Francesca Gualandi 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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Francesca Gualandi Research Topics

Disease

11	Muscular Diseases (Myopathy) 07/2021 - 01/2007
11	Scleroatonic muscular dystrophy 01/2019 - 01/2007
9	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 05/2009
9	Muscular Dystrophies (Muscular Dystrophy) 02/2021 - 12/2007
9	Graft vs Host Disease (Graft-Versus-Host Disease) 01/2020 - 09/2002
7	Multiple Sclerosis 06/2022 - 03/2005
7	Bethlem myopathy 01/2019 - 02/2010
6	Dmd-Associated Dilated Cardiomyopathy 03/2012 - 06/2003
5	Disease Progression 10/2020 - 06/2005
3	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 10/2022 - 01/2010
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 04/2016
3	Autoimmune Diseases (Autoimmune Disease) 01/2021 - 01/2006
3	Rare Diseases (Rare Disease) 01/2020 - 07/2014
3	Infections 02/2019 - 10/2004
3	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 02/2019 - 01/2016
3	Hematologic Neoplasms (Hematological Malignancy) 01/2019 - 01/2013
3	Neoplasms (Cancer) 12/2018 - 08/2017
2	Bronchiolitis Obliterans Syndrome 12/2022 - 01/2019
2	Primary Myelofibrosis (Myelosclerosis) 01/2021 - 02/2016
2	Brugada Syndrome 01/2020 - 01/2017
2	Neutropenia 01/2018 - 10/2004
2	Fibrosis (Cirrhosis) 07/2014 - 04/2012
2	Atrophy 11/2013 - 10/2012
2	Mitochondrial Diseases (Mitochondrial Disease) 06/2013 - 01/2007
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 09/2012 - 02/2010
2	Muscle Weakness 08/2012 - 12/2007
2	Aspergillosis 04/2012 - 04/2002
1	Respiratory Insufficiency (Respiratory Failure) 10/2022
1	Cerebellar Ataxia (Dysmetria) 08/2022
1	Bilateral Vestibulopathy 08/2022
1	Bundle-Branch Block (Fascicular Block) 01/2022
1	Cardiomyopathies (Cardiomyopathy) 01/2022
1	Ventricular Tachycardia 01/2022
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2022
1	Parkinson Disease (Parkinson's Disease) 11/2021
1	Dementia (Dementias) 11/2021
1	Myofibrillar Myopathy 07/2021
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2021
1	Cardiac Arrhythmias (Arrythmia) 01/2020
1	Bradycardia 01/2020
1	Laminopathies 01/2020
1	Occipital horn syndrome 10/2019
1	Menkes Kinky Hair Syndrome (Menkes Disease) 10/2019
1	Hodgkin Disease (Hodgkin's Disease) 12/2018
1	Myeloproliferative Disorders (Myeloproliferative Disorder) 01/2018
1	Dizziness (Lightheadedness) 01/2018
1	Fatigue 01/2018
1	Aplastic Anemia (Anemia, Hypoplastic) 01/2018
1	Sepsis (Septicemia) 01/2018
1	Left Ventricular Dysfunction 01/2018
1	Heart Failure 01/2018
1	Second Primary Neoplasms (Neoplasms, Second) 01/2018

Drug/Important Bio-Agent (IBA)

16	CollagenIBA 01/2019 - 01/2007
15	DystrophinIBA 02/2021 - 06/2003
9	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2003
5	Cyclophosphamide (Cytoxan)FDA LinkGeneric 01/2019 - 01/2013
5	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/2016 - 01/2007
4	RNA (Ribonucleic Acid)IBA 01/2022 - 07/2011
3	Pharmaceutical PreparationsIBA 06/2022 - 01/2018
2	GadoliniumIBA 01/2022 - 07/2014
2	Biological ProductsIBA 01/2021 - 02/2011
2	SteroidsIBA 01/2020 - 12/2017
2	AntigensIBA 01/2018 - 04/2002
2	Antilymphocyte Serum (Anti-Thymocyte Globulin)IBA 10/2014 - 09/2002
2	Prostaglandins FIBA 09/2014 - 07/2006
2	Biomarkers (Surrogate Marker)IBA 07/2014 - 06/2013
2	Protein Isoforms (Isoforms)IBA 10/2012 - 03/2012
2	CalpainIBA 09/2012 - 02/2010
2	galactomannanIBA 04/2012 - 04/2002
2	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 02/2011 - 01/2010
2	Connexin 26IBA 12/2005 - 01/2003
1	Replication Protein C (Replication Factor C)IBA 08/2022
1	EnzymesIBA 06/2022
1	deoxynucleotidaseIBA 06/2022
1	Cladribine FDA LinkGeneric 06/2022
1	Deoxycytidine KinaseIBA 06/2022
1	Protein AggregatesIBA 07/2021
1	Alkylating AgentsIBA 01/2021
1	HLA Antigens (Human Leukocyte Antigens)IBA 10/2020
1	Lamin Type A (Lamin A)IBA 01/2020
1	potassium channel protein TREK-1IBA 01/2020
1	Monoclonal AntibodiesIBA 01/2020
1	Copper-Transporting ATPasesIBA 10/2019
1	Rituximab (Mabthera)FDA Link 02/2019
1	Lamivudine (Epivir)FDA Link 02/2019
1	lipoarabinomannan (LAM)IBA 02/2019
1	IvabradineIBA 01/2018
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2018
1	Angiotensin Receptor AntagonistsIBA 01/2018
1	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 01/2018

Therapy/Procedure

11	Therapeutics 02/2021 - 06/2005
10	Hematopoietic Stem Cell Transplantation 10/2022 - 03/2005
9	Transplantation 01/2021 - 10/2014
4	Stem Cell Transplantation 12/2022 - 06/2005
2	Cell Transplantation 12/2018 - 01/2018
2	Drug Therapy (Chemotherapy) 12/2018 - 10/2004
2	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2017 - 01/2013
1	Tracheotomy 10/2022
1	Deep Brain Stimulation 11/2021
1	Precision Medicine 01/2021