Francesca Gualandi Selected Research

Myofibrillar Myopathy

7/2021

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

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Francesca Gualandi Research Topics

Disease

13	Scleroatonic muscular dystrophy 03/2024 - 01/2007
12	Muscular Diseases (Myopathy) 08/2023 - 01/2007
10	Muscular Dystrophies (Muscular Dystrophy) 03/2024 - 12/2007
9	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 05/2009
9	Graft vs Host Disease (Graft-Versus-Host Disease) 01/2020 - 09/2002
8	Bethlem myopathy 08/2023 - 02/2010
7	Multiple Sclerosis 01/2022 - 03/2005
6	Dmd-Associated Dilated Cardiomyopathy 03/2012 - 06/2003
5	Disease Progression 10/2020 - 06/2005
4	Rare Diseases (Rare Disease) 01/2023 - 07/2014
4	Hematologic Neoplasms (Hematological Malignancy) 01/2023 - 01/2013
3	Muscle Weakness 03/2024 - 12/2007
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 03/2024 - 02/2010
3	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 10/2022 - 01/2010
3	Autoimmune Diseases (Autoimmune Disease) 01/2021 - 01/2006
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 04/2016
3	Infections 02/2019 - 10/2004
3	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 02/2019 - 01/2016
3	Neoplasms (Cancer) 12/2018 - 08/2017
2	Respiratory Insufficiency (Respiratory Failure) 03/2024 - 10/2022
2	Contracture 03/2024 - 09/2015
2	Cardiac Sudden Death (Sudden Cardiac Arrest) 03/2024 - 01/2022
2	Aplastic Anemia (Anemia, Hypoplastic) 01/2023 - 01/2018
2	Leukemia 01/2023 - 01/2016
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	Aspergillosis 04/2012 - 04/2002
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2024
1	Small Fiber Neuropathy 01/2024
1	Pregnancy Complications 01/2023
1	Hypertrophy 12/2022
1	Heart Arrest (Cardiac Arrest) 10/2022
1	Channelopathies 10/2022
1	Polymorphic catecholergic ventricular tachycardia 10/2022
1	Syncope (Fainting) 10/2022
1	Bilateral Vestibulopathy 08/2022
1	Cerebellar Ataxia (Dysmetria) 08/2022
1	Bundle-Branch Block (Fascicular Block) 01/2022
1	Ventricular Tachycardia 01/2022
1	Cardiomyopathies (Cardiomyopathy) 01/2022
1	Dementia (Dementias) 11/2021
1	Parkinson Disease (Parkinson's Disease) 11/2021
1	Myofibrillar Myopathy 07/2021
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2021
1	Bradycardia 01/2020
1	Cardiac Arrhythmias (Arrythmia) 01/2020
1	Laminopathies 01/2020
1	Occipital horn syndrome 10/2019

Drug/Important Bio-Agent (IBA)

18	CollagenIBA 03/2024 - 01/2007
15	DystrophinIBA 02/2021 - 06/2003
9	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2003
6	Cyclophosphamide (Cytoxan)FDA LinkGeneric 01/2023 - 01/2013
5	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/2016 - 01/2007
4	RNA (Ribonucleic Acid)IBA 01/2022 - 07/2011
3	Antilymphocyte Serum (Anti-Thymocyte Globulin)IBA 01/2023 - 09/2002
2	Thiotepa (Triethylenethiophosphoramide)FDA LinkGeneric 01/2023 - 01/2013
2	fludarabineIBA 01/2023 - 01/2013
2	GadoliniumIBA 01/2022 - 07/2014
2	SteroidsIBA 01/2020 - 12/2017
2	AntigensIBA 01/2018 - 04/2002
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	Myelin P0 Protein (Myelin Protein Zero)IBA 01/2024
1	BM 16.2224 (BM 24)IBA 08/2023
1	4-chlorophenyl methyl sulfide (CPMS)IBA 01/2023
1	Melphalan (Alkeran)FDA LinkGeneric 01/2023
1	A 17 (A-17)IBA 12/2022
1	CalciumIBA 10/2022
1	Replication Protein C (Replication Factor C)IBA 08/2022
1	Deoxycytidine KinaseIBA 01/2022
1	deoxynucleotidaseIBA 01/2022
1	Cladribine FDA LinkGeneric 01/2022
1	EnzymesIBA 01/2022
1	Protein AggregatesIBA 07/2021
1	Alkylating AgentsIBA 01/2021
1	HLA Antigens (Human Leukocyte Antigens)IBA 10/2020
1	potassium channel protein TREK-1IBA 01/2020
1	Lamin Type A (Lamin A)IBA 01/2020
1	Monoclonal AntibodiesIBA 01/2020

Therapy/Procedure

11	Transplantation 01/2023 - 10/2014
11	Hematopoietic Stem Cell Transplantation 01/2023 - 03/2005
11	Therapeutics 02/2021 - 06/2005
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	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 03/2024
1	Tracheotomy 10/2022
1	Deep Brain Stimulation 11/2021
1	Precision Medicine 01/2021