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2017

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L,  Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H,  Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.  Ann Neurol. 2017  Dec;82(6):1004-1015. doi: 10.1002/ana.25110. PubMed PMID: 29205472; PubMed Central PMCID: PMC5847115. 

 

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

Mancuso M, McFarland R, Klopstock T, Hirano M; consortium on Trial Readiness  in Mitochondrial Myopathies. Neuromuscul  Disord. 2017 Dec;27(12):1126-1137. doi: 10.1016/j.nmd.2017.08.006. Epub 2017 Sep  8. PubMed PMID: 29074296. 

 

Biallelic  C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T,  Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21. PubMed PMID: 28942965; PubMed Central PMCID: PMC5630164. 

 

Biallelic variants in  WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, V Spronsen F, Derks TG, Veenstra-Knol HE, Mayr JA, Rötig A, Tarnopolsky M, Prokisch H, Rodenburg RJ. Hum Mutat. 2017 Dec;38(12):1786-1795. doi: 10.1002/humu.23340. Epub 2017 Oct 6. PubMed PMID: 28905505. 

 

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA. Oxid Med Cell Longev. 2017;2017:7202589. doi: 10.1155/2017/7202589. Epub 2017 Jul 19. PubMed PMID: 28804536; PubMed Central PMCID: PMC5540226. 

 

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated  with Severe Neonatal Encephalopathy.

Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. PubMed PMID: 28757203; PubMed  Central PMCID: PMC5544388. 

 

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf  E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. PubMed PMID: 28604674; PubMed Central PMCID: PMC5499207.

 

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

Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. Neuropediatrics. 2017 Aug;48(4):309-314. doi: 10.1055/s-0037-1603776. Epub 2017 Jun 9. Review. PubMed PMID: 28599323. 

 

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

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 MCV, 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. Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26. PubMed PMID: 28132689; PubMed Central PMCID: PMC5294665. 

 

CAD  mutations and uridine-responsive epileptic encephalopathy.

Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. PubMed PMID: 28007989. 

 

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Brain. 2017 Feb;140(2):e11. doi: 10.1093/brain/aww303. Epub 2016 Dec 19. PubMed PMID: 27993888. 

 

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François  B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM,  Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Am  J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. PubMed PMID: 27989324; PubMed Central PMCID: PMC5223029. 

 

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

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. Eur J Hum Genet. 2017 Feb;25(2):183-191. doi: 10.1038/ejhg.2016.165. Epub 2016 Nov 30. PubMed PMID: 27901041; PubMed Central PMCID: PMC5255962. 

 

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F. Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8. PubMed PMID:  27502409. 

 

Molecular and clinical  spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. PubMed PMID: 28940506. 

 

Detection of 6-demethoxyubiquinone in CoQ(10) deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Herebian D, Seibt A, Smits SHJ, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F. Mol Genet Metab. 2017 Jul;121(3):216-223. doi: 10.1016/j.ymgme.2017.05.012. Epub 2017 May 20. PubMed PMID: 28552678.

 

2016

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
eLife. 2016; 5: e17163.  Published online 2016 Sep 13. doi: 10.7554/eLife.17163Includes additional comments & authors
PMCID: PMC5021520

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood 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                                                                                                                                                                 Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. PubMed
PMID: 27616477.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy                     Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D
Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016
Aug 18. PubMed PMID: 27545681; PubMed Central PMCID: PMC5011045.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ,
Klopstock T
Am J Hum Genet. 2016 Sep 1;99(3):735-43. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. PubMed PMID:
27545679; PubMed Central PMCID: PMC5010644.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2                                                    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.
Am J Hum Genet. 2016 Sep 1;99(3):674-82. doi: 10.1016/j.ajhg.2016.06.027. Epub 2016 Aug 11. PubMed PMID: 27523597; PubMed
Central PMCID: PMC5011043.

Neonatal encephalocardiomyopathy caused by mutations in VARS2                                                                                       Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F Metab Brain Dis. 2016 Aug 8. [Epub ahead of print] PubMed PMID: 27502409.

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function                                                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 JJ, Coon JJ, Pagliarini DJ                                                                                                                                                                                                                Mol Cell. 2016 Aug 18;63(4):621-32. doi: 10.1016/j.molcel.2016.06.033. Epub 2016 Aug 4. PubMed PMID: 27499296; PubMed Central PMCID: PMC4992456.

The many faces of paediatric mitochondrial disease on neuroimaging                                                                                        Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F.                                                     Childs Nerv Syst. 2016 Jul 23. [Epub ahead of print] Review. PubMed PMID: 27449766.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy                                                                                                                                                                    Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C.
Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14. PubMed PMID: 27426735; PubMed Central PMCID: PMC4974065.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype                                   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 JW, 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 MT, Thorburn DR, Taylor RW                                                                       Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30. PubMed PMID:
27374774; PubMed Central PMCID: PMC5005451.

 

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A.
Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016
Jun 30. PubMed PMID: 27374773; PubMed Central PMCID: PMC5005453.

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                                                                                                                                   Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T                 Mitochondrion. 2016 Oct 6. pii: S1567-7249(16)30205-7. doi: 10.1016/j.mito.2016.10.002. PubMed PMID: 27721048.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency                                                                                                                                                               Olsen RK, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.
Am J Hum Genet. 2016 Jun 2;98(6):1130-45. doi: 10.1016/j.ajhg.2016.04.006. PubMed PMID: 27259049; PubMed Central PMCID: PMC4908180.

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting                                                               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.                                                                                                                                   J Hepatol. 2016 Aug;65(2):377-85. doi: 10.1016/j.jhep.2016.04.017. Epub 2016 May 2. PubMed PMID: 27151179.

Genetic cause and prevalence of hydroxyprolinemia
Staufner C, Haack TB, Feyh P, Gramer G, Raga DE, Terrile C, Sauer S, Okun JG, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann GF, Kölker S.
J Inherit Metab Dis. 2016 Sep;39(5):625-32.doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2. PubMed PMID: 27139199.

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk
Nat Commun. 2016; 7: 12039.  Published online 2016 Jun 30. doi: 10.1038/ncomms12039
PMCID: PMC4931328

 

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells
Otten AB, Theunissen TE, Derhaag JG, Lambrichs EH, Boesten IB, Winandy M, van Montfoort AP, Tarbashevich K, Raz E, Gerards M, Vanoevelen JM, van den Bosch BJ, Muller M, Smeets HJ.
Cell Rep. 2016 Jul 19;16(3):622-30. doi: 10.1016/j.celrep.2016.06.023. Epub 2016 Jun 30. PubMed PMID: 27373161.


Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Nat Commun. 2016; 7: 11601.  Published online 2016 May 27. doi: 10.1038/ncomms11601
PMCID: PMC4894980

 

Idebenone in Friedreich ataxia and Leber Hereditary Optic Neuropathy: Close mechanisms, similartherapy ?                               Schiff M, Rustin P.                                                                                                                                                                                  Brain2016Jul;139(Pt 7):e39. doi: 10.1093/brain/aww085. Epub 2016 Apr 19. No abstract available. PMID: 27095078

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor
J Med Genet. 2016 Sep; 53(9): 634–641.  Published online 2016 Apr 18. doi: 10.1136/jmedgenet-2015-103576
PMCID: PMC5013090

 

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function
Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A.
Am J Med Genet A. 2016 Jun;170(6):1603-7. doi: 10.1002/ajmg.a.37624. Epub 2016 Mar 17. PubMed PMID: 26992161.

 

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, Tobias B. Haack
Am J Hum Genet. 2016 Feb 4; 98(2): 358–362.  Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.009
PMCID: PMC4746337

EARS2 mutations cause fata lneonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum
Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.
Metab Brain Dis. 2016 Jun;31(3):717-21. doi: 10.1007/s11011-016-9793-2. Epub 2016 Jan 16. PubMed PMID: 26780086.

 

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB.
J Med Genet. 2016 Apr;53(4):270-8. doi: 10.1136/jmedgenet-2015-103500. Epub 2016 Jan 18. PubMed PMID: 26783368.

 

2015

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
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.
Brain. 2016 Feb;139(Pt 2):346-54. doi: 10.1093/brain/awv350. Epub 2015 Dec 1. PubMed PMID: 26626369.

 

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
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.
Eur J Hum Genet. 2016 Aug;24(8):1112-6. doi: 10.1038/ejhg.2015.264. Epub 2015 Dec 16. PubMed PMID: 26669660; PubMed Central PMCID: PMC4970679.

Peculiarities and pitfalls of quantifying mitochondrial energy metabolism in the skin
René G. Feichtinger, Barbara Kofler
Exp Dermatol. 2016 Feb; 25(2): 101–102.  Published online 2016 Jan 12. doi: 10.1111/exd.12895
PMCID: PMC4738473

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Monika Oláhová, Steven A. Hardy, Julie Hall, John W. Yarham, Tobias B. Haack, William C. Wilson, Charlotte L. Alston, Langping He, Erik Aznauryan, Ruth M. Brown, Garry K. Brown, Andrew A. M. Morris, Helen Mundy, Alex Broomfield, Ines A. Barbosa, Michael A. Simpson, Charu Deshpande, Dorothea Moeslinger, Johannes Koch, Georg M. Stettner, Penelope E. Bonnen, Holger Prokisch, Robert N. Lightowlers, Robert McFarland, Zofia M. A. Chrzanowska-Lightowlers, Robert W. Taylor
Brain. 2015 Dec; 138(12): 3503–3519.  Published online 2015 Oct 28. doi: 10.1093/brain/awv291
PMCID: PMC4655343

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
Christopher A. Powell, Robert Kopajtich, Aaron R. D’Souza, Joanna Rorbach, Laura S. Kremer, Ralf A. Husain, Cristina Dallabona, Claudia Donnini, Charlotte L. Alston, Helen Griffin, Angela Pyle, Patrick F. Chinnery, Tim M. Strom, Thomas Meitinger, Richard J. Rodenburg, Gudrun Schottmann, Markus Schuelke, Nadine Romain, Ronald G. Haller, Ileana Ferrero, Tobias B. Haack, Robert W. Taylor, Holger Prokisch, Michal Minczuk
Am J Hum Genet. 2015 Aug 6; 97(2): 319–328.  doi: 10.1016/j.ajhg.2015.06.011
PMCID: PMC4573257

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch
Am J Hum Genet. 2015 Jul 2; 97(1): 163–169.  doi: 10.1016/j.ajhg.2015.05.009
PMCID: PMC4572578

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies
Jean-Paul Lasserre, Alain Dautant, Raeka S. Aiyar, Roza Kucharczyk, Annie Glatigny, Déborah Tribouillard-Tanvier, Joanna Rytka, Marc Blondel, Natalia Skoczen, Pascal Reynier, Laras Pitayu, Agnès Rötig, Agnès Delahodde, Lars M. Steinmetz, Geneviève Dujardin, Vincent Procaccio, Jean-Paul di Rago
Dis Model Mech. 2015 Jun 1; 8(6): 509–526.  doi: 10.1242/dmm.020438
PMCID: PMC4457039

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9
Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.
Eur J Hum Genet. 2016 Mar;24(3):450-4. doi: 10.1038/ejhg.2015.133. Epub 2015 Jun 17. PubMed PMID: 26081641; PubMed Central PMCID: PMC4755375.

 

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland
J Inherit Metab Dis. Author manuscript; available in PMC 2016 Apr 22.Published in final edited form as: J Inherit Metab Dis. 2015 Sep; 38(5): 905–914. Published online 2015 Apr 14.  doi: 10.1007/s10545-015-9836-6
PMCID: PMC4841446

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
Uwe Ahting, Johannes A. Mayr, Arnaud V. Vanlander, Steven A. Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz A. Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack
Front Genet. 2015; 6: 123.  Published online 2015 Apr 13. doi: 10.3389/fgene.2015.00123
PMCID: PMC4394698

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Johannes Koch, Peter Freisinger, René G Feichtinger, Franz A Zimmermann, Christian Rauscher, Hans P Wagentristl, Vassiliki Konstantopoulou, Rainer Seidl, Tobias B Haack, Holger Prokisch, Uwe Ahting, Wolfgang Sperl, Johannes A Mayr, Esther M Maier
Orphanet J Rare Dis. 2015; 10: 40.  Published online 2015 Apr 2. doi: 10.1186/s13023-015-0254-5
PMCID: PMC4422538

Spectrum of combined respiratory chain defects
Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz A. Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl
J Inherit Metab Dis. 2015; 38(4): 629–640.  Published online 2015 Mar 17. doi: 10.1007/s10545-015-9831-y
PMCID: PMC4493854

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
Tobias B Haack, Christopher B Jackson, Kei Murayama, Laura S Kremer, André Schaller, Urania Kotzaeridou, Maaike C de Vries, Gudrun Schottmann, Saikat Santra, Boriana Büchner, Thomas Wieland, Elisabeth Graf, Peter Freisinger, Sandra Eggimann, Akira Ohtake, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Sascha Sauer, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Oswald Hasselmann, Kirsten Cremer, Beate Albrecht, Dagmar Wieczorek, Hartmut Engels, Dagmar Hahn, Alexander M Zink, Charlotte L Alston, Robert W Taylor, Richard J Rodenburg, Regina Trollmann, Wolfgang Sperl, Tim M Strom, Georg F Hoffmann, Johannes A Mayr, Thomas Meitinger, Ramona Bolognini, Markus Schuelke, Jean-Marc Nuoffer, Stefan Kölker, Holger Prokisch, Thomas Klopstock
Ann Clin Transl Neurol. 2015 May; 2(5): 492–509.  Published online 2015 Mar 13. doi: 10.1002/acn3.189
PMCID: PMC4435704

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency
Manuel Schiff, Birgit Haberberger, Chuanwu Xia, Al-Walid Mohsen, Eric S. Goetzman, Yudong Wang, Radha Uppala, Yuxun Zhang, Anuradha Karunanidhi, Dolly Prabhu, Hana Alharbi, Edward V. Prochownik, Tobias Haack, Johannes Häberle, Arnold Munnich, Agnes Rötig, Robert W. Taylor, Robert D. Nicholls, Jung-Ja Kim, Holger Prokisch, Jerry Vockley
Hum Mol Genet. 2015 Jun 1; 24(11): 3238–3247.  Published online 2015 Feb 26. doi: 10.1093/hmg/ddv074
PMCID: PMC4424958

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A.A.P. Willemsen, Arjan P.M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers
Am J Hum Genet. 2015 Feb 5; 96(2): 245–257.  doi: 10.1016/j.ajhg.2014.12.013
PMCID: PMC4320260

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
Gloria Brea-Calvo, Tobias B. Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl-Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M. Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Placido Navas, Johannes A. Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi
Am J Hum Genet. 2015 Feb 5; 96(2): 309–317.  doi: 10.1016/j.ajhg.2014.12.023
PMCID: PMC4320255

2014

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, Metodi D. Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W. Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr, Sarah F. Pearce, Christopher A. Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W. Sommerville, Angela Pyle, Patrick F. Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, Bénédict Mousson de Camaret, Dominique Chretien, Arnold Munnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M. Strom, Thomas Meitinger, Enrico S. Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B. Haack, Michal Minczuk, Holger Prokisch
Am J Hum Genet. 2014 Dec 4; 95(6): 708–720.  doi: 10.1016/j.ajhg.2014.10.017
PMCID: PMC4259976

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
Matthis Synofzik, Tobias B. Haack, Robert Kopajtich, Matteo Gorza, Doron Rapaport, Markus Greiner, Caroline Schönfeld, Clemens Freiberg, Stefan Schorr, Reinhard W. Holl, Michael A. Gonzalez, Andreas Fritsche, Petra Fallier-Becker, Richard Zimmermann, Tim M. Strom, Thomas Meitinger, Stephan Züchner, Rebecca Schüle, Ludger Schöls, Holger Prokisch
Am J Hum Genet. 2014 Dec 4; 95(6): 689–697.  doi: 10.1016/j.ajhg.2014.10.013Correction in: Am J Hum Genet. 2015 Mar 5; 96(3): 514.
PMCID: PMC4259973

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
Monika Oláhová, Tobias B Haack, Charlotte L Alston, Jessica AC Houghton, Langping He, Andrew AM Morris, Garry K Brown, Robert McFarland, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Holger Prokisch, Robert W Taylor
Eur J Hum Genet. 2015 Jul; 23(7): 935–939.  Published online 2014 Oct 8. doi: 10.1038/ejhg.2014.214
PMCID: PMC4305338

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
Laura Melchionda, Tobias B. Haack, Steven Hardy, Truus E.M. Abbink, Erika Fernandez-Vizarra, Eleonora Lamantea, Silvia Marchet, Lucia Morandi, Maurizio Moggio, Rosalba Carrozzo, Alessandra Torraco, Daria Diodato, Tim M. Strom, Thomas Meitinger, Pinar Tekturk, Zuhal Yapici, Fathiya Al-Murshedi, René Stevens, Richard J. Rodenburg, Costanza Lamperti, Anna Ardissone, Isabella Moroni, Graziella Uziel, Holger Prokisch, Robert W. Taylor, Enrico Bertini, Marjo S. van der Knaap, Daniele Ghezzi, Massimo Zeviani
Am J Hum Genet. 2014 Sep 4; 95(3): 315–325.  doi: 10.1016/j.ajhg.2014.08.003
PMCID: PMC4157140

 

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
Reuter MS, Sass JO, Leis T, Köhler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bähr L, Trollmann R, Uebe S, Ekici AB, Reis A
Am J Med Genet A. 2014 Dec;164A(12):3162-9. doi: 10.1002/ajmg.a.36766. Epub 2014 Sep 23. PubMed PMID: 25251209


Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
Alireza Haghighi, Tobias B Haack, Mehnaz Atiq, Hassan Mottaghi, Hamidreza Haghighi-Kakhki, Rani A Bashir, Uwe Ahting, René G Feichtinger, Johannes A Mayr, Agnès Rötig, Anne-Sophie Lebre, Thomas Klopstock, Andrea Dworschak, Nathan Pulido, Mahmood A Saeed, Nasrollah Saleh-Gohari, Eliska Holzerova, Patrick F Chinnery, Robert W Taylor, Holger Prokisch
Orphanet J Rare Dis. 2014; 9: 119.  Published online 2014 Aug 20. doi: 10.1186/s13023-014-0119-3
PMCID: PMC4167147

Novel (ovario) leukodystrophy related to AARS2 mutations
Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Kim Chapman, Alison Colley, Helena Rocha, Katrin Őunap, Raphael Schiffmann, Ettore Salsano, Mario Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap
Neurology. 2014 Jun 10; 82(23): 2063–2071.  doi: 10.1212/WNL.0000000000000497
PMCID: PMC4118500

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Julie van der Zee, Tim Van Langenhove, Gabor G. Kovacs, Lubina Dillen, William Deschamps, Sebastiaan Engelborghs, Radoslav Matěj, Mathieu Vandenbulcke, Anne Sieben, Bart Dermaut, Katrien Smets, Philip Van Damme, Céline Merlin, Annelies Laureys, Marleen Van Den Broeck, Maria Mattheijssens, Karin Peeters, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Pau Pastor, Cristina Razquin, Sara Ortega-Cubero, Isabel Hernández, Mercè Boada, Agustín Ruiz, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Frederico Simões do Couto, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Caroline Graff, Huei-Hsin Chiang, Håkan Thonberg, Robert Perneczky, Janine Diehl-Schmid, Panagiotis Alexopoulos, Giovanni B. Frisoni, Christian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Tobias B. Haack, Tim M. Strom, Holger Prokisch, Oriol Dols-Icardo, Jordi Clarimón, Alberto Lleó, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Raquel Sanchez-Valle, Albert Llado, Ellen Gelpi, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Eva Parobkova, Gian Maria Fabrizi, Silvia Testi, Eric Salmon, Thomas Ströbel, Patrick Santens, Wim Robberecht, Peter De Jonghe, Jean-Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Kristel Sleegers, Christine Van Broeckhoven
Acta Neuropathol. 2014; 128(3): 397–410.  Published online 2014 Jun 5. doi: 10.1007/s00401-014-1298-7
PMCID: PMC4131163

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada
Eur J Hum Genet. 2015 Feb; 23(2): 159–164.  Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.85
PMCID: PMC4297913

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
Daria Diodato, Federica Invernizzi, Eleonora Lamantea, Gigliola Fagiolari, Rossella Parini, Francesca Menni, Giancarlo Parenti, Lina Bollani, Elisabetta Pasquini, Maria A. Donati, Denise Cassandrini, Filippo M. Santorelli, Tobias B. Haack, Holger Prokisch, Daniele Ghezzi, Costanza Lamperti, Massimo Zeviani
JIMD Rep. 2015; 15: 71–78.  Published online 2014 Apr 17. doi: 10.1007/8904_2014_300
PMCID: PMC4270871

2013

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
Matthis Synofzik, Michael A. Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Durr, Ludger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stevanin, Wilson Marques, Jr., Stephan Züchner
Brain. 2014 Jan; 137(1): 69–77.  Published online 2013 Dec 18. doi: 10.1093/brain/awt326
PMCID: PMC3891450

Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
Gordon J. Hildick-Smith, Jeffrey D. Cooney, Caterina Garone, Laura S. Kremer, Tobias B. Haack, Jonathan N. Thon, Non Miyata, Daniel S. Lieber, Sarah E. Calvo, H. Orhan Akman, Yvette Y. Yien, Nicholas C. Huston, Diana S. Branco, Dhvanit I. Shah, Matthew L. Freedman, Carla M. Koehler, Joseph E. Italiano, Jr., Andreas Merkenschlager, Skadi Beblo, Tim M. Strom, Thomas Meitinger, Peter Freisinger, M. Alice Donati, Holger Prokisch, Vamsi K. Mootha, Salvatore DiMauro, Barry H. Paw
Am J Hum Genet. 2013 Nov 7; 93(5): 906–914.  doi: 10.1016/j.ajhg.2013.09.011
PMCID: PMC3824126

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai, Daniele Ghezzi, Mark A. Johnson, Caroline A. Biagosch, Hanan E. Shamseldin, Tobias B. Haack, Aurelio Reyes, Mai Tsukikawa, Claire A. Sheldon, Satish Srinivasan, Matteo Gorza, Laura S. Kremer, Thomas Wieland, Tim M. Strom, Erzsebet Polyak, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J. Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A. Salih, Emtethal Al-Jishi, Christopher P. Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A. Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A. Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S. Alkuraya, Marni J. Falk, Massimo Zeviani
Am J Hum Genet. 2013 Sep 5; 93(3): 482–495.  doi: 10.1016/j.ajhg.2013.07.016
PMCID: PMC3769923

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
Tobias B. Haack, Robert Kopajtich, Peter Freisinger, Thomas Wieland, Joanna Rorbach, Thomas J. Nicholls, Enrico Baruffini, Anett Walther, Katharina Danhauser, Franz A. Zimmermann, Ralf A. Husain, Jessica Schum, Helen Mundy, Ileana Ferrero, Tim M. Strom, Thomas Meitinger, Robert W. Taylor, Michal Minczuk, Johannes A. Mayr, Holger Prokisch
Am J Hum Genet. 2013 Aug 8; 93(2): 211–223.  doi: 10.1016/j.ajhg.2013.06.006
PMCID: PMC3738821

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease
Cornelia Kornblum, Thomas J Nicholls, Tobias B. Haack, Susanne Schöler, Viktoriya Peeva, Katharina Danhauser, Kerstin Hallmann, Gábor Zsurka, Joanna Rorbach, Arcangela Iuso, Thomas Wieland, Monica Sciacco, Dario Ronchi, Giacomo P. Comi, Maurizio Moggio, Catarina M. Quinzii, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Thomas Klopstock, Tim M. Strom, Thomas Meitinger, Michal Minczuk, Wolfram S. Kunz, Holger Prokisch
Nat Genet. Author manuscript; available in PMC 2013 Aug 1.Published in final edited form as: Nat Genet. 2013 Feb; 45(2): 214–219. Published online 2013 Jan 13.  doi: 10.1038/ng.2501
PMCID: PMC3678843

2012

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene
Ivo Barić, Ksenija Fumić, Danijela Petković Ramadža, Wolfgang Sperl, Franz A Zimmermann, Diana Muačević-Katanec, Zoran Mitrović, Leo Pažanin, Ljerka Cvitanović Šojat, Tihomir Kekez, Željko Reiner, Johannes A Mayr
Eur J Hum Genet. 2013 Aug; 21(8): 871–875.  Published online 2012 Dec 12. doi: 10.1038/ejhg.2012.272
PMCID: PMC3722682

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria
Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker
Am J Hum Genet. 2012 Dec 7; 91(6): 1082–1087.  doi: 10.1016/j.ajhg.2012.10.006
PMCID: PMC3516599

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, Federica Invernizzi, Laura Melchionda, Cristina Dallabona, Tim M. Strom, Rossella Parini, Alberto B. Burlina, Thomas Meitinger, Holger Prokisch, Ileana Ferrero, Massimo Zeviani
Am J Hum Genet. 2012 Jun 8; 90(6): 1079–1087.  doi: 10.1016/j.ajhg.2012.04.011
PMCID: PMC3370278


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