Publikationsliste

Stand: 17.08.2021

  • 03. AUGUST 2021
    Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse
    Neurogenetic. 2021 Aug 3.  [Epub ahead of print] >>PubMed-Link<<
    Maletzko, A., Key, J., Wittig, I., Gispert, S., Koepf, G., Canet-Pons, J., Torres-Odio, S., West, A. P., Auburger, G.
  • 01. AUGUST 2021
    Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
    Mol Genet Metab. 2021 Aug. [Epub ahead of print] >>PubMed-Link<<
    Marisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, Ann Punnoose, Eric Wartchow, Kaz M Knight, Holger Prokisch, Geralyn Creadon-Swindell, Johannes A Mayr, Johan L K Van Hove
  • 21. JULI 2021
    Complexome Profiling: Assembly and Remodeling of Protein Complexes
    Int J Mol Sci. 2021 Jul 21;22(15):7809. [Epub ahead of print] >>PubMed-Link<<
    Ilka Wittig, Pedro Felipe Malacarne
  • 20. JULI 2021
    Natural History of Polymerase Gamma-Related Ataxia
    Mov Disord. 2021 Jul 20. [Epub ahead of print] >>PubMed-Link<<
    Friedemann Bender, Dagmar Timmann, Bart P van de Warrenburg, Astrid D Adarmes-Gómez, Benjamin Bender, Andreas Thieme, Matthis Synofzik, Ludger Schöls
  • 01. JULI 2021
    CEDAR, an online resource for the reporting and exploration of complexome profiling data
    Biochim Biophys Acta Bioenerg. 2021 Jul 1. [Epub ahead of print] >>PubMed-Link<<
    Joeri van Strien, Alexander Haupt, Uwe Schulte, Hans-Peter Braun, Alfredo Cabrera-Orefice, Jyoti S Choudhary, Felix Evers, Erika Fernandez-Vizarra, Sergio Guerrero-Castillo, Taco W A Kooij, Petra Páleníková, Mercedes Pardo, Cristina Ugalde, Ilka Wittig, Lars Wöhlbrand, Ulrich Brandt, Susanne Arnold, Martijn A Huynen
  • 02. JUNI 2021
    Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
    Commun Biol. 2021 Jun 2. [Epub ahead of print] >>PubMed-Link<<
    Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler
  • 01. JUNI 2021
    How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data
    Front Mol Biosci. 2021 Jun 1;8:647277 >>PubMed-Link<<
    Schlieben, L. D., Prokisch, H., Yepez, V. A.
  • 01. JUNI 2021
    Physiological extremes of the human blood metabolome: A metabolomics analysis of highly glycolytic, oxidative, and anabolic athletes
    Physiol Rep. 2021 Jun [Epub ahead of print] >>PubMed-Link<<
    Daniela Schranner, Martin Schönfelder, Werner Römisch-Margl, Johannes Scherr, Jürgen Schlegel, Otto Zelger, Annett Riermeier, Stephanie Kaps, Cornelia Prehn, Jerzy Adamski, Quirin Söhnlein, Fabian Stöcker, Florian Kreuzpointner, Martin Halle, Gabi Kastenmüller, Henning Wackerhage
  • 24. MAI 2021
    Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect ComparisonFront Neurol. 2021 May 24. >>PubMed-Link<<
    Newman NJ, Yu-Wai-Man P, Carelli V, Biousse V, Moster ML, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA
  • 11. MÄRZ 2021
    Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study
    Orphanet J Rare Dis. 2021 Mar 11. >>PubMed-Link<<
    Andrea Rabenstein, Claudia B Catarino, Verena Rampeltshammer, David Schindler, Constanze Gallenmüller, Claudia Priglinger, Oliver Pogarell, Tobias Rüther, Thomas Klopstock
  • 2. MÄRZ 2021
    Genetic basis of mitochondrial diseases
    FEBS Lett. 2021 Mar 2. [Epub ahead of print]  >>PubMed-Link<<
    Mirjana Gusic, Holger Prokisch
  • 3. MÄRZ 2021
    De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
    Brain. 2021 Mar 3.[Epub ahead of print]  >>PubMed-Link<<
    Korbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, Maren Wenzel, Burkhard Adis-Dutschmann, Uwe Ahting, Bader Alhaddad, Astrid Blaschek, Tobias B Haack, Robert Kopajtich, Jessica Lee, Victor Murcia Pienkowski, Agnieszka Pollak, Krystyna Szymanska, Maja Tarailo-Graovac, Robin van der Lee, Clara D van Karnebeek, Thomas Meitinger, Ingeborg Krägeloh-Mann, Katharina Vill
  • 1. MÄRZ 2021
    Plasma metabolites to profile pathways in noncommunicable disease multimorbidity
    Nat Med. 2021 Mar. [Epub ahead of print] >>PubMed-Link<<
    Maik Pietzner, Isobel D Stewart, Johannes Raffler, Kay-Tee Khaw, Gregory A Michelotti, Gabi Kastenmüller, Nicholas J Wareham, Claudia Langenberg
  • 26. FEBRUAR 2021
    The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients
    Ther Adv Neurol Disord. 2021 Feb 26. >>PubMed-Link<<
    Diana Lehmann Urban, Mohamed Mohamed, Albert C Ludolph, Jan Kassubek, Angela Rosenbohm
  • 14. FEBRUAR 2021
    The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines
    J Pathol. 2021 Feb 14.[Epub ahead of print] >>PubMed-Link<<
    Charlotte L Alston, Sarah L Stenton, Gavin Hudson, Holger Prokisch, Robert W Taylor
  • 19. JANUAR 2021
    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
    J Clin Invest. 2021 Jan 19 [Epub ahead of print] >>PubMed-Link<<
    Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, Natalia Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor O Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, Sylvie Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Heon, Yulia S Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Reka Kovacs-Nagy, Tatiana Krylova, Wolfram S Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro F Malacarne, Alessandra Maresca, Johannes A Mayr, Jana Meisterknecht, Tatiana Nevinitsyna, Flavia Palombo, Ben Pode-Shakked, Maria S Shmelkova, Tim M Strom, Francesca Tagliavini, Michal Tzadok, Amelie T van der Ven, Catherine Vignal-Clermont, Matias Wagner, Ekaterina Zakharova, Nino Zhorzholadze, Jen-Michel Rozet, Valerio Carelli, Polina Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch
  • 18. JANUAR 2021
    Detection of aberrant gene expression events in RNA sequencing data
    Nat Protoc. 2021 Jan 18. [Epub ahead of print] >>PubMed-Link<<
    Vicente A Yépez, Christian Mertes, Michaela F Müller, Daniela Klaproth-Andrade, Leonhard Wachutka, Laure Frésard, Mirjana Gusic, Ines F Scheller, Patricia F Goldberg, Holger Prokisch, Julien Gagneur
  • 12. JANUAR 2021
    Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset
    Ophtalmology. 2021 Jan 12 [Epub ahead of print] >>PubMed-Link<<
    Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Mark L Moster, Valerie Biousse, Catherine Vignal-Clermont, Robert C Sergott, Thomas Klopstock, Alfredo A Sadun, Piero Barboni, Adam A DeBusk, Jean François Girmens , Günther Rudolph, Rustum Karanjia, Magali Taiel, Laure Blouin, Gerard Smits, Barrett Katz, José-Alain Sahel, LHON Study Group
  • 21. DEZEMBER 2020
    Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
    Hum Mutat. 2020 Dec 21. [Epub ahead of print] >>PubMed-Link<<
    Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, Robert Kopajtich, Kristl G Claeys, Elżbieta Ciara, Johannes Eisen, Rafał Płoski, Ewa Pronicka, Katarzyna Malczyk, Matias Wagner, Saskia B Wortmann, Holger Prokisch
  • 9. DEZEMBER 2020
    Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
    Sci Transl Med. 2020 Dec 9. [Epub ahead of print] >>PubMed-Link<<
    Patrick Yu-Wai-Man, Nancy J Newman, Valerio Carelli, Mark L Moster, Valerie Biousse, Alfredo A Sadun, Thomas Klopstock, Catherine Vignal-Clermont, Robert C Sergott, Günther Rudolph, Chiara La Morgia, Rustum Karanjia, Magali Taiel, Laure Blouin, Pierre Burguière, Gerard Smits, Caroline Chevalier, Harvey Masonson, Yordak Salermo, Barrett Katz, Serge Picaud, David J Calkins, José-Alain Sahel  –  Paper of the Quarter – Q IV / 2020
  • 26. NOVEMBER 2020
    The Dimensions of Primary Mitochondrial Disorders
    Front Cell Dev Biol. 2020 Nov 26. [Epub ahead of print] >>PubMed-Link<<
    Lea D Schlieben, Holger Prokisch
  • 22. NOVEMBER 2020
    Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
    Mol Genet Metab Rep. 2020 Nov 22. >>PubMed-Link<<
    Lara M Marten, Florian Brinkert, Desirée E C Smith, Holger Prokisch, Maja Hempel, René Santer
  • 1. NOVEMBER 2020
    Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
    Eur J Med Genet. 2020 Nov. [Epub ahead of print] >>PubMed-Link<<
    Sabine Illsinger, G Christoph Korenke, Sylvia Boesch, Michael Nocker, Daniela Karall, Jean M Nuoffer, Lucia Laugwitz, Johannes A Mayr, Sabine Scholl-Bürgi, Peter Freisinger, Tobias Kowald, Stefan Kölker, Holger Prokisch, Tobias B Haack
  • 13. OKTOBRER 2020
    Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis
    Neurol Genet. 2020 Oct 13. eCollection 2020 Dec. >>PubMed-Link<<
    Florentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner
  • 1. OKTOBER 2020
    MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes
    Life Sci Alliance. 2020 Oct 1. [Epub ahead of print] >>PubMed-Link<<
    Ruchika Anand, Arun Kumar Kondadi, Jana Meisterknecht, Mathias Golombek, Oliver Nortmann, Julia Riedel, Leon Peifer-Weiß, Nahal Brocke-Ahmadinejad, David Schlütermann, Björn Stork, Thomas O Eichmann, Ilka Wittig, Andreas S Reichert
  • 24. SEPTEMBER 2020
    Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I
    EMBO Mol Med. 2020 Sep 24. [Epub ahead of print] >>PubMed-Link<<
    Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
  • 25. AUGUST 2020
    Mitochondrial Regulation of the 26S Proteasome
    Cell Rep. 2020 Aug 25. [Epub ahead of print] >>PubMed-Link<<
    Thomas Meul, Korbinian Berschneider, Sabine Schmitt, Christoph H Mayr, Laura F Mattner, Herbert B Schiller, Ayse S Yazgili, Xinyuan Wang, Christina Lukas, Camille Schlesser, Cornelia Prehn, Jerzy Adamski, Elisabeth Graf, Thomas Schwarzmayr, Fabiana Perocchi, Alexandra Kukat, Aleksandra Trifunovic, Laura Kremer, Holger Prokisch, Bastian Popper, Christine von Toerne, Stefanie M Hauck, Hans Zischka, Silke Meiners
  • 6. AUGUST 2020
    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
    Am J Hum Genet. 2020 Aug 6. [Epub ahead of print] >>PubMed-Link<<
    Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack – Paper of the Quarter – Q III / 2020
  • 24. JULI 2020
    The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation
    Biomolecules. 2020 Jul 24. [Epub ahead of print] >>PubMed-Link<<
    Leila Motlagh Scholle, Helena Schieffers, Samiya Al-Robaiy, Annemarie Thaele, Faramarz Dehghani, Diana Lehmann Urban, Stephan Zierz
  • 8. JUNI 2020
    Multiple Pathways Coordinate Assembly of Human Mitochondrial Complex IV and Stabilization of Respiratory Supercomplexes
    EMBO J. 2020 Jun 8. [Epub ahead of print] >>PubMed-Link<<
    Teresa Lobo-Jarne, Rafael Pérez-Pérez, Flavia Fontanesi, Alba Timón-Gómez, Ilka Wittig, Ana Peñas, Pablo Serrano-Lorenzo, Inés García-Consuegra, Joaquín Arenas, Miguel A Martín, Antoni Barrientos, Cristina Ugalde
  • 1. JUNI 2020
    The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders
    Clin Lab Med. 2020 Jun >>Pub-Med-Link<<
    Sarah L Stenton, Holger Prokisch
  • 1. JUNI 2020
    Genetics of mitochondrial diseases: Identifying mutations to help diagnosis
    EBioMedicine. 2020 Jun.  [Epub ahead of print] >>PubMed-Link<<
    Sarah L Stenton, Holger Prokisch
  • 16. APRIL 2020
    Lifetime Risk of Autosomal Recessive Mitochondrial Disorders Calculated From Genetic Databases
    EBioMedicine. 2020 Apr.  [Epub ahead of print] >>PubMed-Link<<
    Jing Tan, Matias Wagner, Sarah L Stenton, Tim M Strom, Saskia B Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock
  • 2. APRIL 2020
    A Salvage Pathway Maintains Highly Functional Respiratory Complex I
    Nat Commun. 2020 Apr 2. >>PubMed-Link<<
    Karolina Szczepanowska, Katharina Senft, Juliana Heidler, Marija Herholz, Alexandra Kukat, Michaela Nicole Höhne, Eduard Hofsetz, Christina Becker, Sophie Kaspar, Heiko Giese, Klaus Zwicker, Sergio Guerrero-Castillo, Linda Baumann, Johanna Kauppila Anastasia Rumyantseva, Stefan Müller, Christian K Frese, Ulrich Brandt, Jan Riemer, Ilka Wittig, Aleksandra Trifunovic
  • 1. APRIL 2020
    Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells
    Nucleic Acid Ther. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<
    Nisha Verwey, Isabella Gazzoli, Sabine Krause, Kamel Mamchaoui, Vincent Mouly, Annemieke Aartsma-Rus
  • 1. APRIL 2020
    Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant
    Neuromuscul Disord. 2020 Apr.  >>PubMed-Link<<
    Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M
  • 10. FEBRUAR 2020
    Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia
    J Cell Mol Med. 2020 Feb 10. [Epub ahead of print] >>PubMed-Link<<
    Szibor M, Schreckenberg R, Gizatullina Z, Dufour E, Wiesnet M, Dhandapani PK, Debska-Vielhaber G, Heidler J, Wittig I, Nyman TA8, Gärtner U, Hall AR, Pell V, Viscomi C, Krieg T, Murphy MP, Braun T, Gellerich FN, Schlüter KD, Jacobs HT.
  • 1. FEBRUAR 2020
    Bioenergetic consequences from xenotopic expression of a tunicate AOX in mouse mitochondria: Switch from RET and ROS to FET
    Biochim Biophys Acta Bioenerg. 2020 Feb 1. [Epub ahead of print] >>PubMed-Link<<
    Szibor M, Gainutdinov T, Fernandez-Vizarra E, Dufour E, Gizatullina Z, Debska-Vielhaber G, Heidler J, Wittig I, Viscomi C, Gellerich F, Moore AL.
  • 30. JANUAR 2020
    Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
    Hum Mutat. 2020 Jan 30. [Epub ahead of print] >>Pub-Med-Link<<
    Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.
  • 13. JANUAR 2020
    Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
    Neurol Genet. 2020 Jan 13 >> PubMed-Link<<
    Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group
  • 2. JANUAR 2020
    Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
    Am J Hum Genet. 2020 Jan 2. [Epub ahead of print] >> PubMed-Link<<
    Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW.
  • 1. JANUAR 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. [Epub ahead of print] >>Pub-Med-Link<<
    Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H.
  • 17. DEZEMBER 2019
    Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy
    Cell Rep. 2019 Dec 17. [Epub ahead of print] >>Pub-Med-Link<<
    Murgia M, Tan J, Geyer PE, Doll S, Mann M, Klopstock T.
  • 13. DEZEMBER 2019
    Consensus-based statements for the management of mitochondrial stroke-like episodes Wellcome Open Res. 2019 Dec 13;4:201. eCollection 2019 >>Pub-Med-Link<<
    Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM.
  • 11. DEZEMBER 2019
    High-resolution cryo-EM Structures of Respiratory Complex I: Mechanism, Assembly, and Disease
    Sci Adv. 2019 Dec 11. [Epub ahead of print] >>PubMed-Link<<
    Kristian Parey, Outi Haapanen, Vivek Sharma, Harald Köfeler, Thomas Züllig, Simone Prinz, Karin Siegmund, Ilka Wittig, Deryck J Mills, Janet Vonck, Werner Kühlbrandt, Volker Zickermann
  • 29. OKTOBER 2019
    Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
    Orphanet J Rare Dis. 2019 Oct 29. >>PubMed-Link<<
    Catania A1, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M.
  • 24. SEPTEMBER 2019
    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
    J Clin Invest. 2019 Sep 24. [Epub ahead of print] >>PubMed-Link<<
    Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Péron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan JA, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page MJ, Boesch S, Wortmann SB, Kopajtich R, Stong N, Sperl W, Davis E, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V – Paper of the month September 2019
  • 20. SEPTEMBER 2019
    Redox-Dependent Loss of Flavin by Mitochondrial Complex I in Brain Ischemia/Reperfusion Injury
    Antioxid Redox Signal. 2019 Sep 20. [Epub ahead of print] >>PubMed-Link<<
    Anna Stepanova, Sergey Sosunov, Zoya Niatsetskaya, Csaba Konrad, Anatoly A Starkov, Giovanni Manfredi, Ilka Wittig, Vadim Ten, Alexander Galkin
  • 20. JANUAR 2019
    Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey
    J Clin Neurosci. 2019 Jan.  >>PubMed-Link<<
    Joshi PR, Deschauer M, Zierz S
  • 1. NOVEMBER 2017
    LYRM7 – associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
    Mitochondrion. 2017 Nov. [Epub ahead of print]
    Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R.
  • 1. JULI 2017
    Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics
    Mol Genet Metab. 2017 Jul. [Epub ahead of print]
    Herebian D, Seibt A, Smits SH, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F.
  • 14. FEBRUAR 2017
    Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency
    Neuromuscul Disord. 2017 Feb 14. pii: S0960-8966(16)30821-5. [Epub ahead of print]
    Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S
  • 1. FEBRUAR 2017
    Treatable mitochondrial diseases: cofactor metabolism and beyond
    Brain. 2017 Feb. [Epub ahead of print]
    Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H.
  • 1. FEBRUAR 2017
    Neonatal encephalocardiomyopathy caused by mutations in VARS2
    Metab Brain Dis. 2017 Feb. [Epub ahead of print]
    Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F.
  • 26. JANUAR 2017
    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
    Am J Hum Genet. 2017 Feb 2;100(2):257-266. Epub 2017 Jan 26.
    Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MC, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M
  • 26. DEZEMBER 2016
    FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons
    Front. Cell. Neurosci., 26 December 2016.
    Julia Higelin, Maria Demestre1, Stefan Putz, Jan P. Delling, Christian Jacob, Anne-Kathrin Lutz, Julia Bausinger, Anne-Kathrin Huber, Moritz Klingenstein, Gotthold Barbi, Günter Speit, Annemarie Huebers, Jochen H. Weishaupt, Andreas Hermann, Stefan Liebau, Albert C. Ludolph2 and Tobias M. Boeckers
  • 30. NOVEMBER 2016
    Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
    Eur J Hum Genet. 2016 Nov 30. [Epub ahead of print]
    Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D.
  • 25. NOVEMBER 2016
    Mitochondrial replacement approaches: challenges for clinical implementation
    Genome Med. 2016 Nov 25;8(1):126.
    Klopstock T, Klopstock B, Prokisch H
  • 1. NOVEMBER 2016
    The many faces of paediatric mitochondrial disease on neuroimaging
    Childs Nerv Syst. 2016 Nov. [Epub ahead of print]
    Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F.
  • 19. OKTOBER 2016
    Peripheral neuropathy in patients with Chronic Progressive External Ophthalmoplegia (CPEO) associated with single and multiple mtDNA deletions
    Neurology Genetics 2016 Oct 19;2(6):e113. >>PubMed-Link<<
    Lehmann D, Kornhuber ME, Clajus C, Deschauer M, Taylor RW, Zierz S.
  • 6. OKTOBER 2016
    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 DANN Mitochondrion. 2016 Oct 6. pii: S1567-7249(16)30205-7. [Epub ahead of print]
    Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.
  • 6. OKTOBER 2016
    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
    Am J Hum Genet. 2016 Oct 6. [Epub ahead of print]
    Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H.
  • 1. SEPTEMBER 2016
    Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
    The American Journal of Human Genetics 99, 16 Sept 01.
    Tobias B. Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S. Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A. Kurian, Susan A. Hayflick, Paola Venco, Valeria Tiranti, Tim M. Strom, Martin Dichgans, Rita Horvath, Elke Holinski-Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J. Carroll, and Thomas Klopstock – Paper of the month September 2016
  • 1. SEPTEMBER 2016
    Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
    Am J Hum Genet. 2016 Sep 1. [Epub ahead of print]
    Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O’Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA.
  • 1. SEPTEMBER 2016
    A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
    J Med Genet. 2016 Sep. [Epub ahead of print]
    Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O’Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW.
  • 18. AUGUST 2016
    Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function
    Mol Cell. 2016 Aug 18. [Epub ahead of print]
    Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ, Pagliarini DJ.
  • 1. AUGUST 2016
    Severe respiratory complex III defect prevents liver adaptation to prolonged fasting
    J Hepatol. 2016 Aug. [Epub ahead of print]
    Kremer LS, L’hermitte-Stead C, Lesimple P, Gilleron M, Filaut S, Jardel C, Haack TB, Strom TM, Meitinger T, Azzouz H, Tebib N, Ogier de Baulny H, Touati G, Prokisch H, Lombès A.
  • 1. AUGUST 2016
    High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
    Eur J Hum Genet. 2016 Aug. [Epub ahead of print]
    Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A.
  • 7. JULI 2016
    Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
    Am J Hum Genet. 2016 Jul 07 [Epub ahead of print]
    Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham J, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan M, Thorburn DR, Taylor RW
  • 30. JUNI 2016
    Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
    Nat Commun. 2016 Jun 30.
    Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M.
  • 1. JUNI 2016
    EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
    Metab Brain Dis. 2016 Jun. [Epub ahead of print]
    Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.
  • 1. MAI 2016
    Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German  registry
    J Neurol. 2016 May. [Epub ahead of print]
    Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T.
  • 1. MÄRZ 2016
    Life span extension by targeting a link between metabolism and histone acetylation in Drosophila
    EMBO Rep. 2016 Mar.
    Peleg S, Feller C, Forne I, Schiller E, Sévin DC, Schauer T, Regnard C, Straub T, Prestel M, Klima C, Schmitt Nogueira M, Becker L, Klopstock T, Sauer U, Becker PB, Imhof A, Ladurner AG.
  • 4. FEBRUAR 2016
    Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
    Am J Hum Genet. 2016 Feb 4. [Epub ahead of print]
    Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB.
  • 1. FEBRUAR 2016
    Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
    Brain. 2016 Feb. [Epub ahead of print]
    Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F
  • 1. JANUAR 2016
    Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
    J Inherit Metab Dis. 2016 Jan. [Epub ahead of print]
    Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.
  • 15. JULI 2015
    TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
    Am J Hum Genet. 2015 Jul 15. pii: S0002-9297(15)00247-5. [Epub ahead of print]
    Powell CA, Kopajtich R, D’Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M.
  • 17. JUNI 2015
    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9
    Eur J Hum Genet. 2015 Jun 17. [Epub ahead of print]
    Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.
  • 9. JUNI 2015
    Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
    Am J Hum Genet. 2015 Jun 9. pii: S0002-9297(15)00195-0. [Epub ahead of print]
    Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H.
  • 1. JUNI 2015
    Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency
    Hum Mol Genet. 2015 Jun 1;24(11):3238-47. Epub 2015 Feb 26.
    Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rotig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.
  • 1. MAI 2015
    Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
    Ann Clin Transl Neurol. 2015 May;2(5):492-509.
    Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kolker S, Prokisch H, Klopstock T.
  • 15. APRIL 2015
    Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy
    European Journal of Human Genetics 23 (2015) 1735-8. >>Journal-Link<<
    Lehmann D, Schubert K, Joshi PR, Hardy S, Tuppen HAL, Baty K, Blakely EL, Bamberg C,  Zierz S, Deschauer M, Taylor RW.
  • 15. APRIL 2015
    MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention
    Hum Mol Genet. 2015 Apr 15;24(8):2247-66. Epub 2014 Dec 30.
    Tischner C, Hofer A, Wulff V, Stepek J, Dumitru I, Becker L, Haack T, Kremer L, Datta AN, Sperl W, Floss T, Wurst W, Chrzanowska-Lightowlers Z, De Angelis MH, Klopstock T, Prokisch H, Wenz T.
  • 14. APRIL 2015
    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
    J Inherit Metab Dis. 2015 Apr 14. [Epub ahead of print]
    Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Burgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R.
  • 13. APRIL 2015
    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
    Front Genet 2015 Apr;6:123. eCollection 2015.
    Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.
  • 2. APRIL 2015
    Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
    Orphanet J Rare Dis. 2015 Apr 2;10:40.
    Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM.
  • 24. MÄRZ 2015
    MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy
    Neurogenetics. 2015 Mar 24. [Epub ahead of print]
    Distelmaier F, Haack TB, Catarino CB, Gallenmuller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T.
  • 10. FEBRUAR 2015
    MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities Neurogenetics. 2015 Feb. [Epub ahead of print]
    Baertling F, Haack TB, Rodenburg RJ, Schaper J, Seibt A, Strom TM, Meitinger T, Mayatepek E, Hadzik B, Selcan G, Prokisch H, Distelmaier F.
  • 5. FEBRUAR 2015
    COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
    Am J Hum Genet. 2015 Feb 5.
    Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D
  • 15. JANUAR 2015
    CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
    Am J Hum Genet. 2015 Feb 5;96(2):245-57. Epub 2015 Jan 15.
    Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA.
  • 15. DEZEMBER 2014
    MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy
    PLoS One. 2014 Dec 15;9(12):e114918. eCollection 2014.
    Becker L, Kling E, Schiller E, Zeh R, Schrewe A, Holter SM, Mossbrugger I, Calzada-Wack J, Strecker V, Wittig I, Dumitru I, Wenz T, Bender A, Aichler M, Janik D, Neff F, Walch A, Quintanilla-Fend L, Floss T, Bekeredjian R, Gailus-Durner V, Fuchs H, Wurst W, Meitinger T, Prokisch H, de Angelis MH, Klopstock T.
  • DEZEMBER 2014
    Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
    Am J Hum Genet. 2014 Dec 4;95(6):708-20.
    Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H –  Paper of the month December 2014
  • 20. NOVEMBER 2014
    Post-translational modification of mitochondria as a novel mode of regulation
    Exp Gerontol 2014.
    Hofer A, Wenz T.
  • 20. NOVEMBER 2014
    Mitochondrial abnormalities in myofibrillar myopathies
    Clin Neuropathol 2014; 33:134-142.
    Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M, Hanisch F.
  • 23. OKTOBER 2014
    Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
    Orphanet J Rare Dis. 2014 Oct 23;9:158.
    Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman MA, Korsten A, De Coo IF, Chinnery PF, Klopstock T.
  • 23. OKTOBER 2014
    Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
    Orphanet J Rare Dis. 2014 Oct 23;9(1):158 [Epub ahead of print]
    Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman M, Korsten A, De Coo IF, Chinnery P, Klopstock T.
  • 8. OKTOBER 2014
    A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
    Eur J Hum Genet. 2014 Oct 8. [Epub ahead of print]
    Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW.
  • 8. OKTOBER 2014
    A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
    Eur J Hum Genet. 2014 Oct 8. [Epub ahead of print]
    Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW
  • 28. SEPTEMBER 2014
    A novel m.7539C>T point mutation in the mt-tRNAAspgene associated with multisystemic mitochondrial disease
    Neuromuscular Disorders 25 (2015) 81-4. >>Pub-Med-Link<<
    Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M.
  • 18. SEPTEMBER 2014
    Glucose substit. prolongs maintenance of energy homeostasis and lifespan of telomere dysfunctional mice
    Nat Commun 2014; 5:4924.
    Missios P, Zhou Y, Guachalla LM, von Figura G, Wegner A, Chakkarappan SR, Binz T, Gompf A, Hartleben G, Burkhalter MD, Wulff V, Gunes C, Sattler RW, Song Z, Illig T, Klaus S, Bohm BO, Wenz T, Hiller K, Rudolph KL.
  • 12. SEPTEMBER 2014
    The ubiquitin-selective chaperone Cdc48/p97 associates with Ubx3 to modulate monoubiquitylation of histone H2B
    Nucleic Acids Res 2014; 42:10975-10986.
    Bonizec M, Herissant L, Pokrzywa W, Geng F, Wenzel S, Howard GC, Rodriguez P, Krause S, Tansey WP, Hoppe T, Dargemont C.
  • 5. SEPTEMBER 2014
    Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration Acta Neuropathol. 2014 Sep;128(3):397-410. Epub 2014 Jun 5.
    van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matej R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernandez I, Boada M, Ruiz A, de Mendonca A, Miltenberger-Miltenyi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schols L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimon J, Lleo A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Strobel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C.
  • 4. SEPTEMBER 2014
    Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency
    Am J Hum Genet 2014; 95:315-325.
    Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.
  • 20. AUGUST 2014
    Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
    Orphanet J Rare Dis. 2014 Aug 20;9:119.
    Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H.
  • 1. AUGUST 2014
    Mitochondrial protein acetylation mediates nutrient sensing of mitochondrial protein synthesis and mitonuclear protein balance.
    IUBMB Life 2014.
    Di Domenico A, Hofer A, Tundo F, Wenz T.
  • 1. JUNI 2014
    ND3, ND1 and 39kDa subunits are more exposed in the de-active form of bovine mitochondrial complex I.
    Biochim Biophys Acta. 2014;1837(6):929-39.
    Babot M, Labarbuta P, Birch A, Kee S, Fuszard M, Botting CH, Wittig I, Heide H, Galkin A.
  • 30. MAI 2014
    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease
    Brain. 2014 Sep;137(Pt 9):e295. Epub 2014 May 30.
    Haack TB, Klee D, Strom TM, Mayatepek E, Meitinger T, Prokisch H, Distelmaier F.
  • 14. MAI 2014
    VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
    Hum Mutat. 2014.
    Diodato D, Melchionda L, Haack T, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D.
  • 7. MAI 2014
    Novel (ovario) leukodystrophy related to AARS2 mutations
    Neurology. 2014.
    Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.
  • 1. MAI 2014
    Defining the action spectrum of potential PGC-1alpha activators on a mitochondrial and cellular level in vivo
    Hum Mol Genet. 2014 May 1;23(9):2400-15.
    Hofer A, Noe N, Tischner C, Kladt N, Lellek V, Schauss A, Wenz T.
  • 17. APRIL 2014
    Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
    JIMD Rep. 2014 Apr 17. [Epub ahead of print]
    Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M.
  • 1. APRIL 2014
    MutationTaster2: mutation prediction for the deep-sequencing age
    Nat Methods. 2014;11(4):361-2.Schwarz JM, Cooper DN, Schuelke M, Seelow D.
    Paper of the month April 2014
  • 1. MÄRZ 2014
    Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
    J Med Genet.2014 Mar;51(3):170-5.
    Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A.
  • 1. MÄRZ 2014
    Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
    Mol Genet Metab. 2014;111(3):342-52.
    Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P.
  • 1. MÄRZ 2014
    Leber’s Hereditary Optic Neuropathy – Phenotype, Genetics, Therapeutic Options
    Klin Monbl Augenheilkd. 2014;231(3):216-21.
    Gallenmüller C,Klopstock T
  • 1. MÄRZ 2014
    Mitochondrial membrane assembly of TMEM70 protein
    Mitochondrion.2014 Mar;15:1-9.
    Kratochvilova H, Hejzlarova K, Vrbacky M, Mracek T, Karbanova V, Tesarova M, Gombitova A, Cmarko D, Wittig I, Zeman J, Houstek J.
  • 1. JANUAR 2014
    Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
    Journal of neurology. 2013.
    Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zuhlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nurnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C.
  • 1. JANUAR 2014
    Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
    J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8.
    Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zuhlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nurnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C.
  • 1. JANUAR 2014
    PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
    Brain.2014 Jan;137(Pt 1):69-77.
    Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W, Jr., Zuchner S.
  • 15. DEZEMBER 2013
    Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors
    Hum Mol Genet.2013 Dec 15;22(24):4871-87.
    Gispert S, Parganlija D, Klinkenberg M, Drose S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Buchel F, Adler T, Hrabe de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G.
  • 2. DEZEMBER 2013
    ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
    J Clin Invest.2013 Dec 2;123(12):5179-89.
    Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschke P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.
  • 1. DEZEMBER 2013
    A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network
    J Med Genet.2013 Dec;50(12):848-58.
    Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Kruger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S.
  • 7. NOVEMBER 2013
    Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4
    American journal of human genetics. 2013;93(5):906-14.
    Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE, Jr., Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH.
  • 1. NOVEMBER 2013
    MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
    Human mutation. 2013;34(11):1501-9.
    Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D.
  • 8. OKTOBER 2013
    Age-related changes in the mitochondrial proteome of the fungus Podospora anserina analyzed by 2D-DIGE and LC-MS/MS
    J Proteomics.2013 Oct 8;91:358-74.
    Chimi MA, Drose S, Wittig I, Heide H, Steger M, Werner A, Hamann A, Osiewacz HD, Brandt U.
  • 1. OKTOBER 2013
    Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series
    Journal of neurology. 2013;260(10):2556-61.
    Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, Klopstock T, Feil K.
  • 1. OKTOBER 2013
    Methods to analyse composition and dynamics of macromolecular complexes
    Biochem Soc Trans.2013 Oct;41(5):1235-41.
    Heide H, Wittig I.
  • 5. SEPTEMBER 2013
    Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
    Am J Hum Genet.2013 Sep 5;93(3):482-95.
    Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M.
  • 1. AUGUST 2013
    Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms
    Brain.2013 Aug;136(Pt 8):2369-78.
    Perier C, Bender A, Garcia-Arumi E, Melia MJ, Bove J, Laub C, Klopstock T, Elstner M, Mounsey RB, Teismann P, Prolla T, Andreu AL, Vila M.
  • 1. AUGUST 2013
    Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
    Hum Mutat. 2013.
    Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.
  • 30. JULI 2013
    ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
    Am J Hum Genet. 2013 Jul 9.
    Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H.
    Paper of the month July 2013
  • 22. JULI 2013
    Flow cytometry for the analysis of alpha-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies
    PLoS One.2013 Jul 22;8(7):e68958.
    Stevens E, Torelli S, Feng L, Phadke R, Walter MC, Schneiderat P, Eddaoudi A, Sewry CA, Muntoni F.
  • 2. JULI 2013
    New treatments for mitochondrial disease-no time to drop our standards
    Nat Rev Neurol. 2013 Jul 2.
    Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF
  • 1. JUNI 2013
    beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
    Brain: a journal of neurology. 2013;136(Pt 6):1708-17.
    Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Heron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.
  • 6. APRIL 2013
    Lewy body pathology is associated with mitochondrial DNA damage in Parkinson’s disease
    Neurobiol Aging. 2013 Sep;34(9):2231-3. Epub 2013 Apr 6.
    Muller SK, Bender A, Laub C, Hogen T, Schlaudraff F, Liss B, Klopstock T, Elstner M
  • 1. MÄRZ 2013
    Effects of idebenone on color vision in patients with leber hereditary optic neuropathy
    J Neuroophthalmol. 2013 Mar;33(1):30-6.
    Rudolph G, Dimitriadis K, Buchner B, Heck S, Al-Tamami J, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T
  • 1. FEBRUAR 2013
    Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion
    Acta Neuropathol. 2013 Feb;125(2):245-56.
    Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS.
  • 1. FEBRUAR 2013
    Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
    Movement disorders : official journal of the Movement Disorder Society. 2013;28(2):224-7.
    Schulte EC, Claussen MC, Jochim A,Haack T,Hartig M,Hempel M,Prokisch H, Haun-Junger U, Winkelmann J, Hemmer B, Forschler A, Ilg R.
  • 1. FEBRUAR 2013
    Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy
    Brain. 2013 Feb;136(Pt 2):e230. Epub 2013 Feb 6.
    Klopstock T, Metz G, Yu-Wai-Man P, Buchner B, Gallenmuller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF: Brain 2013, 136:e230
  • 13. JANUAR 2013
    Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
    H. Nat Genet. 2013 Jan 13. [Epub ahead of print]
    Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, Dimauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch
  • 1. JANUAR 2013
    APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria
    PLoS One. 2013;8(5):e63683.
    Weber TA, Koob S, Heide H, Wittig I, Head B, van der Bliek A, Brandt U, Mittelbronn M, Reichert AS.
  • 1. JANUAR 2013
    miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors
    Orphanet J Rare Dis. 2013;8:55.
    Harafuji N,Schneiderat P, Walter MC, Chen YW.
  • 1. JANUAR 2013
    Quantification of protein complexes by blue native electrophoresis
    Methods in molecular biology. 2013;1033:363-79.
    Heidler J, Strecker V, Csintalan F, Bleier L, Wittig I.
  • 1. JANUAR 2013
    Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
    J Inherit Metab Dis. 2013 Jan;36(1):55-62.
    Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H.
  • 1. JANUAR 2013
    Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs
    Proteomics. 2013 Jan;13(1):179-95.
    Techritz S, Lutzkendorf S, Bazant E, Becker S, Klose J, Schuelke M.
  • 1. DEZEMBER 2012
    What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?
    Brain. 2012 Dec;135(Pt 12):3614-26.
    Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombes A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmuller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R:
  • 1. APRIL 2012
    Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
    J Med Genet. 2012 Apr;49(4):277-83.
    Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H:
  • 21. DEZEMBER 2011
    Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions
    Mol Brain. 2011 Dec 21;4:43.
    Elstner M, Muller SK, Leidolt L, Laub C, Krieg L, Schlaudraff F, Liss B, Morris C, Turnbull DM, Masliah E, Prokisch H, Klopstock T, Bender Á
  • 7. OKTOBER 2011
    Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
    Am J Hum Genet. 2011 Oct 7;89(4):543-50.
    Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H
  • 25. JULI 2011
    A randomized placebocontrolled trial of idebenone in Leber’s hereditary optic neuropathy Brain. 2011 Sep;134(Pt 9):2677-86. Epub 2011 Jul 25.
    Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, Atawan A, Chattopadhyay S, Schubert M, Garip A, Kernt M, Petraki D, Rummey C, Leinonen M, Metz G, Griffiths PG, Meier T, Chinnery PF
  • 1. JULI 2011
    Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death.
    Acta Neuropathol. 2011 Jul;122(1):75-86. Epub 2011 May 4.
    Elstner M, Morris CM, Heim K, Bender A, Mehta D, Jaros E, Klopstock T, Meitinger T, Turnbull DM, Prokisch H
  • 1. JULI 2011
    Whole blood genome-wide expression profiling and network analysis suggest MELAS master regulators.
    Neurol Res. 2011 Jul;33(6):638-55.
    Mende S, Royer L, Herr A, Schmiedel J, Deschauer M, Klopstock T, Kostic VS, Schroeder M, Reichmann H, Storch A
  • 1. MÄRZ 2011
    POLG mutations causedecreased mitochondrial DNA repopulation rates following induced depletion inhuman fibroblasts
    Biochim Biophys Acta 2011;1812:321-325.
    Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF.
  • 1. JANUAR 2011
    Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
    Nucleic Acids Res. 2011 Jan;39(1):44-58. Epub 2010 Sep 15.
    Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C.
  • 1. JANUAR 2011
    Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
    Brain 2011;134:210-219. Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders
    RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rotig
    A, de Coo IF, Smeets HJ.
  • 1. JANUAR 2011
    NOA1 is an essential GTPase required for mitochondrial protein synthesis
    Mol Biol Cell 2011;22:1-11.
    Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S.