Mayr JA - Search Results

1

Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.

Oswald SL, Steinbrücker K, Achleitner MT, Göschl E, Bittner RE, Schmidt WM, Tiefenthaler E, Hammerl E, Eisl A, Mayr D, Mayr JA, Wortmann SB. Oswald SL, et al. Among authors: mayr ja, mayr d. Neuropediatrics. 2023 Oct;54(5):351-355. doi: 10.1055/a-2008-4230. Epub 2023 Jan 5. Neuropediatrics. 2023. PMID: 36603837

2

Severe depletion of mitochondrial DNA in spinal muscular atrophy.

Berger A, Mayr JA, Meierhofer D, Fötschl U, Bittner R, Budka H, Grethen C, Huemer M, Kofler B, Sperl W. Berger A, et al. Among authors: mayr ja. Acta Neuropathol. 2003 Mar;105(3):245-51. doi: 10.1007/s00401-002-0638-1. Epub 2002 Nov 14. Acta Neuropathol. 2003. PMID: 12557011

3

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

Acham-Roschitz B, Plecko B, Lindbichler F, Bittner R, Mache CJ, Sperl W, Mayr JA. Acham-Roschitz B, et al. Among authors: mayr ja. Mol Genet Metab. 2009 Nov;98(3):300-4. doi: 10.1016/j.ymgme.2009.06.012. Epub 2009 Jun 25. Mol Genet Metab. 2009. PMID: 19616983

4

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. Mayr JA, et al. Neuropediatrics. 2012 Jun;43(3):130-4. doi: 10.1055/s-0032-1309308. Epub 2012 Apr 2. Neuropediatrics. 2012. PMID: 22473288

5

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. Haack TB, et al. Among authors: mayr ja. Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25. Mol Genet Metab. 2014. PMID: 24461907

6

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Thiels C, Fleger M, Huemer M, Rodenburg RJ, Vaz FM, Houtkooper RH, Haack TB, Prokisch H, Feichtinger RG, Lücke T, Mayr JA, Wortmann SB. Thiels C, et al. Among authors: mayr ja. JIMD Rep. 2016;29:89-93. doi: 10.1007/8904_2015_525. Epub 2016 Jan 3. JIMD Rep. 2016. PMID: 26724946 Free PMC article.

7

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

Ucar SK, Mayr JA, Feichtinger RG, Canda E, Çoker M, Wortmann SB. Ucar SK, et al. Among authors: mayr ja. JIMD Rep. 2017;35:39-45. doi: 10.1007/8904_2016_23. Epub 2016 Dec 8. JIMD Rep. 2017. PMID: 27928778 Free PMC article.

8

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Distelmaier F, et al. Among authors: mayr ja. Brain. 2017 Feb;140(2):e11. doi: 10.1093/brain/aww303. Epub 2016 Dec 19. Brain. 2017. PMID: 27993888 No abstract available.

9

CAD mutations and uridine-responsive epileptic encephalopathy.

Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: mayr ja. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989

10

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. Wortmann SB, et al. Among authors: mayr ja. Neuropediatrics. 2017 Aug;48(4):309-314. doi: 10.1055/s-0037-1603776. Epub 2017 Jun 9. Neuropediatrics. 2017. PMID: 28599323 Review. No abstract available.

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