Perrine Charles Selected Research

Gonadotropin-Releasing Hormone (GnRH)

9/2014

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.

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Perrine Charles Research Topics

Disease

9	Ataxia (Dyssynergia) 01/2023 - 06/2012
6	Neurodevelopmental Disorders 10/2023 - 01/2017
6	Disease Progression 01/2023 - 09/2002
6	Intellectual Disability (Idiocy) 12/2022 - 01/2019
5	Epilepsy (Aura) 03/2024 - 12/2014
5	Cerebellar Ataxia (Dysmetria) 11/2023 - 10/2011
5	Huntington Disease (Huntington's Disease) 01/2023 - 07/2007
4	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2023 - 04/2012
3	Hereditary Spastic Paraplegia 01/2022 - 07/2013
2	Brain Diseases (Brain Disorder) 03/2024 - 12/2023
2	Cognitive Dysfunction 01/2023 - 01/2016
2	Movement Disorders (Movement Disorder) 01/2022 - 10/2013
2	Seizures (Absence Seizure) 01/2022 - 10/2011
2	Friedreich Ataxia (Friedreich's Ataxia) 01/2022 - 02/2015
2	Atrophy 12/2014 - 10/2012
2	Tremor (Tremors) 10/2012 - 10/2011
1	Autism Spectrum Disorder 12/2022
1	Kabuki syndrome 01/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Cardiomyopathies (Cardiomyopathy) 01/2022
1	Autistic Disorder (Autism) 01/2020
1	Hypoalbuminemia 01/2018
1	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2018
1	Apraxias (Dyspraxia) 01/2018
1	Inflammation (Inflammations) 01/2018
1	Multiple Abnormalities 01/2018
1	Venous Thrombosis (Deep-Vein Thrombosis) 01/2018
1	Protein C Deficiency 01/2018
1	Congenital Disorders of Glycosylation 01/2018
1	autosomal recessive 1 Spinocerebellar ataxia 01/2018
1	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 01/2018
1	Channelopathies 06/2017
1	Nervous System Diseases (Neurological Disorders) 03/2017
1	Neoplasms (Cancer) 03/2017
1	Rett Syndrome (Rett's Disorder) 01/2017
1	Bone Fractures (Bone Fracture) 01/2017
1	Fragile X Syndrome (Martin Bell Syndrome) 01/2016
1	Spastic ataxia Charlevoix-Saguenay type 12/2015
1	Strabismus (Squint) 12/2014
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2014
1	Muscle Hypotonia (Hypotonia) 12/2014
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 12/2014
1	Infertility (Sterility) 09/2014

Drug/Important Bio-Agent (IBA)

7	Biomarkers (Surrogate Marker)IBA 10/2023 - 07/2007
6	Proteins (Proteins, Gene)FDA Link 01/2022 - 06/2012
3	indium arsenide (InAs)IBA 09/2018 - 02/2015
3	polyglutamineIBA 06/2017 - 04/2012
2	Adenine FDA LinkGeneric 01/2023 - 01/2016
2	CytosineIBA 01/2023 - 01/2016
2	tributyl phosphate (TBP)IBA 01/2023 - 06/2017
2	GuanineIBA 01/2023 - 01/2016
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2021
2	Levodopa (L Dopa)FDA LinkGeneric 01/2018 - 01/2007
2	Anticonvulsants (Antiepileptic Drugs)IBA 05/2017 - 10/2011
1	Cyclic NucleotidesIBA 03/2024
1	Interferon Regulatory Factor-2 (Interferon Regulatory Factor 2)IBA 12/2023
1	Carrier Proteins (Binding Protein)IBA 12/2023
1	Mitochondrial DNA (mtDNA)IBA 11/2023
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 12/2022
1	Carbon DioxideIBA 01/2022
1	FrataxinIBA 01/2022
1	CalciumIBA 01/2022
1	CationsIBA 01/2022
1	Troponin T (Troponin T1)IBA 01/2022
1	PolymersIBA 01/2022
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	RNA Helicases (RNA Helicase)IBA 01/2020
1	Notch ReceptorsIBA 01/2019
1	LigandsIBA 01/2019
1	Factor XI (Plasma Thromboplastin Antecedent)IBA 01/2018
1	Fetal Proteins (Fetoprotein)IBA 01/2018
1	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 01/2018
1	AntithrombinsIBA 01/2018
1	AnticoagulantsIBA 01/2018
1	Glycoproteins (Glycoprotein)IBA 01/2018
1	RivaroxabanIBA 01/2018
1	Polysaccharides (Glycans)IBA 01/2018
1	Serum AlbuminIBA 01/2018
1	CarbohydratesIBA 01/2018
1	Blood Coagulation Factors (Coagulation Factor)IBA 01/2018
1	Sodium Channel BlockersIBA 05/2017
1	Sodium Channels (Sodium Channel)IBA 05/2017
1	SodiumIBA 05/2017
1	Voltage-Gated Sodium ChannelsIBA 05/2017
1	MineralsIBA 01/2017
1	Diphosphonates (Bisphosphonates)IBA 01/2017
1	Cysteamine (Mercaptamine)FDA Link 01/2017
1	CohesinsIBA 01/2017
1	N-ethylcarbaminomethyl-L-isoleucine (A 145)IBA 07/2016
1	mavoglurantIBA 01/2016
1	methionylmethionine (Met-Met)IBA 01/2016
1	Dopamine (Intropin)FDA LinkGeneric 01/2016
1	Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA 01/2016
1	OrnithineIBA 08/2015
1	Amino Acids FDA Link 08/2015
1	Congenital disorder of glycosylation type 1AIBA 12/2014
1	phosphomannomutaseIBA 12/2014
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 09/2014

Therapy/Procedure

3	Therapeutics 05/2017 - 10/2011
1	Activities of Daily Living (ADL) 02/2015