Wolfgang Sperl Selected Research

Muscle Hypotonia (Hypotonia)

12/2017	Molecular and clinical spectra of FBXL4 deficiency.
1/2016	Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
9/2012	Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
12/2011	Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
8/2011	Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
4/2010	Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
3/2007	Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

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Wolfgang Sperl Research Topics

Disease

19	Neoplasms (Cancer) 01/2018 - 02/2002
14	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 06/2004
12	Lactic Acidosis 09/2018 - 10/2005
8	Neuroblastoma 09/2017 - 02/2002
7	Muscle Hypotonia (Hypotonia) 12/2017 - 03/2007
4	Carcinogenesis 01/2018 - 04/2008
4	Cardiomyopathies (Cardiomyopathy) 01/2018 - 11/2011
4	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2017 - 03/2007
4	Atrophy 12/2017 - 03/2003
3	Seizures (Absence Seizure) 12/2017 - 09/2012
3	Brain Diseases (Brain Disorder) 01/2017 - 12/2014
3	Epilepsy (Aura) 01/2016 - 12/2011
3	Pyruvate Dehydrogenase Complex Deficiency Disease 06/2015 - 06/2012
3	Muscular Diseases (Myopathy) 08/2013 - 11/2011
3	Pheochromocytoma 01/2011 - 06/2005
3	Ganglioneuroma 01/2011 - 02/2002
2	Macular Degeneration (Age-Related Maculopathy) 01/2020 - 01/2012
2	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 09/2018 - 09/2013
2	Melanoma (Melanoma, Malignant) 01/2018 - 01/2011
2	Microcephaly 12/2017 - 01/2016
2	Infections 10/2017 - 01/2017
2	Brain Neoplasms (Brain Tumor) 08/2017 - 02/2002
2	Renal Cell Carcinoma (Grawitz Tumor) 08/2017 - 06/2004
2	Acidosis 09/2015 - 10/2005
2	Starvation 06/2015 - 01/2015
2	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2015 - 01/2004
2	Obesity 01/2015 - 06/2002
2	Glioblastoma (Glioblastoma Multiforme) 04/2014 - 06/2003
2	Propionic Acidemia 01/2013 - 02/2007
2	Coronary Artery Disease (Coronary Atherosclerosis) 01/2011 - 04/2009
2	Paraganglioma (Paragangliomas) 01/2011 - 04/2010
2	Carcinoma (Carcinomatosis) 07/2009 - 06/2004
2	Glioma (Gliomas) 06/2005 - 06/2003
1	Optic Atrophy 01/2020
1	Renal Insufficiency (Renal Failure) 01/2020
1	Stroke (Strokes) 09/2018
1	Deafness (Deaf Mutism) 09/2018
1	Learning Disabilities (Learning Disability) 09/2018
1	MELAS Syndrome (Syndrome, MELAS) 09/2018
1	Hearing Loss (Hearing Impairment) 01/2018
1	Sensorineural Hearing Loss 01/2018
1	Hypoglycemia (Reactive Hypoglycemia) 01/2018
1	Mitochondrial encephalopathy 12/2017
1	Hyperammonemia 12/2017
1	Sialorrhea 12/2017
1	Reinfection 12/2017
1	Inflammation (Inflammations) 10/2017
1	Vascular Tissue Neoplasms 09/2017
1	Hemorrhage 09/2017
1	Gastritis 01/2017
1	Neurofibroma 02/2016
1	Meningioma (Meningiomas) 02/2016
1	Neurilemmoma (Schwannoma) 02/2016
1	Nerve Sheath Neoplasms (Nerve Sheath Neoplasm) 02/2016
1	Hydrocephalus (Hydrocephaly) 01/2016
1	Ataxia (Dyssynergia) 01/2016

Drug/Important Bio-Agent (IBA)

18	Mitochondrial DNA (mtDNA)IBA 01/2020 - 03/2003
12	EnzymesIBA 01/2018 - 06/2004
6	Proteins (Proteins, Gene)FDA Link 10/2017 - 10/2003
5	Lactic Acid (Lactate)FDA LinkGeneric 01/2018 - 10/2005
5	Galanin Receptors (Galanin Receptor)IBA 01/2006 - 02/2002
5	GalaninIBA 01/2006 - 02/2002
4	Glucose (Dextrose)FDA LinkGeneric 06/2015 - 10/2005
3	Transfer RNA (tRNA)IBA 09/2018 - 08/2013
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2017 - 02/2012
3	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 01/2017 - 04/2015
3	Pyruvic Acid (Pyruvate)IBA 01/2017 - 06/2012
3	Adenosine Triphosphate (ATP)IBA 01/2015 - 04/2010
3	Succinate Dehydrogenase (Fumarate Reductase)IBA 01/2011 - 04/2008
3	Peptides (Polypeptides)IBA 01/2006 - 02/2002
3	Messenger RNA (mRNA)IBA 01/2006 - 06/2002
3	NeuropeptidesIBA 06/2005 - 02/2002
2	Retinaldehyde (Retinal)IBA 01/2020 - 01/2012
2	Leucine (L-Leucine)FDA Link 09/2018 - 11/2013
2	Cyclophosphamide (Cytoxan)FDA LinkGeneric 09/2017 - 03/2016
2	PorinsIBA 02/2016 - 04/2014
2	Creatine Kinase (Creatine Phosphokinase)IBA 09/2015 - 08/2013
2	Thioctic Acid (Lipoic Acid)IBA 01/2015 - 12/2011
2	oligomycin sensitivity-conferring protein (complex V)IBA 04/2014 - 06/2004
2	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2013 - 02/2007
2	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2012 - 01/2011
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2018
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2018
1	Carbonic Anhydrase IXIBA 01/2018
1	Ribosomal Proteins (Ribosomal Protein)IBA 01/2018
1	Lactate Dehydrogenase 5IBA 01/2018
1	ribosomal protein S2IBA 01/2018
1	Transaminases (Aminotransferases)IBA 12/2017
1	AMP-Activated Protein KinasesIBA 09/2017
1	Triglycerides (Triacylglycerol)IBA 09/2017
1	Interleukin-6 (Interleukin 6)IBA 08/2017
1	C-Reactive ProteinIBA 08/2017
1	UridineIBA 01/2017

Therapy/Procedure

7	Ketogenic Diet 09/2017 - 01/2015
7	Therapeutics 09/2017 - 10/2005
2	Drug Therapy (Chemotherapy) 09/2017 - 06/2015
2	Carbohydrate-Restricted Diet (Low Carbohydrate Diet) 08/2017 - 01/2015
1	Transplantation 01/2020
1	Hearing Aids (Hearing Aid) 12/2017
1	Cochlear Implants (Cochlear Implant) 12/2017