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Elisa Fassone Selected Research

Disulfides

5/2009The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

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Elisa Fassone Research Topics

Disease

4Mitochondrial Diseases (Mitochondrial Disease)
01/2016 - 05/2010
4Ophthalmoplegia (External Ophthalmoplegia)
10/2013 - 05/2010
4Cytochrome-c Oxidase Deficiency
03/2012 - 06/2009
3Leigh Disease (Leigh's Disease)
01/2016 - 06/2009
3Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
02/2013 - 05/2010
2Metabolic Diseases (Metabolic Disease)
01/2016 - 01/2016
2Mitochondrial encephalopathy
07/2015 - 12/2010
2Mitochondrial Myopathies (Mitochondrial Myopathy)
02/2013 - 05/2010
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2016
1Vomiting
01/2016
1VLCAD deficiency
01/2016
1Fever (Fevers)
01/2016
1Exocrine Pancreatic Insufficiency
01/2016
1Ataxia (Dyssynergia)
10/2013
1Basal Ganglia Diseases (Basal Ganglia Disease)
10/2013
1Confusion (Bewilderment)
10/2013
1Thiamine Deficiency
10/2013
1Wernicke Encephalopathy (Wernicke's Encephalopathy)
10/2013
1Muscular Diseases (Myopathy)
02/2013
1Kearns-Sayre Syndrome
09/2011
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/2009
1Cardiomyopathies (Cardiomyopathy)
06/2009
1And Developmental Delay Hearing Loss With Congenital Cataract Mitochondrial Progressive Myopathy
05/2009

Drug/Important Bio-Agent (IBA)

8Mitochondrial DNA (mtDNA)IBA
02/2013 - 06/2009
3EnzymesIBA
01/2016 - 07/2010
2Transfer RNA (tRNA)IBA
01/2016 - 05/2010
2Oxidoreductases (Dehydrogenase)IBA
07/2015 - 12/2010
2Molecular Chaperones (Chaperone, Molecular)IBA
07/2015 - 12/2010
2Flavin-Adenine Dinucleotide (FAD)IBA
07/2015 - 12/2010
2Electron Transport Complex IV (Cytochrome c Oxidase)IBA
09/2011 - 06/2009
1TransferasesIBA
01/2016
1decanoic acid (capric acid)IBA
01/2016
1ElectrolytesIBA
01/2016
1Fatty Acids (Saturated Fatty Acids)IBA
01/2016
1Glucose (Dextrose)FDA LinkGeneric
01/2016
1Biotin (Vitamin H)FDA Link
10/2013
1Thiamine (Aneurin)FDA Link
10/2013
1Asn Transfer RNAIBA
03/2012
1Ribonucleotide Reductases (Ribonucleotide Reductase)IBA
09/2011
1Leu Transfer RNAIBA
05/2010
1Lys Transfer RNAIBA
06/2009
1DisulfidesIBA
05/2009
1Proteins (Proteins, Gene)FDA Link
05/2009

Therapy/Procedure

1Aftercare (After-Treatment)
01/2016
1Ketogenic Diet
01/2016
1Bone Marrow Transplantation (Transplantation, Bone Marrow)
01/2016