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Results: 1 to 20 of 176

1.

Mitochondrial dysfunction: a neglected component of skin diseases.

Feichtinger RG, Sperl W, Bauer JW, Kofler B.

Exp Dermatol. 2014 Jun 30. doi: 10.1111/exd.12484. [Epub ahead of print]

PMID:
24980550
[PubMed - as supplied by publisher]
2.

Lipoic acid biosynthesis defects.

Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W.

J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705-8. Epub 2014 Apr 29.

PMID:
24777537
[PubMed - in process]
3.

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

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.

Mol Genet Metab. 2014 Mar;111(3):342-52. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25.

PMID:
24461907
[PubMed - in process]
4.

Alterations of oxidative phosphorylation complexes in astrocytomas.

Feichtinger RG, Weis S, Mayr JA, Zimmermann F, Geilberger R, Sperl W, Kofler B.

Glia. 2014 Apr;62(4):514-25. doi: 10.1002/glia.22621. Epub 2014 Jan 20.

PMID:
24446254
[PubMed - in process]
5.

Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.

Stojanovic V, Mayr JA, Sperl W, Barišić N, Doronjski A, Milak G.

Croat Med J. 2013 Dec;54(6):579-84.

PMID:
24382854
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
23993194
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO.

Orphanet J Rare Dis. 2013 Jan 10;8:6. doi: 10.1186/1750-1172-8-6.

PMID:
23305374
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells.

Mueller EE, Brunner SM, Mayr JA, Stanger O, Sperl W, Kofler B.

PLoS One. 2012;7(12):e52367. doi: 10.1371/journal.pone.0052367. Epub 2012 Dec 26.

PMID:
23300652
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA.

J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8. Review.

PMID:
23296368
[PubMed - indexed for MEDLINE]
10.

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Barić I, Fumić K, Petković Ramadža D, Sperl W, Zimmermann FA, Muačević-Katanec D, Mitrović Z, Pažanin L, Cvitanović Šojat L, Kekez T, Reiner Z, Mayr JA.

Eur J Hum Genet. 2013 Aug;21(8):871-5. doi: 10.1038/ejhg.2012.272. Epub 2012 Dec 12.

PMID:
23232693
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel LP, Smeitink JA.

J Inherit Metab Dis. 2012 Sep;35(5):737-47. doi: 10.1007/s10545-012-9492-z. Epub 2012 May 30. Review.

PMID:
22644603
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.

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.

J Inherit Metab Dis. 2013 Jan;36(1):55-62. doi: 10.1007/s10545-012-9489-7. Epub 2012 May 5.

PMID:
22562699
[PubMed - indexed for MEDLINE]
13.

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

Sterl E, Paul K, Paschke E, Zschocke J, Brunner-Krainz M, Windisch E, Konstantopoulou V, Möslinger D, Karall D, Scholl-Bürgi S, Sperl W, Lagler F, Plecko B.

J Inherit Metab Dis. 2013 Jan;36(1):7-13. doi: 10.1007/s10545-012-9485-y. Epub 2012 Apr 25.

PMID:
22526846
[PubMed - indexed for MEDLINE]
14.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

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.

J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846.

PMID:
22499348
[PubMed - indexed for MEDLINE]
15.

A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.

Mayr JA, Koch J, Fauth C, Zimmermann FA, Rauscher C, Zschocke J, Sperl W.

Neuropediatrics. 2012 Jun;43(3):130-4. doi: 10.1055/s-0032-1309308. Epub 2012 Apr 2.

PMID:
22473288
[PubMed - indexed for MEDLINE]
16.

Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study.

Mueller EE, Schaier E, Brunner SM, Eder W, Mayr JA, Egger SF, Nischler C, Oberkofler H, Reitsamer HA, Patsch W, Sperl W, Kofler B.

PLoS One. 2012;7(2):e30874. doi: 10.1371/journal.pone.0030874. Epub 2012 Feb 13.

PMID:
22348027
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H.

Am J Hum Genet. 2012 Feb 10;90(2):314-20. doi: 10.1016/j.ajhg.2011.12.005. Epub 2012 Jan 26.

PMID:
22284826
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J.

J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10.

PMID:
22231385
[PubMed - indexed for MEDLINE]
19.

Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.

Mueller EE, Mayr JA, Zimmermann FA, Feichtinger RG, Stanger O, Sperl W, Kofler B.

Biochem Biophys Res Commun. 2012 Jan 20;417(3):1052-7. doi: 10.1016/j.bbrc.2011.12.093. Epub 2011 Dec 26.

PMID:
22222373
[PubMed - indexed for MEDLINE]
20.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H.

J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26.

PMID:
22200994
[PubMed - indexed for MEDLINE]

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