Alessandra Ferlini Selected Research

Pontocerebellar Hypoplasia Type 1

11/2013

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

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Alessandra Ferlini Research Topics

Disease

31	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 05/2009
9	Rare Diseases (Rare Disease) 01/2022 - 01/2013
9	Muscular Dystrophies (Muscular Dystrophy) 02/2021 - 12/2007
9	Scleroatonic muscular dystrophy 01/2019 - 01/2007
9	Muscular Diseases (Myopathy) 11/2017 - 01/2007
8	Amyloidosis 09/2021 - 09/2006
8	Dmd-Associated Dilated Cardiomyopathy 03/2012 - 01/2003
6	Cardiomyopathies (Cardiomyopathy) 01/2022 - 03/2006
6	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 04/2008
5	Bethlem myopathy 01/2019 - 04/2008
4	Neuromuscular Diseases (Neuromuscular Disease) 01/2021 - 07/2014
4	Muscle Weakness 10/2015 - 12/2007
3	Cardiovascular Diseases (Cardiovascular Disease) 09/2021 - 06/2011
3	Disease Progression 10/2015 - 01/2013
3	Mitochondrial Diseases (Mitochondrial Disease) 06/2013 - 01/2007
2	Intellectual Disability (Idiocy) 01/2022 - 11/2013
2	Facioscapulohumeral Muscular Dystrophy 01/2021 - 10/2019
2	Brugada Syndrome 01/2020 - 01/2017
2	Thalassemia 06/2016 - 01/2014
2	Fibrosis (Cirrhosis) 07/2014 - 04/2012
2	Atrophy 11/2013 - 05/2002
2	Peripheral Nervous System Diseases (PNS Diseases) 11/2010 - 03/2006
2	Polyneuropathies (Polyneuropathy) 03/2006 - 03/2005
1	Bilateral Vestibulopathy 08/2022
1	Cerebellar Ataxia (Dysmetria) 08/2022
1	Hearing Loss (Hearing Impairment) 01/2022
1	Neurodevelopmental Disorders 01/2022
1	Bundle-Branch Block (Fascicular Block) 01/2022
1	Ventricular Tachycardia 01/2022
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2022
1	Dementia (Dementias) 11/2021
1	Parkinson Disease (Parkinson's Disease) 11/2021
1	Wasting Syndrome (Wasting Disease) 10/2021
1	Chronobiology Disorders (Circadian Rhythm Disorder) 10/2021
1	Laminopathies 01/2020
1	Bradycardia 01/2020
1	Carpal Tunnel Syndrome 01/2020
1	Inflammation (Inflammations) 01/2020
1	Necrosis 01/2020
1	Cardiac Arrhythmias (Arrythmia) 01/2020
1	Arhinia, choanal atresia, and microphthalmia 10/2019
1	Menkes Kinky Hair Syndrome (Menkes Disease) 10/2019
1	Occipital horn syndrome 10/2019
1	Communicable Diseases (Infectious Diseases) 01/2018
1	Neoplasms (Cancer) 01/2018
1	Scoliosis 01/2017
1	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 01/2017
1	Contracture 09/2015
1	Kabuki syndrome 07/2014
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 02/2014
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 11/2013
1	Pontocerebellar Hypoplasia Type 1 11/2013

Drug/Important Bio-Agent (IBA)

31	DystrophinIBA 10/2021 - 01/2003
13	CollagenIBA 01/2019 - 01/2007
12	Proteins (Proteins, Gene)FDA Link 10/2021 - 05/2009
11	Prealbumin (Transthyretin)IBA 09/2021 - 03/2005
9	Antisense OligonucleotidesIBA 01/2021 - 11/2009
9	Biomarkers (Surrogate Marker)IBA 01/2018 - 11/2010
6	RNA (Ribonucleic Acid)IBA 01/2022 - 03/2006
5	Pharmaceutical PreparationsIBA 01/2021 - 02/2012
3	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2020 - 06/2012
3	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/2011 - 01/2007
2	GadoliniumIBA 01/2022 - 07/2014
2	omega-Chloroacetophenone (Mace)IBA 09/2021 - 06/2011
2	MicroRNAs (MicroRNA)IBA 01/2021 - 01/2013
2	Adenosine Triphosphatases (ATPase)IBA 10/2019 - 09/2013
2	Ion Channels (Ion Channel)IBA 01/2017 - 04/2008
2	GlobinsIBA 06/2016 - 01/2014
2	Protein Isoforms (Isoforms)IBA 10/2012 - 03/2012
2	AcidsIBA 06/2011 - 03/2011
2	Messenger RNA (mRNA)IBA 09/2010 - 11/2009
2	OligonucleotidesIBA 06/2010 - 03/2010
1	Replication Protein C (Replication Factor C)IBA 08/2022
1	Transfer RNA (tRNA)IBA 01/2022
1	Codon (Codons)IBA 01/2022
1	Nonsense Codon (Nonsense Mutation)IBA 01/2021
1	MorpholinosIBA 01/2021
1	perfluoropentane (perflenapent)IBA 01/2021
1	Biological ProductsIBA 01/2021
1	Amino Acids FDA Link 01/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Lamin Type A (Lamin A)IBA 01/2020
1	CalciumIBA 01/2020
1	potassium channel protein TREK-1IBA 01/2020
1	Copper-Transporting ATPasesIBA 10/2019
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2017
1	Phosphotransferases (Kinase)IBA 01/2017
1	Peptides (Polypeptides)IBA 01/2017
1	hemoglobin A2'IBA 06/2016
1	SteroidsIBA 10/2015
1	Myosin Light Chains (Myosin Essential Light Chain)IBA 07/2014
1	Malate Dehydrogenase (Dehydrogenase, Malate)IBA 07/2014
1	Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA 07/2014
1	AntibodiesIBA 07/2014
1	Carbonic Anhydrase IIIIBA 07/2014
1	RNA Precursors (Precursor, mRNA)IBA 02/2014
1	Hemoglobins (Hemoglobin)IBA 01/2014

Therapy/Procedure

17	Therapeutics 02/2021 - 01/2007
1	Deep Brain Stimulation 11/2021
1	Precision Medicine 01/2021