AT Salzburg Sperl W

AT Salzburg Sperl W

O2k-Network Lab	Universitätsklinik für Kinder- und Jugendheilkunde (Kinderspital Salzburg) Paracelsus Medizinische Privatuniversität Landeskliniken Salzburg
Address	Müllner Hauptstraße 48, 5020
City	Salzburg
State/Prov
Country	Austria
Weblink
Contact	Sperl Wolfgang
Team	Eberhard Nicole, Feichtinger Rene, Kofler Barbara, Mayr JA, Thapa Maheshwor, Zimmermann Franz
Team previous
Status	O2k 2003-
Oroboros Events	IOC137, IOC21, IOC16
Topics

O2k-Publications

	Published	Reference
Alston 2018 Am J Hum Genet	2018	Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW (2018) Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am J Hum Genet 103:592-601.
Cizkova 2008 Nat Genet	2008	Cızkova A, Stranecky V, Mayr JA, Tesarova M, Havlıckova V, Paul J, Ivanek R, Kuss AW, Hansıkova H, Kaplanova W, Vrbacky M, Hartmannova H, Noskova L, Honzık T, Drahota Z, Magner M, Hejzlarova K, Sperl W, Zeman J, Houstek J, Kmoch S (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40:1288-90.
Mayr 2004 Pediatr Res	2004	Mayr JA, Paul J, Pecina P, Kurnik P, Forster H, Fotschl U, Sperl W, Houstek J (2004) Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. Pediatr Res 55:988-94.
Sperl 1997 Mol Cell Biochem	1997	Sperl W, Skladal D, Gnaiger E, Wyss M, Mayr U, Hager J, Gellerich FN (1997) High resolution respirometry of premeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders. Mol Cell Biochem 174:71-8.
Gellerich 1995 HRR	1995	Gellerich FN, Skladal D, Schranzhofer R, Lanznaster N, Kunz WS, Wisniewski E, Kuznetsov A, Krishmer M, Gnaiger E, Margreiter R, Sperl W (1995) Hochauflösende Respirometrie und multiple Substrat/Inhibitor-Titration zum funktionellen Nachweis mitochondrialer Defekte in permeabilisierten Muskelfasern. In: Molekulare Grundlage hereditärer Myopathien. (Gross M, Gresser U, Hrsg), Zuckschwerdt Verlag, München, Bern, Wien, New York:52-66.
Skladal 1994 BTK-268	1994	Skladal D, Sperl W, Schranzhofer R, Krismer M, Gnaiger E, Margreiter R, Gellerich FN (1994) Preservation of mitochondrial functions in human skeletal muscle during storage in high energy preservation solution (HEPS). In: What is Controlling Life? (Gnaiger E, Gellerich FN, Wyss M, eds) Modern Trends in BioThermoKinetics 3. Innsbruck Univ Press:268-71.
Sperl 1994 J Inher Metab Dis	1994	Sperl W, Skladal D, Lanznaster N, Schranzhofer R, Zaunschirm G, Gnaiger E, Gellerich FN (1994) Polarographic studies of saponin-skinned muscle fibers in patients with mitochondrial myopathies. J Inher Metab Dis 17:307-10.
Gellerich 1994 BTK-263	1994	Gellerich FN, Steinlechner R, Wyss M, Eberl T, Müller LC, Skladal D, Sperl W, Dapunt O, Margreiter R, Gnaiger E (1994) Mitochondrial function in the atrial appendage of the human heart. Characterization by high-resolution respirometry. In: What is Controlling Life? (Gnaiger E, Gellerich FN, Wyss M, eds) Modern Trends in BioThermo-Kinetics 3. Innsbruck Univ Press:263-7.

O2k-Abstracts

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