Isabelle Maystadt Selected Research

Tyrosine (L-Tyrosine)

3/2015

DYRK1A mutations in two unrelated patients.

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Isabelle Maystadt Research Topics

Disease

6	Intellectual Disability (Idiocy) 07/2022 - 03/2009
3	Microcephaly 01/2023 - 03/2015
2	Neurodevelopmental Disorders 01/2022 - 01/2021
2	Persistent Fetal Circulation Syndrome 05/2016 - 01/2013
1	Brain Diseases (Brain Disorder) 01/2022
1	Hyperphosphatemia 01/2022
1	Hypocalcemia 01/2022
1	Thoracic Aortic Aneurysm 01/2021
1	Campomelic Dysplasia 07/2019
1	Muscular Diseases (Myopathy) 01/2019
1	Congenital Heart Defects (Congenital Heart Defect) 01/2018
1	Muscle Hypotonia (Hypotonia) 01/2018
1	Prader-Willi Syndrome (Syndrome, Prader-Willi) 01/2018
1	Xerostomia 01/2018
1	Pediatric Obesity 01/2018
1	Rett Syndrome (Rett's Disorder) 10/2016
1	Seizures (Absence Seizure) 03/2015
1	Autism Spectrum Disorder 03/2015
1	Down Syndrome (Down's Syndrome) 03/2015
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 08/2014
1	Muscular Dystrophies (Muscular Dystrophy) 05/2012
1	Hydrocephalus (Hydrocephaly) 05/2012
1	Walker-Warburg Syndrome 05/2012
1	Kabuki syndrome 01/2012
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 05/2010
1	Mucopolysaccharidoses 05/2010
1	Motor Neuron Disease (Primary Lateral Sclerosis) 07/2007

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 07/2022 - 01/2018
2	EnzymesIBA 01/2022 - 05/2010
2	Long Noncoding RNAIBA 05/2016 - 01/2013
1	NucleotidesIBA 01/2023
1	Vitamin D FDA LinkGeneric 01/2022
1	Parathyroid Hormone (Parathormone)IBA 01/2022
1	hypusineIBA 01/2022
1	GTP Phosphohydrolases (GTPases)IBA 01/2022
1	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 01/2021
1	Karyopherins (Importin)IBA 01/2021
1	Indicators and Reagents (Reagents)IBA 07/2019
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2019
1	Protein Kinases (Protein Kinase)IBA 01/2018
1	Growth Hormone (Somatotropin)IBA 01/2018
1	MorpholinosIBA 11/2016
1	Carrier Proteins (Binding Protein)IBA 10/2016
1	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 10/2015
1	Tyrosine (L-Tyrosine)FDA Link 03/2015
1	Nonsense Codon (Nonsense Mutation)IBA 03/2015
1	Phosphotransferases (Kinase)IBA 03/2015
1	Oxygen (Dioxygen)IBA 08/2014
1	Dystroglycans (Dystroglycan)IBA 05/2012
1	Histone DemethylasesIBA 01/2012
1	Histones (Histone)IBA 01/2012
1	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 05/2010
1	OligonucleotidesIBA 03/2009
1	NF-kappa B (NF-kB)IBA 07/2007

Therapy/Procedure

1	Therapeutics 08/2014