Search Results - "Mayr, J.A"

MKS1 mutations cause joubert syndrome with agenesis of the corpus callosum by Bader, Ingrid, Decker, E, Mayr, J.A, Lunzer, V, Koch, J, Boltshauser, E, Sperl, W, Pietsch, P, Ertl-Wagner, B, Bolz, H, Bergmann, C, Rittinger, O

“…Abstract Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia,…”
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OP6 – 2631: Decreased free-thiamine in cerebro spinal fluid and fibroblasts is a sensitive marker of thiamine transporter 2 deficiency in Leigh syndrome patients by Escobar, J.D. Ortigoza, Molero-Luis, M, Arias, A, Darin, N, Casado, M, Serrano, M, Tondo, M, Mayr, J.A, Ribes, A, Artuch, R, Pérez-Dueñas, B

“…Objectives Thiamine transporter-2 (hTHTR2) deficiency due to SLC19A3 mutations is a potentially reversible cause of Leigh syndrome for which no biochemical…”
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Cofactor deficiency in mitochondrial diseases by Mataković, Lavinija, Feichtinger, R., Sperl, W., Holzerová, E., Prokisch, H., Haack, T., Mayr, J.A.

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532 Variable but distinct metabolic signature in malignant melanoma by Lang, R., Feichtinger, R.G., Geilberger, R., Rathje, F., Mayr, J.A., Sperl, W., Bauer, J.W., Hauser-Kronberger, C., Emberger, M., Kofler, B.

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Sengers syndrome is caused by a deficiency of the acylglycerol kinase by Sperl, W., Mayr, J.A., Haack, T.B., Zimmermann, F.A., Meitinger, T., Prokisch, H.

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Cofactor defects as a cause of mitochondrial encephalomyopathies by Mayr, J.A., Freisinger, P., Haack, T., Koch, J., Zimmermann, F., Prokisch, H., Sperl, W.

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Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients by Freisinger, P., Mayr, J.A., Scheffner, T., Makowski, C., Koch, J., Ahting, U., Zimmermann, F.A., Schlachter, K., Prokisch, H., Sperl, W.

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P04.4 Atypical myopathic presentation of Pearson Syndrome in early infancy: tissuespecific correlation of mutated mtDNA load and clinical presentation by Reichhardt, M., Bernert, G., Sperl, W., Mayr, J.A., Holub, M.

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Deficiency of mitochondrial ATP synthase of nuclear genetic origin by Sperl, W., Ješina, P., Zeman, J., Mayr, J.A., DeMeirleir, L., VanCoster, R., Pícková, A., Hansíková, H., Houšt’ková, H., Krejčík, Z., Koch, J., Smet, J., Muss, W., Holme, E., Houštěk, J.

“…We present clinical and laboratory data from 14 cases with an isolated deficiency of the mitochondrial ATP synthase (7–30% of control) caused by nuclear…”
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146 Difficulty in the diagnosis of X-linked PDHC deficiency due to a large deletion affecting the PDHA1 gene by Sperl, W., Koch, J., Rauscher, C., Zschocke, J., Fauth, C., Mayr, J.A.

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147 Compound heterozygosity for mutations in TMEM70 by Sperl, W., Bodamer, O., Möslinger, D., Koch, J., Tesarova, M., Zeman, J., Houstek, J., Kmoch, S., Mayr, J.A.

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Characterization and function in vivo of two novel phospholipases B/lysophospholipases from Saccharomyces cerevisiae by Merkel, O, Fido, M, Mayr, J.A, Pruger, H, Raab, F, Zandonella, G, Kohlwein, S.D, Paltauf, F

“…The yeast genome contains two genes, designated as PLB2 and PLB3, that are 67% and 62% identical, respectively, to PLB1, which codes for a phospholipase…”
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Biochemical consequences of a pathogenic A3243G mtDNA mutation by Mayr, J.A., Zimmermann, F., Meierhofer, D., Schmeller, N., Sperl, W., Kofler, B.

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Mitochondriopathien: Ein Update by Sperl, W., Prokisch, H., Karall, D., Mayr, J.A., Freisinger, P.

“…Zusammenfassung Mitochondriopathien zählen zu den häufigsten neurometabolischen Erkrankungen im Kindesalter. Über Fortschritte in der Genetik, u. a. durch neue…”
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