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Items: 1 to 20 of 201

1.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.

Eur J Med Genet. 2016 Jul 1;59(8):386-391. doi: 10.1016/j.ejmg.2016.06.007. [Epub ahead of print]

PMID:
27377014
2.

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E.

Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun.

3.

Overview of Habilitation and Rehabilitation for Children and Adolescents in Europe.

Kerbl R, Sperl W, Strassburg HM, Pettoello-Mantovani M, Ehrich J.

J Pediatr. 2016 May;172:233-235.e2. doi: 10.1016/j.jpeds.2015.12.078. No abstract available.

PMID:
27112093
4.

Combination of metronomic cyclophosphamide and dietary intervention inhibits neuroblastoma growth in a CD1-nu mouse model.

Morscher RJ, Aminzadeh-Gohari S, Hauser-Kronberger C, Feichtinger RG, Sperl W, Kofler B.

Oncotarget. 2016 Mar 29;7(13):17060-73. doi: 10.18632/oncotarget.7929.

5.

Energy metabolism in neuroblastoma and Wilms tumor.

Aminzadeh S, Vidali S, Sperl W, Kofler B, Feichtinger RG.

Transl Pediatr. 2015 Jan;4(1):20-32. doi: 10.3978/j.issn.2224-4336.2015.01.04. Review.

6.

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.

PMID:
26783368
7.

Deficiency of respiratory chain complex I in Hashimoto thyroiditis.

Zimmermann FA, Neureiter D, Feichtinger RG, Trost A, Sperl W, Kofler B, Mayr JA.

Mitochondrion. 2016 Jan;26:1-6. doi: 10.1016/j.mito.2015.11.002. Epub 2015 Nov 7.

PMID:
26554844
8.

Mitochondrial Haplogroup T Is Associated with Obesity in Austrian Juveniles and Adults.

Ebner S, Mangge H, Langhof H, Halle M, Siegrist M, Aigner E, Paulmichl K, Paulweber B, Datz C, Sperl W, Kofler B, Weghuber D.

PLoS One. 2015 Aug 31;10(8):e0135622. doi: 10.1371/journal.pone.0135622. eCollection 2015.

9.

Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors.

Feichtinger RG, Weis S, Mayr JA, Zimmermann FA, Bogner B, Sperl W, Kofler B.

Neuro Oncol. 2016 Feb;18(2):184-94. doi: 10.1093/neuonc/nov105. Epub 2015 Jun 23.

PMID:
26106125
10.

Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model.

Morscher RJ, Aminzadeh-Gohari S, Feichtinger RG, Mayr JA, Lang R, Neureiter D, Sperl W, Kofler B.

PLoS One. 2015 Jun 8;10(6):e0129802. doi: 10.1371/journal.pone.0129802. eCollection 2015.

11.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.

J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30.

PMID:
26025547
12.

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.

13.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.

Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015.

14.

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W, Volkmar B, Scholl-Bürgi S.

Orphanet J Rare Dis. 2015 Feb 22;10:21. doi: 10.1186/s13023-015-0236-7.

15.

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.

Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM.

Orphanet J Rare Dis. 2015 Apr 2;10:40. doi: 10.1186/s13023-015-0254-5.

16.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R.

J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14.

17.

Erratum to: 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 E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. No abstract available.

PMID:
25778942
18.

Spectrum of combined respiratory chain defects.

Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W.

J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. Review.

19.

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 May;38(3):467-75. doi: 10.1007/s10545-014-9796-2. Epub 2015 Feb 17. Review.

PMID:
25687154
20.

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 Jun;63:55-9. doi: 10.1016/j.biocel.2015.01.022. Epub 2015 Feb 7. Review.

PMID:
25666556
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