Isabel Illa Selected Research

Dysferlin

11/2020	Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
10/2018	Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases.
8/2013	Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
5/2013	Dysferlin regulates cell adhesion in human monocytes.
1/2011	Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
6/2010	Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
4/2009	Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.
6/2006	Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".
8/2005	Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.
10/2004	In vivo and in vitro dysferlin expression in human muscle satellite cells.

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Isabel Illa Research Topics

Disease

18	Myasthenia Gravis 01/2022 - 05/2005
18	Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) 01/2021 - 11/2003
9	Muscular Diseases (Myopathy) 11/2020 - 10/2004
8	Dysferlinopathy 01/2021 - 06/2006
8	Muscular Dystrophies (Muscular Dystrophy) 01/2021 - 08/2005
7	Thymoma (Thymic Carcinoma) 01/2021 - 07/2007
7	Polyneuropathies (Polyneuropathy) 01/2019 - 03/2013
6	Disease Progression 01/2021 - 10/2012
5	Muscle Weakness 11/2020 - 10/2014
5	Glycogen Storage Disease Type II (Pompe's Disease) 01/2020 - 04/2015
5	Dermatomyositis (Dermatopolymyositis) 01/2018 - 05/2005
4	Atrophy 01/2022 - 07/2007
4	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 02/2014 - 01/2002
3	Fibrosis (Cirrhosis) 01/2021 - 10/2018
3	Inflammation (Inflammations) 11/2020 - 06/2010
3	Tremor (Tremors) 01/2019 - 03/2014
3	Demyelinating Diseases (Demyelinating Disease) 01/2019 - 03/2014
3	Neoplasms (Cancer) 05/2018 - 02/2011
3	Autoimmune Diseases (Autoimmune Disease) 09/2017 - 01/2014
3	Miyoshi myopathy 08/2005 - 01/2002
2	Guillain-Barre Syndrome 11/2021 - 11/2020
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 01/2008
2	Sarcoglycanopathies 01/2020 - 01/2018
2	Paraproteinemias (Monoclonal Gammopathy) 01/2019 - 07/2008
2	Peripheral Nervous System Diseases (PNS Diseases) 10/2015 - 03/2014
2	Distal Myopathies (Distal Muscular Dystrophy) 02/2014 - 12/2008
2	Myositis (Idiopathic Inflammatory Myopathies) 05/2005 - 05/2003
1	COVID-19 01/2022
1	Infections 01/2022
1	Agammaglobulinemia (Hypogammaglobulinemia) 01/2022
1	Neuroblastoma 11/2021
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 01/2021
1	Sandhoff Disease (Sandhoff's Disease) 01/2021
1	Small Cell Lung Carcinoma (Small Cell Lung Cancer) 01/2019
1	Meningococcal Infections 01/2019
1	Necrosis 10/2018
1	Nervous System Diseases (Neurological Disorders) 05/2018
1	Paraneoplastic Polyneuropathy 05/2018
1	Aspiration Pneumonia 01/2018
1	Thymus Neoplasms (Thymus Neoplasm) 12/2017
1	Headache (Headaches) 12/2017
1	Meningococcal Meningitis 12/2017

Drug/Important Bio-Agent (IBA)

24	AntibodiesIBA 11/2021 - 05/2005
15	Proteins (Proteins, Gene)FDA Link 01/2022 - 10/2004
15	AutoantibodiesIBA 11/2021 - 10/2013
11	DysferlinIBA 11/2020 - 01/2002
10	Biomarkers (Surrogate Marker)IBA 01/2021 - 10/2012
8	Immunoglobulin G (IgG)IBA 01/2022 - 03/2014
8	Cholinergic ReceptorsIBA 01/2021 - 05/2005
8	Intravenous Immunoglobulins (IVIG)FDA Link 01/2019 - 11/2003
7	Rituximab (Mabthera)FDA Link 01/2022 - 09/2008
6	AntigensIBA 05/2018 - 03/2013
6	muskIBA 01/2018 - 06/2005
4	CortactinIBA 01/2021 - 10/2014
4	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 01/2018 - 06/2005
3	MicroRNAs (MicroRNA)IBA 01/2020 - 01/2014
3	eculizumab FDA Link 01/2019 - 10/2013
2	Messenger RNA (mRNA)IBA 01/2022 - 02/2014
2	Pharmaceutical PreparationsIBA 01/2022 - 01/2020
2	Anti-Idiotypic AntibodiesIBA 11/2021 - 04/2018
2	Contactin 1IBA 01/2021 - 03/2014
2	EnzymesIBA 01/2021 - 01/2020
2	DystrophinIBA 01/2021 - 10/2018
2	Thrombospondin 1IBA 11/2020 - 06/2010
2	alpha-Glucosidases (Acid Maltase)IBA 01/2020 - 01/2020
2	human GAA protein (Myozyme)FDA Link 09/2019 - 04/2015
2	Immunoglobulin M (IgM)IBA 01/2019 - 07/2008
2	Interferon Type IIBA 01/2018 - 02/2016
2	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2017 - 02/2016
2	ConnectinIBA 02/2014 - 12/2008
2	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 02/2011 - 07/2007
1	2019-nCoV Vaccine mRNA-1273IBA 01/2022
1	mRNA VaccinesIBA 01/2022
1	TOR Serine-Threonine KinasesIBA 01/2022
1	VaccinesIBA 01/2022
1	GangliosidesIBA 11/2021
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2021
1	Hexosaminidase A (Hex A)IBA 01/2021
1	AgrinIBA 01/2021
1	CytokinesIBA 01/2020
1	AcidsIBA 01/2020
1	Myelin-Associated GlycoproteinIBA 01/2019
1	glucose-mannose-glucoseIBA 01/2019
1	nintedanibIBA 10/2018
1	Cell Adhesion MoleculesIBA 05/2018
1	Janus Kinase InhibitorsIBA 01/2018
1	MyogeninIBA 01/2018
1	ruxolitinibIBA 01/2018
1	Sarcoglycans (beta Sarcoglycan)IBA 01/2018
1	InterferonsIBA 01/2018
1	Phosphotransferases (Kinase)IBA 01/2018
1	Complement Inactivating AgentsIBA 12/2017
1	Complement System Proteins (Complement)IBA 12/2017

Therapy/Procedure

6	Therapeutics 04/2018 - 10/2003
4	Immunotherapy 04/2018 - 02/2011
2	Thymectomy 12/2017 - 06/2009
2	Stem Cell Transplantation 10/2015 - 07/2006
1	Gastrostomy 01/2018
1	Activities of Daily Living (ADL) 12/2017
1	Plasma Exchange 12/2017