Virginie Carmignac Selected Research

Early-Onset Myopathy with Fatal Cardiomyopathy

6/2008	Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.
4/2007	C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

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Virginie Carmignac Research Topics

Disease

5	Muscular Dystrophies (Muscular Dystrophy) 05/2014 - 09/2008
3	Cohen syndrome 01/2019 - 05/2014
2	Neurodevelopmental Disorders 01/2022 - 01/2020
2	Intellectual Disability (Idiocy) 01/2020 - 01/2019
2	Fibrosis (Cirrhosis) 12/2011 - 02/2011
2	Early-Onset Myopathy with Fatal Cardiomyopathy 06/2008 - 04/2007
2	Muscular Diseases (Myopathy) 06/2008 - 04/2007
1	Neoplasms (Cancer) 01/2022
1	Vascular Malformations 11/2021
1	Hemorrhage 11/2021
1	Pain (Aches) 11/2021
1	Tuberous Sclerosis (Bourneville's Disease) 01/2021
1	Hypopigmentation (Hypomelanosis) 01/2021
1	Seizures (Absence Seizure) 11/2020
1	Drug Resistant Epilepsy 11/2020
1	Marfan Syndrome (Marfan's Syndrome) 04/2020
1	Cardiomyopathies (Cardiomyopathy) 01/2020
1	Leukemia 11/2019
1	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 11/2019
1	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma (T-ALL) 11/2019
1	Neutropenia 01/2019
1	Alopecia (Baldness) 01/2019
1	Infections 01/2019
1	Cataract (Cataracts) 01/2019
1	Type 2 Diabetes Mellitus (MODY) 12/2015
1	Insulin Resistance 12/2015
1	Diabetes Mellitus 12/2015
1	Silver-Russell Syndrome 06/2015
1	Multiple Myeloma 05/2014
1	Body Weight (Weight, Body) 05/2014
1	Mantle-Cell Lymphoma (Lymphoma, Mantle Cell) 05/2014
1	Ataxia (Dyssynergia) 06/2012
1	Neointima 01/2012
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2012
1	Atrophy 12/2011
1	Muscular Atrophy (Muscle Atrophy) 02/2011
1	Type 2J Limb-Girdle Muscular Dystrophy 06/2008
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 06/2008

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 12/2015 - 06/2008
5	Laminin (Merosin)IBA 05/2014 - 09/2008
3	DNA (Deoxyribonucleic Acid)IBA 11/2020 - 06/2012
2	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022 - 05/2014
2	ConnectinIBA 06/2008 - 04/2007
1	F-Box ProteinsIBA 01/2022
1	CyclinsIBA 01/2022
1	UbiquitinIBA 01/2022
1	Sirolimus (Rapamycin)FDA Link 11/2021
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2021
1	Everolimus FDA Link 11/2020
1	Amino Acids FDA Link 04/2020
1	Fragile X Mental Retardation ProteinIBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	ChromatinIBA 01/2020
1	Interleukin-7 (Interleukin 7)IBA 11/2019
1	CytokinesIBA 11/2019
1	Biological ProductsIBA 01/2019
1	CholesterolIBA 01/2019
1	lanosterol synthaseIBA 01/2019
1	SerpinsIBA 01/2019
1	Glucose (Dextrose)FDA LinkGeneric 12/2015
1	Insulin (Novolin)FDA Link 12/2015
1	Bortezomib (Velcade)FDA Link 05/2014
1	Membrane Proteins (Integral Membrane Proteins)IBA 05/2014
1	MicroRNAs (MicroRNA)IBA 05/2014
1	Proteasome InhibitorsIBA 05/2014
1	DystrophinIBA 01/2012
1	3-methyladenineIBA 12/2011
1	benzyloxycarbonylleucyl-leucyl-leucine aldehydeIBA 02/2011
1	IntegrinsIBA 09/2008
1	Phosphotransferases (Kinase)IBA 04/2007

Therapy/Procedure

2	Therapeutics 11/2021 - 05/2014