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Results: 1 to 20 of 183

1.

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

Danhauser K, Smeitink JA, Freisinger P, Sperl W, Sabir H, Hadzik B, Mayatepek E, Morava E, Distelmaier F.

J Inherit Metab Dis. 2015 Feb 17. [Epub ahead of print]

PMID:
25687154
[PubMed - as supplied by publisher]
2.

Mitochondria: The ketogenic diet-A metabolism-based therapy.

Vidali S, Aminzadeh S, Lambert B, Rutherford T, Sperl W, Kofler B, Feichtinger RG.

Int J Biochem Cell Biol. 2015 Feb 7. pii: S1357-2725(15)00032-1. doi: 10.1016/j.biocel.2015.01.022. [Epub ahead of print]

PMID:
25666556
[PubMed - as supplied by publisher]
3.

From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1.

Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P.

Mitochondrion. 2015 Jan 10;21C:12-18. doi: 10.1016/j.mito.2015.01.001. [Epub ahead of print]

PMID:
25583628
[PubMed - as supplied by publisher]
4.

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.

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.

Hum Mol Genet. 2014 Dec 30. pii: ddu743. [Epub ahead of print]

PMID:
25552653
[PubMed - as supplied by publisher]
5.

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA.

J Inherit Metab Dis. 2014 Dec 20. [Epub ahead of print]

PMID:
25526709
[PubMed - as supplied by publisher]
6.

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Mataković L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA.

Mol Genet Metab. 2014 Dec;113(4):301-6. doi: 10.1016/j.ymgme.2014.09.010. Epub 2014 Oct 5.

PMID:
25458521
[PubMed - in process]
7.

TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava-Kozicz E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2014 Oct 18. [Epub ahead of print]

PMID:
25326274
[PubMed - as supplied by publisher]
8.

Mitochondrial dysfunction: a neglected component of skin diseases.

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

Exp Dermatol. 2014 Sep;23(9):607-14. doi: 10.1111/exd.12484.

PMID:
24980550
[PubMed - in process]
Free Article
9.

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]
10.

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 - indexed for MEDLINE]
11.

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 - indexed for MEDLINE]
12.

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
13.

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
14.

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
15.

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
16.

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]
17.

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
18.

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
19.

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]
20.

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]
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