Anne-Sophie Nicot Selected Research

Muscular Diseases (Myopathy)

6/2019	Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.
8/2008	Endosomal phosphoinositides and human diseases.

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Anne-Sophie Nicot Research Topics

Disease

11	Congenital Structural Myopathies (Centronuclear Myopathy) 05/2024 - 09/2007
2	Inborn Genetic Diseases (Disease, Hereditary) 06/2019 - 08/2008
2	Muscular Diseases (Myopathy) 06/2019 - 08/2008
2	Neuromuscular Diseases (Neuromuscular Disease) 06/2014 - 07/2006
1	Inclusion Body Myositis 06/2014
1	Proteostasis Deficiencies 06/2014
1	Cadaver (Cadavers) 05/2011
1	Fleck Corneal Dystrophy 08/2008
1	Peripheral Nervous System Diseases (PNS Diseases) 08/2008
1	Type 2B Charcot-Marie-Tooth disease 12/2007
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 12/2007

Drug/Important Bio-Agent (IBA)

7	amphiphysinIBA 05/2024 - 09/2007
5	Proteins (Proteins, Gene)FDA Link 05/2024 - 06/2010
5	Dynamin IIIBA 06/2019 - 09/2007
5	myotubularinIBA 01/2019 - 07/2006
4	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019 - 07/2006
2	EnzymesIBA 01/2016 - 08/2008
2	Phosphoinositide PhosphatasesIBA 05/2011 - 09/2007
1	phosphatidylinositol-3-phosphataseIBA 01/2016
1	Protein AggregatesIBA 06/2014
1	Glycogen Synthase Kinase 3IBA 06/2014
1	Ubiquitinated ProteinsIBA 06/2014
1	Complementary DNA (cDNA)IBA 06/2010
1	P-2 (P 2)IBA 08/2008
1	phosphatidylinositol 3-phosphateIBA 08/2008
1	GTP Phosphohydrolases (GTPases)IBA 12/2007
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 07/2006

Therapy/Procedure

1	Therapeutics 06/2019