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Rosalba Carrozzo Selected Research

Werner Syndrome (Werner's Syndrome)

1/2022SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

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Rosalba Carrozzo Research Topics

Disease

14Mitochondrial Diseases (Mitochondrial Disease)
08/2022 - 05/2005
7Lactic Acidosis
01/2018 - 08/2006
5Leukoencephalopathies
01/2019 - 09/2014
4Ataxia (Dyssynergia)
12/2023 - 10/2003
3Cardiomyopathies (Cardiomyopathy)
01/2021 - 01/2016
3Leigh Disease (Leigh's Disease)
01/2021 - 06/2013
3Dystonia (Limb Dystonia)
11/2019 - 11/2009
3Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2019 - 08/2006
3Cytochrome-c Oxidase Deficiency
01/2019 - 09/2014
3Friedreich Ataxia (Friedreich's Ataxia)
10/2017 - 10/2003
3Deafness (Deaf Mutism)
03/2013 - 03/2007
2Epilepsy (Aura)
11/2023 - 01/2019
2Neuroblastoma
01/2023 - 05/2017
2Mitochondrial Myopathies (Mitochondrial Myopathy)
08/2022 - 09/2014
2Disease Progression
01/2021 - 11/2009
2Muscular Diseases (Myopathy)
01/2018 - 11/2017
2Mitochondrial encephalopathy
01/2018 - 03/2016
23-Methylglutaconic Aciduria
03/2014 - 08/2006
2Hyperammonemia
03/2014 - 09/2012
2Muscle Hypotonia (Hypotonia)
03/2014 - 08/2006
2Hearing Loss (Hearing Impairment)
11/2009 - 04/2009
2Melanoma (Melanoma, Malignant)
11/2005 - 06/2003
2Osteosarcoma (Osteogenic Sarcoma)
05/2005 - 07/2004
1Muscle Spasticity (Spastic)
12/2023
1Glut1 Deficiency Syndrome
11/2023
1Huntington Disease (Huntington's Disease)
11/2023
1Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
01/2023
1Bloom Syndrome
08/2022
1Werner Syndrome (Werner's Syndrome)
01/2022
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2022
1Usher Syndromes (Usher Syndrome)
01/2021
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2021
1Macular Degeneration (Age-Related Maculopathy)
01/2020
1Optic Atrophy
01/2020
1Parkinsonian Disorders (Parkinsonism)
01/2020
1Renal Insufficiency (Renal Failure)
01/2020
1Barth Syndrome
01/2020
1Cerebellar Ataxia (Dysmetria)
11/2019
1Carcinogenesis
10/2019
1Prostatic Neoplasms (Prostate Cancer)
10/2019
1Pontocerebellar Hypoplasia Type 6
01/2019
1Niemann-Pick Diseases (Niemann Pick Disease)
11/2018
1VLCAD deficiency
06/2018
1Kearns-Sayre Syndrome
06/2018
1Nonketotic Hyperglycinemia
01/2018
1Succinate-Coa Ligase Deficiency
03/2016

Drug/Important Bio-Agent (IBA)

11Mitochondrial DNA (mtDNA)IBA
08/2022 - 07/2004
10Proteins (Proteins, Gene)FDA Link
01/2021 - 06/2003
4Adenosine Triphosphate (ATP)IBA
08/2014 - 05/2009
3coenzyme Q10 (CoQ10)IBA
11/2019 - 05/2012
3Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2019 - 09/2014
3Biomarkers (Surrogate Marker)IBA
11/2018 - 08/2006
3CollagenIBA
11/2017 - 11/2005
3FrataxinIBA
10/2017 - 10/2003
3AcidsIBA
01/2017 - 03/2007
3Oxidoreductases (Dehydrogenase)IBA
01/2017 - 09/2012
3Lactic Acid (Lactate)FDA LinkGeneric
02/2016 - 11/2009
2alpha-tocotrienol quinoneIBA
01/2019 - 06/2013
2Thioctic Acid (Lipoic Acid)IBA
01/2018 - 01/2017
2Nonsense Codon (Nonsense Mutation)IBA
12/2017 - 05/2012
2AntioxidantsIBA
10/2017 - 07/2014
2RNA (Ribonucleic Acid)IBA
05/2017 - 04/2009
2EnzymesIBA
01/2017 - 03/2016
2Riboflavin (Vitamin B2)FDA LinkGeneric
02/2016 - 09/2014
2IronIBA
04/2014 - 10/2003
2Nitric Oxide (Nitrogen Monoxide)FDA Link
03/2014 - 11/2012
2Methylmalonic AcidIBA
11/2009 - 03/2007
2Carnitine (L-Carnitine)FDA LinkGeneric
11/2009 - 03/2007
2Lys Transfer RNAIBA
04/2009 - 05/2005
2Chondroitin Sulfate ProteoglycansIBA
11/2005 - 06/2003
1Peptide Hydrolases (Proteases)FDA Link
12/2023
1Glucose (Dextrose)FDA LinkGeneric
11/2023
1Succinate Dehydrogenase (Fumarate Reductase)IBA
01/2023
1Type I DNA Topoisomerases (Topoisomerase I)IBA
08/2022
1Protein Tyrosine PhosphatasesIBA
01/2022
1Amiodarone (Amiodarona)FDA LinkGeneric
01/2021
1Valine (L-Valine)FDA Link
01/2021
1Carvedilol (Coreg)FDA LinkGeneric
01/2021
1CalreticulinIBA
01/2021
13-methylglutaconic acidIBA
01/2020
1monolysocardiolipinIBA
01/2020
1Cardiolipins (Cardiolipin)IBA
01/2020
1Levodopa (L Dopa)FDA LinkGeneric
01/2020
1Retinaldehyde (Retinal)IBA
01/2020
1Tryptophan-tRNA LigaseIBA
01/2020
1Indicators and Reagents (Reagents)IBA
11/2019
1Mitochondrial RNAIBA
10/2019
1RNase ZIBA
10/2019
1Transfer RNA (tRNA)IBA
10/2019
1Anticonvulsants (Antiepileptic Drugs)IBA
01/2019
1NucleotidesIBA
12/2017
1Tretinoin (Retinoic Acid)FDA LinkGeneric
05/2017
1Peptide Elongation Factor Tu (EF-Tu)IBA
01/2017
1Ketoglutarate Dehydrogenase Complex (Oxoglutarate Dehydrogenase)IBA
01/2017
1Peptide Elongation Factors (Elongation Factor)IBA
01/2017
1glycine cleavage systemIBA
01/2017
1Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA
03/2016
1Succinate-CoA Ligases (Succinyl Coenzyme A Synthetases)IBA
03/2016

Therapy/Procedure

2Therapeutics
01/2021 - 06/2013
1Transplantation
01/2020