Wolfgang Sperl

Wolfgang Sperl

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Wolfgang Sperl

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Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.

Neuropediatrics 2019 04 20;50(2):71-79. Epub 2018 Dec 20.

Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, Vogtareuth, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1676544
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http://dx.doi.org/10.1055/s-0038-1676544DOI Listing
April 2019

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Congenit Heart Dis 2018 Sep 21;13(5):671-677. Epub 2018 Aug 21.

Department of Child and Adolescent Health, Pediatrics I/III, Medical University of Innsbruck, Innsbruck, Austria.

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http://doi.wiley.com/10.1111/chd.12634
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http://dx.doi.org/10.1111/chd.12634DOI Listing
September 2018

Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma.

Cells 2018 May 9;7(5). Epub 2018 May 9.

Research Program for Receptor Biochemistry and Tumor Metabolism, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria.

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http://dx.doi.org/10.3390/cells7050040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981264PMC
May 2018

Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.

Oxid Med Cell Longev 2017 28;2017:1320241. Epub 2017 Jun 28.

Laura-Bassi Centre of Expertise, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.

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http://dx.doi.org/10.1155/2017/1320241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506471PMC
April 2018

Melanoma tumors exhibit a variable but distinct metabolic signature.

Exp Dermatol 2018 02 10;27(2):204-207. Epub 2018 Jan 10.

Laboratory for Pathology Weger, Emberger, Salzburg, Austria.

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http://dx.doi.org/10.1111/exd.13465DOI Listing
February 2018

Mitochondrial translation requires folate-dependent tRNA methylation.

Nature 2018 02 24;554(7690):128-132. Epub 2018 Jan 24.

Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey 08544, USA.

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http://www.nature.com/doifinder/10.1038/nature25460
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http://dx.doi.org/10.1038/nature25460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020024PMC
February 2018

A ketogenic diet supplemented with medium-chain triglycerides enhances the anti-tumor and anti-angiogenic efficacy of chemotherapy on neuroblastoma xenografts in a CD1-nu mouse model.

Oncotarget 2017 Sep 8;8(39):64728-64744. Epub 2017 Aug 8.

Department of Pediatrics, Laura Bassi Centre of Expertise-THERAPEP, Research Program for Receptor Biochemistry and Tumor Metabolism, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.18632/oncotarget.20041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630289PMC
September 2017

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

Neuropediatrics 2017 08 9;48(4):309-314. Epub 2017 Jun 9.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

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http://dx.doi.org/10.1055/s-0037-1603776DOI Listing
August 2017

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.

Seizure 2017 Aug 15;50:118-120. Epub 2017 Jun 15.

Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.seizure.2017.06.017DOI Listing
August 2017

The ketogenic diet is not feasible as a therapy in a CD-1 nu/nu mouse model of renal cell carcinoma with features of Stauffer's syndrome.

Oncotarget 2017 Aug 17;8(34):57201-57215. Epub 2017 Jul 17.

Laura Bassi Centre of Expertise-THERAPEP, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.18632/oncotarget.19306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593636PMC
August 2017

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

PLoS One 2015 31;10(8):e0135622. Epub 2015 Aug 31.

Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria; Obesity Research Unit, Paracelsus Medical University and Salzburger Landeskliniken, Salzburg, Austria.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135622PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556186PMC
May 2016

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

J Pediatr 2016 05;172:233-235.e2

European Paediatric Association, Berlin, Germany; Children's Hospital, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2015.12.078DOI Listing
May 2016

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

J Med Genet 2016 Apr 18;53(4):270-8. Epub 2016 Jan 18.

Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103500DOI Listing
April 2016

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

Neuro Oncol 2016 Feb 23;18(2):184-94. Epub 2015 Jun 23.

Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria (R.G.F., F.A.Z., B.K.); Laboratory of Neuropathology, Department of Pathology and Neuropathology, State Neuropsychiatric Hospital Wagner-Jauregg, Medical School, Johannes Kepler University, Linz, Austria (S.W.); Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria (J.A.M., W.S.); Department of Ophthalmology, Paracelsus Medical University, Salzburg, Austria (B.B.).

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http://dx.doi.org/10.1093/neuonc/nov105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724172PMC
February 2016

Deficiency of respiratory chain complex I in Hashimoto thyroiditis.

Mitochondrion 2016 Jan 7;26:1-6. Epub 2015 Nov 7.

Department of Pediatrics, Paracelsus Medical University, Müllner Hauptstraße 48, A-5020 Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.11.002DOI Listing
January 2016

Mitochondria: The ketogenic diet--A metabolism-based therapy.

Int J Biochem Cell Biol 2015 Jun 7;63:55-9. Epub 2015 Feb 7.

Laura Bassi Centre of Expertise-THERAPEP, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.biocel.2015.01.022DOI Listing
June 2015

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

J Inherit Metab Dis 2015 May 20;38(3):391-403. Epub 2014 Dec 20.

Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria,

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http://dx.doi.org/10.1007/s10545-014-9787-3DOI Listing
May 2015

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

J Inherit Metab Dis 2015 May 17;38(3):467-75. Epub 2015 Feb 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, D-40225, Düsseldorf, Germany.

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http://link.springer.com/content/pdf/10.1007/s10545-014-9796
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http://link.springer.com/10.1007/s10545-014-9796-2
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http://dx.doi.org/10.1007/s10545-014-9796-2DOI Listing
May 2015

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.

Mitochondrion 2015 Mar 10;21:12-8. Epub 2015 Jan 10.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.mito.2015.01.001DOI Listing
March 2015

Energy metabolism in neuroblastoma and Wilms tumor.

Transl Pediatr 2015 Jan;4(1):20-32

1 Laura Bassi Centre of Expertise-THERAPEP, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, 2 Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.3978/j.issn.2224-4336.2015.01.04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729069PMC
January 2015

Mitochondrial dysfunction: a neglected component of skin diseases.

Exp Dermatol 2014 Sep;23(9):607-14

Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1111/exd.12484DOI Listing
September 2014

Lipoic acid biosynthesis defects.

J Inherit Metab Dis 2014 Jul 29;37(4):553-63. Epub 2014 Apr 29.

Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria,

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http://dx.doi.org/10.1007/s10545-014-9705-8DOI Listing
July 2014

Alterations of oxidative phosphorylation complexes in astrocytomas.

Glia 2014 Apr 20;62(4):514-25. Epub 2014 Jan 20.

Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1002/glia.22621DOI Listing
April 2014

Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.

Croat Med J 2013 Dec;54(6):579-84

Nenad Barisic, University of Novi Sad, Faculty of Medicine, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljkova 10, 21000 Novi Sad, Serbia,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893987PMC
http://dx.doi.org/10.3325/cmj.2013.54.579DOI Listing
December 2013

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

J Inherit Metab Dis 2013 Nov 8;36(6):923-8. Epub 2013 Jan 8.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-012-9580-0DOI Listing
November 2013

Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells.

PLoS One 2012 26;7(12):e52367. Epub 2012 Dec 26.

Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052367PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530588PMC
July 2013

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

J Inherit Metab Dis 2012 Sep 10;35(5):749-59. Epub 2012 Jan 10.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9440
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http://link.springer.com/10.1007/s10545-011-9440-3
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http://dx.doi.org/10.1007/s10545-011-9440-3DOI Listing
September 2012

Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.

Biochem Biophys Res Commun 2012 Jan 26;417(3):1052-7. Epub 2011 Dec 26.

Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.bbrc.2011.12.093DOI Listing
January 2012

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.

Haematologica 2011 Nov 12;96(11):1715-9. Epub 2011 Jul 12.

Faculté de Médecine, INSERM U954 Nutrition, Genetics, and Environmental Risk Exposure, Vandoeuvre Les Nancy, France.

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http://dx.doi.org/10.3324/haematol.2011.043984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208692PMC
November 2011

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

Neuromuscul Disord 2011 Nov 16;21(11):803-8. Epub 2011 Jul 16.

Department of Paediatrics, Paracelsus Medical University Salzburg, Müllner Hauptstrasse 48, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.nmd.2011.06.005DOI Listing
November 2011

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Mol Genet Metab 2011 Aug 5;103(4):358-61. Epub 2011 May 5.

Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.010DOI Listing
August 2011

Effects of galanin message-associated peptide and neuropeptide Y against various non-albicans Candida strains.

Int J Antimicrob Agents 2011 Jul 8;38(1):76-80. Epub 2011 May 8.

Department of Pediatrics, Laura Bassi Centre of Expertise-THERAPEP, Paracelsus Medical University, A-5020 Salzburg, Austria.

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http://dx.doi.org/10.1016/j.ijantimicag.2011.02.019DOI Listing
July 2011

Functional outcome of children with mitochondrial diseases.

Pediatr Neurol 2011 May;44(5):340-6

Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994110001
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http://dx.doi.org/10.1016/j.pediatrneurol.2010.12.004DOI Listing
May 2011

Loss of mitochondria in ganglioneuromas.

Front Biosci (Elite Ed) 2011 Jan 1;3:179-86. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e231DOI Listing
January 2011

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms' tumor.

Front Biosci (Elite Ed) 2011 Jan 1;3:187-93. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e232DOI Listing
January 2011

Alterations of respiratory chain complexes in sporadic pheochromocytoma.

Front Biosci (Elite Ed) 2011 Jan 1;3:194-200. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e233DOI Listing
January 2011

Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors.

Front Biosci (Elite Ed) 2011 Jan 1;3:315-25. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e247DOI Listing
January 2011

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Hum Mol Genet 2010 Sep 21;19(17):3430-9. Epub 2010 Jun 21.

Department of Pediatrics, Paracelsus Medical University, Salzburg A5020, Austria.

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http://dx.doi.org/10.1093/hmg/ddq254DOI Listing
September 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Arch Dis Child 2010 Apr;95(4):296-301

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1136/adc.2009.168096DOI Listing
April 2010

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma.

BMC Cancer 2010 Apr 19;10:149. Epub 2010 Apr 19.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1186/1471-2407-10-149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861660PMC
April 2010

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

Mol Genet Metab 2009 Nov 25;98(3):300-4. Epub 2009 Jun 25.

Department of Pediatrics, Medical University Graz, Graz, Austria.

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http://dx.doi.org/10.1016/j.ymgme.2009.06.012DOI Listing
November 2009

Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.

Clin Cancer Res 2008 Apr;14(8):2270-5

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1158/1078-0432.CCR-07-4131DOI Listing
April 2008

Galanin message-associated peptide suppresses growth and the budded-to-hyphal-form transition of Candida albicans.

Antimicrob Agents Chemother 2007 Nov 13;51(11):4167-70. Epub 2007 Aug 13.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Müllner Hauptstr. 48, A-5020 Salzburg, Austria.

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http://aac.asm.org/cgi/doi/10.1128/AAC.00166-07
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http://dx.doi.org/10.1128/AAC.00166-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2151459PMC
November 2007

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

J Pediatr 2007 Feb;150(2):192-7, 197.e1

Clinical Department of Pediatric Cardiology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.jpeds.2006.11.043DOI Listing
February 2007

Tick-borne encephalitis in a 17-day-old newborn resulting in severe neurologic impairment.

Pediatr Infect Dis J 2007 Feb;26(2):185-6

Department of Pediatrics, Paracelsus Private Medical University, Salzburg General Hospital, Salzburg, Austria.

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http://dx.doi.org/10.1097/01.inf.0000253056.34894.5fDOI Listing
February 2007

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Neuromuscul Disord 2006 Dec 20;16(12):874-7. Epub 2006 Oct 20.

University Children's Hospital, Paracelsus Private Medical University, Müllner Hauptstr 48, A-5020 Salzburg, Austria.

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http://dx.doi.org/10.1016/j.nmd.2006.08.010DOI Listing
December 2006

Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry.

Clin Chim Acta 2006 Nov 22;373(1-2):27-31. Epub 2006 Jun 22.

Department of General Paediatrics, University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.

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http://linkinghub.elsevier.com/retrieve/pii/S000989810600239
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http://dx.doi.org/10.1016/j.cca.2006.04.013DOI Listing
November 2006

Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.

Electrophoresis 2006 Oct;27(19):3864-8

Department of Paediatrics, Paracelsus Private Medical University Salzburg, Salzburg, Austria.

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http://dx.doi.org/10.1002/elps.200600086DOI Listing
October 2006

Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?

Scand J Gastroenterol 2005 Oct;40(10):1246-50

Department of Medical Microbiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1080/00365520510023459DOI Listing
October 2005

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

Mitochondrion 2004 Sep 18;4(5-6):427-39. Epub 2004 Oct 18.

Muskellabor der Neurologischen Klinik und Poliklinik, Martin-Luther Universität Halle-Wittenberg, Julius-Kühn-Strasse 7, D-06097 Halle/Saale, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S156772490400135
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http://dx.doi.org/10.1016/j.mito.2004.07.007DOI Listing
September 2004