Pascal Joset Selected Research

Proteins (Proteins, Gene)

1/2019	Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
1/2019	Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Pascal Joset Research Topics

Disease

5	Neurodevelopmental Disorders 01/2021 - 01/2018
5	Intellectual Disability (Idiocy) 01/2019 - 10/2013
4	Seizures (Absence Seizure) 01/2021 - 02/2016
3	Brain Diseases (Brain Disorder) 01/2019 - 02/2016
2	Tetralogy of Fallot (Fallot Tetralogy) 10/2021 - 10/2021
2	Genomic Instability 10/2020 - 07/2015
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 01/2021
1	Infections 01/2021
1	Inflammation (Inflammations) 01/2021
1	Virus Diseases (Viral Diseases) 01/2021
1	Lung Diseases (Lung Disease) 01/2021
1	Schizophrenia (Dementia Praecox) 01/2021
1	Ataxia Telangiectasia (Louis Bar Syndrome) 10/2020
1	Breast Neoplasms (Breast Cancer) 10/2020
1	Trisomy (Trisomies) 09/2020
1	Agenesis of Corpus Callosum 10/2019
1	Autistic Disorder (Autism) 01/2019
1	Cardiotoxicity 12/2018
1	Megalencephaly 01/2018
1	Primrose syndrome 01/2018
1	Epilepsy (Aura) 12/2017
1	Retinal Degeneration 01/2017
1	Language Disorders (Language Disorder) 01/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017
1	Iron Overload 02/2016
1	Muscle Hypotonia (Hypotonia) 02/2016
1	Snyder Robinson syndrome 01/2016
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 10/2015
1	Disease Progression 10/2015
1	Hypersensitivity (Allergy) 07/2015

Drug/Important Bio-Agent (IBA)

2	Vascular Endothelial Growth Factor Receptors (VEGF Receptors)IBA 10/2021 - 10/2021
2	RNA (Ribonucleic Acid)IBA 01/2021 - 12/2018
2	Proteins (Proteins, Gene)FDA Link 01/2019 - 01/2019
1	Vascular Endothelial Growth Factor Receptor-2 (Vascular Endothelial Growth Factor Receptor 2)IBA 10/2021
1	Messenger RNA (mRNA)IBA 01/2021
1	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 01/2021
1	Histone MethyltransferasesIBA 01/2021
1	Histones (Histone)IBA 01/2021
1	Interferon Type IIBA 01/2021
1	InterferonsIBA 01/2021
1	Lysine (L-Lysine)FDA Link 01/2021
1	MethyltransferasesIBA 01/2021
1	Nucleic AcidsIBA 01/2021
1	Phosphotransferases (Kinase)IBA 10/2020
1	dichlorobis(azomycin)platinum IIIBA 09/2020
1	EnzymesIBA 01/2020
1	Cadherins (E-Cadherin)IBA 10/2019
1	Amino Acids FDA Link 01/2019
1	Insulin (Novolin)FDA Link 01/2018
1	F-Box ProteinsIBA 01/2018
1	Glucose (Dextrose)FDA LinkGeneric 01/2018
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 12/2017
1	Valproic Acid (Depakote)FDA LinkGeneric 12/2017
1	Vitamin B 6IBA 12/2017
1	Aconitate Hydratase (Aconitase)IBA 01/2017
1	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 01/2017
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 02/2016
1	Spermine SynthaseIBA 01/2016
1	Biomarkers (Surrogate Marker)IBA 01/2016
1	N(8)-acetylspermidineIBA 01/2016
1	muskIBA 10/2015
1	1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA 07/2015
1	DNA (Deoxyribonucleic Acid)IBA 07/2015
1	Mediator ComplexIBA 10/2013

Therapy/Procedure

1	Adjuvant Radiotherapy 10/2020
1	Radiotherapy 10/2020
1	Therapeutics 12/2017