Lydie Burglen Selected Research

N-ethylcarbaminomethyl-L-isoleucine (A 145)

7/2016

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

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Lydie Burglen Research Topics

Disease

3	Autistic Disorder (Autism) 01/2020 - 02/2005
3	Intellectual Disability (Idiocy) 01/2020 - 03/2010
3	Ataxia (Dyssynergia) 07/2016 - 06/2012
3	Ciliopathies 02/2016 - 01/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2022 - 02/2005
2	Pontocerebellar Hypoplasia 06/2021 - 11/2020
2	Epilepsy (Aura) 01/2020 - 06/2018
1	Dysphonia (Spastic Dysphonia) 12/2020
1	Parkinsonian Disorders (Parkinsonism) 12/2020
1	Dystonia (Limb Dystonia) 12/2020
1	Megalencephaly 01/2020
1	Disease Progression 01/2020
1	Autoimmune Diseases (Autoimmune Disease) 01/2020
1	Microcephaly 01/2020
1	Neurodevelopmental Disorders 12/2019
1	Telangiectasis (Telangiectasia) 10/2019
1	Ataxia Telangiectasia (Louis Bar Syndrome) 10/2019
1	Atrophy 09/2017
1	Infantile Spasms (West Syndrome) 09/2017
1	Meckel syndrome type 1 01/2017
1	Orofaciodigital Syndromes (Orofaciodigital Syndrome) 01/2016
1	Spastic ataxia Charlevoix-Saguenay type 12/2015
1	Infections 10/2014
1	Brain Diseases (Brain Disorder) 10/2014
1	Coloboma of optic nerve 01/2014
1	Agenesis of Cerebellar Vermis 01/2014
1	Penis agenesis 01/2014
1	Polydactyly (Polydactylism) 01/2014
1	Obesity 01/2014
1	Retinal Dystrophies 01/2014
1	Movement Disorders (Movement Disorder) 10/2013
1	Coenzyme Q10 Deficiency 10/2013
1	Drug Resistant Epilepsy 03/2008
1	Seizures (Absence Seizure) 03/2008
1	Autism Spectrum Disorder 01/2007
1	Asperger Syndrome (Asperger's Syndrome) 01/2007
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 02/2005
1	Phenylketonurias (Phenylketonuria) 02/2005
1	Tuberous Sclerosis (Bourneville's Disease) 02/2005
1	Angelman Syndrome (Syndrome, Angelman) 02/2005
1	Smith-Lemli-Opitz Syndrome 02/2005
1	Cohen syndrome 02/2005
1	Smith-Magenis Syndrome 02/2005
1	Down Syndrome (Down's Syndrome) 02/2005
1	Ring Chromosomes (Ring Chromosome) 07/2004
1	Williams Syndrome (Williams-Beuren Syndrome) 07/2004

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 12/2020 - 01/2007
2	coenzyme Q10 (CoQ10)IBA 01/2020 - 10/2013
2	SpectrinIBA 01/2020 - 09/2017
2	DNA (Deoxyribonucleic Acid)IBA 10/2019 - 06/2012
2	SteroidsIBA 10/2014 - 03/2008
1	EndocannabinoidsIBA 10/2022
1	Inositol PhosphatesIBA 06/2021
1	Phytic Acid (Inositol Hexaphosphate)IBA 11/2020
1	Chelating AgentsIBA 11/2020
1	Biological ProductsIBA 01/2020
1	RNA Helicases (RNA Helicase)IBA 01/2020
1	AMPA Receptors (AMPA Receptor)IBA 12/2019
1	Pharmaceutical PreparationsIBA 06/2018
1	N-ethylcarbaminomethyl-L-isoleucine (A 145)IBA 07/2016
1	DNA Transposable Elements (Element, IS)IBA 02/2016
1	Biomarkers (Surrogate Marker)IBA 12/2015
1	ran-binding protein 2IBA 10/2014
1	Carrier Proteins (Binding Protein)IBA 01/2014
1	prenylIBA 01/2014
1	UbiquinoneIBA 10/2013
1	OligonucleotidesIBA 03/2010
1	NeuroliginsIBA 01/2007
1	Adenylosuccinate lyase deficiencyIBA 02/2005
1	ElastinIBA 07/2004

Therapy/Procedure

1	Deep Brain Stimulation 12/2020
1	Therapeutics 10/2013