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Items: 27

1.

Miniature integrated micro-spectrometer array for snap shot multispectral sensing.

Danz N, Höfer B, Förster E, Flügel-Paul T, Harzendorf T, Dannberg P, Leitel R, Kleinle S, Brunner R.

Opt Express. 2019 Feb 18;27(4):5719-5728. doi: 10.1364/OE.27.005719.

PMID:
30876168
2.

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Abicht A, Scharf F, Kleinle S, Schön U, Holinski-Feder E, Horvath R, Benet-Pagès A, Diebold I.

Mol Genet Genomic Med. 2018 Nov;6(6):1188-1198. doi: 10.1002/mgg3.500. Epub 2018 Nov 8.

3.

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V.

Sci Rep. 2018 Aug 3;8(1):11682. doi: 10.1038/s41598-018-30143-z.

4.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG.

J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24.

5.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.

6.

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, Goldstein A, Morava E.

Genet Med. 2018 Apr;20(4):444-451. doi: 10.1038/gim.2017.125. Epub 2017 Oct 26.

PMID:
29261183
7.

Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.

8.

Respiratory chain deficiency in nonmitochondrial disease.

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.

Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

9.

Mitochondrial dysfunction in liver failure requiring transplantation.

Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R.

J Inherit Metab Dis. 2016 May;39(3):427-436. doi: 10.1007/s10545-016-9927-z. Epub 2016 Apr 6.

10.

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Claeys KG, Abicht A, Häusler M, Kleinle S, Wiesmann M, Schulz JB, Horvath R, Weis J.

Muscle Nerve. 2016 Aug;54(2):328-33. doi: 10.1002/mus.25125.

PMID:
27015314
11.

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.

Braczynski AK, Vlaho S, Müller K, Wittig I, Blank AE, Tews DS, Drott U, Kleinle S, Abicht A, Horvath R, Plate KH, Stenzel W, Goebel HH, Schulze A, Harter PN, Kieslich M, Mittelbronn M.

Biomed Res Int. 2015;2015:462592. doi: 10.1155/2015/462592. Epub 2015 Oct 13.

12.

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pages A, Abicht A.

Mol Cell Probes. 2015 Oct;29(5):319-22. doi: 10.1016/j.mcp.2015.06.005. Epub 2015 Aug 29.

PMID:
26327357
13.

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, Chinnery PF, Horvath R.

J Neurol. 2015 Jul;262(7):1673-7. doi: 10.1007/s00415-015-7755-y. Epub 2015 May 10.

14.

Unexplained infertility: increased risk for 21-hydroxylase-deficiency in parents and offspring?

Baumgartner-Parzer S, Vytiska-Binsdorfer E, Kleinle S, Heinze G, Vierhapper H.

Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:258-9. doi: 10.1016/j.ejogrb.2014.09.014. Epub 2014 Sep 16. No abstract available.

PMID:
25306100
15.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

16.

Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.

Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.

J Clin Endocrinol Metab. 2009 Oct;94(10):3954-8. doi: 10.1210/jc.2009-0487. Epub 2009 Sep 22.

PMID:
19773403
17.

Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.

Joncourt F, Neuhaus B, Jostarndt-Foegen K, Kleinle S, Steiner B, Gallati S.

Hum Mutat. 2004 Apr;23(4):385-91.

PMID:
15024733
18.

Problems in detecting mosaic DNA methylation in Angelman syndrome.

Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla-Scholz C, Baumer A, Bürger J, Dworniczak B, Gläser D, Holinski-Feder E, Janssen B, Kleinle S, Kochhan L, Krasemann E, Kraus C, Kroisel P, Plendl H, Purmann S, Sander G, Skladny H, Spitzer E, Thamm-Mücke B, Varon-Mateeva R, Weinhäusel A, Weirich H.

Eur J Hum Genet. 2003 Dec;11(12):913-5. No abstract available.

19.

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R.

J Med Genet. 2001 Oct;38(10):665-73.

20.

Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure.

Krähenbühl S, Brandner S, Kleinle S, Liechti S, Straumann D.

Liver. 2000 Jul;20(4):346-8.

PMID:
10959815
21.

Hyperventilation due to mitochondrial myopathy.

Moosmann P, Brandner S, Kleinle S, Frauchiger B.

J R Soc Med. 2000 Jan;93(1):25-6. No abstract available.

22.

Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome.

Krähenbühl S, Kleinle S, Henz S, Leibundgut K, Liechti S, Zimmermann A, Wiesmann U.

J Hepatol. 1999 Sep;31(3):550-5.

PMID:
10488717
23.

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD.

J Med Genet. 1998 Nov;35(11):895-900.

24.

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

Jaksch M, Klopstock T, Kurlemann G, Dörner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Müller-Höcker J, Pongratz D, Gerbitz KD.

Ann Neurol. 1998 Oct;44(4):635-40.

PMID:
9778262
25.

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.

Kleinle S, Schneider V, Moosmann P, Brandner S, Krähenbühl S, Liechti-Gallati S.

Biochem Biophys Res Commun. 1998 Jun 9;247(1):112-5.

PMID:
9636664
26.

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.

Kleinle S, Wiesmann U, Superti-Furga A, Krähenbühl S, Boltshauser E, Reichen J, Liechti-Gallati S.

Hum Genet. 1997 Oct;100(5-6):643-50.

PMID:
9341886
27.

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