Sperl W

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Name Sperl Wolfgang, Univ.Prof.Prim.Dr.
Institution Universitätsklinik für Kinder- und Jugendheilkunde (Kinderspital Salzburg)

Paracelsus Medizinische Privatuniversität

Landeskliniken Salzburg

Address Müllner Hauptstraße 48, 5020
City Salzburg
State/Province
Country Austria
Email w.sperl@salk.at
Weblink
O2k-Network Lab AT Salzburg Sperl W


Labels:



Publications

 PublishedReference
Alston 2018 Am J Hum Genet2018Alston 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.
Feichtinger 2017 Am J Hum Genet2017Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H (2017) Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am J Hum Genet 101:525-38.
Dreilaenderkongress Mitochondriale Medizin2015-07-09Salzburg AT, 2015 Jul 09-10. Dreilaenderkongress Mitochondriale Medizin
Mueller 2012 PLoS One2012Mueller EE, Brunner SM, Mayr JA, Stanger O, Sperl W, Kofler B (2012) Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells. PLoS One 7:e52367.
Cizkova 2008 Nat Genet2008Cızkova 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 Res2004Mayr 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 Biochem1997Sperl 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 HRR1995Gellerich 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-2681994
BTK1994
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 Dis1994Sperl 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-2631994
BTK1994
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.

Abstracts

 PublishedReference
Iyer 2017b MiPschool Obergurgl2017
Shilpa Iyer
Patient-specific stem cell models for mitochondrial diseases.
Matakovic 2015 Abstract MiP20152015Cofactor deficiency in mitochondrial diseases.