Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 22

1.

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

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.

PMID:
30576410
2.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW.

Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20.

3.

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.

Yépez VA, Kremer LS, Iuso A, Gusic M, Kopajtich R, Koňaříková E, Nadel A, Wachutka L, Prokisch H, Gagneur J.

PLoS One. 2018 Jul 11;13(7):e0199938. doi: 10.1371/journal.pone.0199938. eCollection 2018.

4.

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

Kremer LS, Wortmann SB, Prokisch H.

J Inherit Metab Dis. 2018 May;41(3):525-532. doi: 10.1007/s10545-017-0133-4. Epub 2018 Jan 25.

5.

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.

6.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R.

Mitochondrion. 2017 Nov;37:55-61. doi: 10.1016/j.mito.2017.07.001. Epub 2017 Jul 8.

PMID:
28694194
7.

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.

8.

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

Kremer LS, Prokisch H.

Methods Mol Biol. 2017;1567:391-406. doi: 10.1007/978-1-4939-6824-4_24.

PMID:
28276032
9.

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 H.

Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8.

10.

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):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18.

11.

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):674-682. doi: 10.1016/j.ajhg.2016.06.027. Epub 2016 Aug 11.

12.

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 JP, Coon JJ, Pagliarini DJ.

Mol Cell. 2016 Aug 18;63(4):621-632. doi: 10.1016/j.molcel.2016.06.033. Epub 2016 Aug 4.

13.

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.

14.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

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.

Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21.

15.

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.

PMID:
26626369
16.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

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.

Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16.

17.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr 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.

Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11.

18.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

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, Kölker S, Prokisch H, Klopstock T.

Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13.

19.

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

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.

Am J Hum Genet. 2013 Nov 7;93(5):906-14. doi: 10.1016/j.ajhg.2013.09.011. Epub 2013 Oct 10.

20.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

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.

Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29.

21.

Current status and future development of antitubercular chemotherapy.

Kremer LS, Besra GS.

Expert Opin Investig Drugs. 2002 Aug;11(8):1033-49. Review.

PMID:
12150700
22.

[Tuberculous infection of school children at the time of mass BCG vaccination].

Adamova EA, Karakhanova MD, Kremer LS, Kotsobashvili LIa.

Probl Tuberk. 1985;(11):7-9. Russian. No abstract available.

PMID:
3878517

Supplemental Content

Loading ...
Support Center