Nicole Monnier Selected Research

Central Core Myopathy (Central Core Disease)

11/2015	Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.
7/2013	Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
4/2006	Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
11/2005	Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
11/2003	Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
5/2003	A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
6/2002	A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

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Nicole Monnier Research Topics

Disease

13	Muscular Diseases (Myopathy) 11/2015 - 05/2003
7	Central Core Myopathy (Central Core Disease) 11/2015 - 06/2002
6	Nemaline Myopathies (Nemaline Myopathy) 07/2014 - 04/2007
4	Malignant Hyperthermia 01/2019 - 05/2003
3	Hereditary Angioedemas 01/2015 - 03/2006
3	Arthrogryposis 07/2014 - 02/2013
3	Minicore Myopathy with External Ophthalmoplegia 04/2006 - 06/2002
2	Cap Myopathy 07/2014 - 07/2010
2	Multiple pterygium syndrome 07/2014 - 02/2009
2	Congenital Structural Myopathies (Centronuclear Myopathy) 07/2014 - 07/2010
2	Contracture 02/2013 - 11/2002
2	Oculocerebrorenal Syndrome (Lowe Syndrome) 04/2011 - 04/2010
2	Ophthalmoplegia (External Ophthalmoplegia) 07/2010 - 05/2003
2	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/2007 - 10/2004
2	Angioedema 03/2006 - 09/2004
1	Muscle Weakness 11/2015
1	Cleft Palate (Palate, Cleft) 04/2013
1	Polymorphic catecholergic ventricular tachycardia 06/2012
1	Sudden Death 06/2012
1	Cardiac Arrhythmias (Arrythmia) 06/2012
1	Dent Disease 04/2011
1	Hereditary Angioedema Type III 11/2009
1	Muscle Hypotonia (Hypotonia) 10/2009
1	Infections 10/2008
1	Hepatocellular Carcinoma (Hepatoma) 03/2006
1	Cystic Fibrosis (Mucoviscidosis) 10/2003

Drug/Important Bio-Agent (IBA)

16	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 11/2015 - 06/2002
7	CalciumIBA 01/2019 - 11/2005
7	TropomyosinIBA 07/2014 - 04/2007
5	Proteins (Proteins, Gene)FDA Link 11/2015 - 01/2007
2	Calcium Channels (Calcium Channel)IBA 11/2015 - 10/2009
2	Protein Isoforms (Isoforms)IBA 07/2014 - 10/2009
2	Nonsense Codon (Nonsense Mutation)IBA 04/2011 - 02/2007
1	Anesthetics (Anesthetic Agents)IBA 01/2019
1	Factor XII (Hageman Factor)IBA 01/2015
1	EndopeptidasesIBA 04/2013
1	triadinIBA 06/2012
1	CalsequestrinIBA 06/2012
1	Initiator Codon (Start Codon)IBA 04/2011
1	icatibantIBA 11/2009
1	Bradykinin Receptors (Bradykinin Receptor)IBA 11/2009
1	Complement System Proteins (Complement)IBA 10/2008
1	Amino Acids FDA Link 02/2007
1	Selenoproteins (Selenoprotein)IBA 01/2007
1	Danazol (Azol)FDA LinkGeneric 07/2006
1	RNA (Ribonucleic Acid)IBA 03/2006
1	Complement C1 Inhibitor Protein (C1 Esterase Inhibitor)IBA 03/2006
1	Messenger RNA (mRNA)IBA 03/2006
1	DystrophinIBA 10/2004
1	Hormones (Hormone)IBA 09/2004
1	ChloridesIBA 10/2003
1	Caffeine (No Doz)FDA LinkGeneric 11/2002
1	Halothane (Fluothane)FDA Link 11/2002

Therapy/Procedure

1	Therapeutics 07/2013
1	Ligation 04/2010