bollati Richie Soong Tim D Spector James Scott Mark I McCarthy Paul Elliott Jordana T Bell Giuseppe Matullo Christian Gieger Jaspal S Kooner Harald Grallert John C Chambers

Nature 2017 01 21;541(7635):81-86. Epub 2016 Dec 21.

Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London W2 1PG, UK.

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http://dx.doi.org/10.1038/nature20784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570525PMC
January 2017

DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases.

Genome Biol 2016 12 12;17(1):255. Epub 2016 Dec 12.

Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13059-016-1119-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5151130PMC
December 2016

The many faces of paediatric mitochondrial disease on neuroimaging.

Childs Nerv Syst 2016 Nov 23;32(11):2077-2083. Epub 2016 Jul 23.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s00381-016-3190-3DOI Listing
November 2016

Mitochondrial replacement approaches: challenges for clinical implementation.

Genome Med 2016 11 25;8(1):126. Epub 2016 Nov 25.

Institute of Human Genetics, Technical University Munich, Munich, 81675, Germany.

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http://dx.doi.org/10.1186/s13073-016-0380-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5124262PMC
November 2016

Genetic cause and prevalence of hydroxyprolinemia.

J Inherit Metab Dis 2016 09 2;39(5):625-632. Epub 2016 May 2.

Department of General Pediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany.

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http://doi.wiley.com/10.1007/s10545-016-9940-2
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http://dx.doi.org/10.1007/s10545-016-9940-2DOI Listing
September 2016

Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice.

Diabetes 2016 09 9;65(9):2540-52. Epub 2016 Jun 9.

Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg, Germany German Center for Diabetes Research (DZD e.V.), Neuherberg, Germany German Mouse Clinic, Helmholtz Zentrum München, Neuherberg, Germany Center of Life and Food Sciences Weihenstephan, Technische Universität München, Freising, Germany

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http://diabetes.diabetesjournals.org/content/diabetes/early/
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http://dx.doi.org/10.2337/db15-1670DOI Listing
September 2016

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

J Hepatol 2016 08 2;65(2):377-85. Epub 2016 May 2.

Inserm UMR 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Institut Cochin, Paris, France; Université Paris V René Descartes, Institut Cochin, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2016.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640785PMC
August 2016