Isabelle Richard Selected Research

Miyoshi myopathy

1/2012	Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.
5/2010	Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.
2/2010	Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
2/2009	Analysis of the DYSF mutational spectrum in a large cohort of patients.
1/2007	Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

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Isabelle Richard Research Topics

Disease

18	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022 - 01/2007
16	Muscular Dystrophies (Muscular Dystrophy) 01/2021 - 10/2005
15	Limb-girdle muscular dystrophy type 2A 01/2021 - 05/2003
13	Sarcoglycanopathies 03/2020 - 01/2007
9	Muscular Diseases (Myopathy) 01/2021 - 04/2007
7	Distal Myopathies (Distal Muscular Dystrophy) 07/2015 - 09/2002
6	type 2B Limb-girdle muscular dystrophy 02/2013 - 01/2007
5	Miyoshi myopathy 01/2012 - 01/2007
4	Inborn Genetic Diseases (Disease, Hereditary) 02/2022 - 05/2008
4	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/2022 - 09/2010
4	Dysferlinopathy 03/2017 - 02/2009
3	Muscle Weakness 01/2022 - 01/2018
3	Type 2L Limb-Girdle Muscular Dystrophy 01/2021 - 02/2010
3	Type 2J Limb-Girdle Muscular Dystrophy 07/2015 - 09/2010
3	Necrosis 06/2013 - 10/2005
3	Low Back Pain (Lumbago) 12/2011 - 03/2004
3	Muscular Atrophy (Muscle Atrophy) 10/2010 - 05/2003
2	Cystic Fibrosis (Mucoviscidosis) 01/2022 - 03/2020
2	Myalgia 12/2020 - 01/2020
2	Pain (Aches) 08/2014 - 03/2004
2	Paraplegia (Spastic Paraplegia) 07/2014 - 03/2009
2	type 2C Limb-girdle muscular dystrophy 02/2013 - 01/2013
2	Cardiomyopathies (Cardiomyopathy) 09/2010 - 08/2007
2	Autolysis 11/2009 - 12/2003
2	Atrophy 02/2009 - 10/2005
1	COVID-19 01/2021
1	Camptocormia 01/2021
1	Hypersensitivity (Allergy) 01/2021
1	Minicore Myopathy with External Ophthalmoplegia 01/2020
1	Systemic Scleroderma (Systemic Sclerosis) 01/2020
1	Interstitial Lung Diseases (Interstitial Lung Disease) 01/2020
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2020
1	Calcinosis 01/2020
1	Cardiotoxicity 11/2019
1	Glycogen Storage Disease Type III (Cori's Disease) 01/2018
1	Neuromuscular Manifestations 01/2018
1	Disease Progression 03/2017
1	Type 2I Limb-Girdle Muscular Dystrophy 01/2017
1	Traumatic Brain Injuries (Traumatic Brain Injury) 01/2016
1	Contracture 12/2015
1	Limb-girdle muscular dystrophy type 2H 07/2015
1	Cerebral Palsy (Spastic Diplegia) 12/2013
1	Type 2G Limb-Girdle Muscular Dystrophy 02/2013
1	Neuromuscular Diseases (Neuromuscular Disease) 12/2009
1	Ankylosing Spondylitis 03/2009
1	Protein Deficiency 02/2009

Drug/Important Bio-Agent (IBA)

25	Proteins (Proteins, Gene)FDA Link 01/2021 - 09/2002
17	CalpainIBA 12/2020 - 05/2003
13	Sarcoglycans (beta Sarcoglycan)IBA 01/2022 - 01/2007
12	ConnectinIBA 01/2021 - 09/2002
10	DysferlinIBA 03/2017 - 01/2007
7	Peptide Hydrolases (Proteases)FDA Link 07/2015 - 12/2003
5	DystrophinIBA 02/2022 - 01/2007
4	CalciumIBA 01/2021 - 02/2006
3	AnoctaminsIBA 01/2021 - 02/2010
3	Messenger RNA (mRNA)IBA 01/2020 - 02/2009
3	Cysteine Proteases (Cysteine Protease)IBA 01/2016 - 02/2006
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2021 - 01/2020
2	Pharmaceutical PreparationsIBA 01/2019 - 03/2004
2	Biomarkers (Surrogate Marker)IBA 01/2016 - 09/2015
2	MicroRNAs (MicroRNA)IBA 01/2016 - 01/2013
1	Simvastatin (Zocor)FDA LinkGeneric 02/2022
1	givinostatIBA 01/2022
1	CholesterolIBA 01/2021
1	VaccinesIBA 01/2021
1	Amino Acids FDA Link 01/2021
1	AutoantibodiesIBA 01/2020
1	Myosins (Myosin)IBA 01/2020
1	SMN Complex ProteinsIBA 01/2020
1	Antinuclear AntibodiesIBA 01/2020
1	EpitopesIBA 12/2019
1	Glycoproteins (Glycoprotein)IBA 01/2019
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2019
1	Thiostrepton (Gargon)IBA 01/2019
1	EnzymesIBA 01/2018
1	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 01/2018
1	Baclofen FDA LinkGeneric 07/2014
1	Complement System Proteins (Complement)IBA 04/2014
1	ProteomeIBA 02/2013
1	Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA 09/2010
1	Chloride Channels (Chloride Channel)IBA 02/2010
1	RNA (Ribonucleic Acid)IBA 12/2009
1	SolutionsIBA 11/2009
1	Etanercept (Enbrel)FDA Link 03/2009
1	Transcription Factors (Transcription Factor)IBA 02/2009
1	Forkhead Box Protein O1IBA 02/2009
1	UbiquitinIBA 02/2009
1	ELAV-Like Protein 2IBA 02/2009
1	Proteasome Endopeptidase Complex (Proteasome)IBA 02/2009
1	Biological ProductsIBA 05/2008
1	DNA (Deoxyribonucleic Acid)IBA 05/2008
1	CytokinesIBA 05/2008
1	CASP8 and FADD-Like Apoptosis Regulating Protein (FLIP-S)IBA 05/2008

Therapy/Procedure

9	Therapeutics 03/2020 - 03/2004
2	Denervation 02/2009 - 12/2006
2	Physical Therapy Modalities (Physical Therapy Technique) 10/2007 - 03/2004
2	Intra-Arterial Injections 01/2007 - 01/2007
1	Subacute Care 01/2021
1	Activities of Daily Living (ADL) 01/2016
1	Telerehabilitation 12/2013