Corinne Metay Selected Research

Glycogen

10/2023

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.

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Corinne Metay Research Topics

Disease

4	Muscular Diseases (Myopathy) 01/2024 - 01/2021
2	Cardiomyopathies (Cardiomyopathy) 01/2024 - 01/2020
1	Contracture 01/2024
1	Arthrogryposis 01/2023
1	Muscular Dystrophies (Muscular Dystrophy) 05/2022
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 10/2020
1	Muscle Weakness 10/2020
1	Nemaline Myopathies (Nemaline Myopathy) 01/2020
1	Minicore Myopathy with External Ophthalmoplegia 01/2020
1	Distal Myopathies (Distal Muscular Dystrophy) 01/2020
1	Myofibrillar Myopathy 01/2020
1	Ventricular Tachycardia 01/2019
1	Laminopathies 01/2019
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2019
1	Hearing Loss (Hearing Impairment) 02/2014
1	Anophthalmos (Anophthalmia) 02/2014
1	Kallmann Syndrome (Kallmann's Syndrome) 05/2012

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2024 - 01/2020
2	FilaminsIBA 01/2024 - 01/2020
2	ConnectinIBA 01/2023 - 01/2020
1	GlycogenIBA 10/2023
1	Laminin (Merosin)IBA 05/2022
1	tenascin XIBA 10/2020
1	Myosins (Myosin)IBA 01/2020
1	Messenger RNA (mRNA)IBA 01/2020
1	Growth Hormone (Somatotropin)IBA 02/2014
1	Semaphorin-3AIBA 05/2012

Therapy/Procedure

1	Precision Medicine 01/2021
1	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 01/2019
1	Therapeutics 02/2014