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Chiara Passarelli Selected Research

Pontocerebellar Hypoplasia Type 1

11/2013Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

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Chiara Passarelli Research Topics

Disease

5Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2020 - 01/2014
2Intellectual Disability (Idiocy)
12/2021 - 11/2013
2Muscular Dystrophies (Muscular Dystrophy)
01/2020 - 12/2012
2Inborn Genetic Diseases (Disease, Hereditary)
04/2016 - 02/2014
1Inflammation (Inflammations)
01/2022
1Blue cone monochromatism
08/2021
1Arthritis (Polyarthritis)
01/2021
1Juvenile Arthritis (Juvenile Idiopathic Arthritis)
01/2021
1COVID-19
10/2020
1Rubella (German Measles)
01/2020
1Measles
01/2020
1Mumps
01/2020
1Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome)
01/2020
1deficiency of adenosine deaminase 2
01/2019
1Necrosis
10/2017
1Skin Manifestations
10/2017
1Bethlem myopathy
04/2016
1Scleroatonic muscular dystrophy
04/2016
1Muscular Diseases (Myopathy)
04/2016
1Muscle Weakness
10/2015
1Disease Progression
10/2015
1Rare Diseases (Rare Disease)
10/2015
1Neuromuscular Diseases (Neuromuscular Disease)
07/2014
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
02/2014
1Pontocerebellar Hypoplasia Type 1
11/2013
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
11/2013
1Atrophy
11/2013
1Hereditary Spastic Paraplegia
11/2013
1Muscle Hypotonia (Hypotonia)
10/2012
1Microcephaly
10/2012
1Metabolic Diseases (Metabolic Disease)
10/2012
1Drug Resistant Epilepsy
10/2012
1Congenital Disorders of Glycosylation
10/2012
1Obesity
05/2012
1Type 1 Diabetes Mellitus (Autoimmune Diabetes)
05/2012
1Iron Overload
12/2009
1Friedreich Ataxia (Friedreich's Ataxia)
12/2009
1Hepatocellular Carcinoma (Hepatoma)
09/2009
1Liver Diseases (Liver Disease)
09/2009

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
12/2021 - 10/2012
3Biomarkers (Surrogate Marker)IBA
10/2020 - 07/2014
3DystrophinIBA
10/2015 - 01/2014
2NF-kappa B (NF-kB)IBA
01/2022 - 09/2009
2InterferonsIBA
01/2020 - 01/2019
2CollagenIBA
04/2016 - 12/2012
1Phosphotransferases (Kinase)IBA
12/2021
1Cone OpsinsIBA
08/2021
1Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link
01/2021
1Messenger RNA (mRNA)IBA
10/2020
1Adrenal Cortex Hormones (Corticosteroids)IBA
01/2020
1Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA
01/2020
1Pharmaceutical PreparationsIBA
01/2020
1Thalidomide (Thalomid)FDA Link
10/2017
1Adenosine DeaminaseIBA
10/2017
1RNA (Ribonucleic Acid)IBA
04/2016
1SteroidsIBA
10/2015
1Antisense OligonucleotidesIBA
02/2014
1RNA Precursors (Precursor, mRNA)IBA
02/2014
1Creatine Kinase (Creatine Phosphokinase)IBA
10/2012
1LipidsIBA
10/2012
1N 30IBA
05/2012
1Reactive Oxygen Species (Oxygen Radicals)IBA
05/2012
1FrataxinIBA
12/2009
1Aconitate Hydratase (Aconitase)IBA
12/2009
1Free RadicalsIBA
12/2009
1IronIBA
12/2009
1EnzymesIBA
12/2009
1Mitochondrial Proteins (Mitochondrial Protein)IBA
12/2009
1AntioxidantsIBA
09/2009

Therapy/Procedure

3Therapeutics
04/2016 - 02/2014