Darius Ebrahimi-Fakhari Selected Research

autosomal recessive Spastic paraplegia 26

9/2022

Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.

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Darius Ebrahimi-Fakhari Research Topics

Disease

10	Parkinson Disease (Parkinson's Disease) 12/2013 - 01/2011
9	Hereditary Spastic Paraplegia 09/2022 - 02/2016
7	Tuberous Sclerosis (Bourneville's Disease) 10/2019 - 04/2015
6	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2013 - 01/2011
5	Movement Disorders (Movement Disorder) 01/2019 - 01/2015
4	Absent corpus callosum cataract immunodeficiency 01/2019 - 02/2016
4	Mitochondrial Diseases (Mitochondrial Disease) 09/2017 - 01/2014
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2019 - 02/2016
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019 - 02/2016
3	Parkinsonian Disorders (Parkinsonism) 03/2018 - 01/2014
3	Ataxia (Dyssynergia) 03/2018 - 04/2016
3	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 03/2018 - 01/2016
2	Neurodevelopmental Disorders 01/2022 - 03/2016
2	Carcinogenesis 12/2020 - 01/2017
2	Mucopolysaccharidoses 03/2018 - 09/2017
2	Chorea (Rheumatic Chorea) 03/2018 - 04/2016
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 03/2018 - 09/2017
2	Dystonia (Limb Dystonia) 03/2018 - 04/2016
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2018 - 03/2011
2	Neoplasms (Cancer) 01/2017 - 03/2015
2	Intellectual Disability (Idiocy) 02/2016 - 03/2015
2	Epilepsy (Aura) 07/2015 - 03/2015
2	Fragile X Syndrome (Martin Bell Syndrome) 07/2015 - 04/2015
2	Autistic Disorder (Autism) 07/2015 - 04/2015
2	Synucleinopathies 12/2013 - 05/2012
2	Dementia (Dementias) 05/2012 - 02/2012
1	autosomal recessive Spastic paraplegia 26 09/2022
1	Rare Diseases (Rare Disease) 09/2022
1	Brain Diseases (Brain Disorder) 01/2022
1	Paraplegia (Spastic Paraplegia) 08/2021
1	Polymicrogyria 10/2020
1	recessive Spastic paraplegia type 5A 01/2020
1	Cataract (Cataracts) 01/2019
1	Cardiomyopathies (Cardiomyopathy) 01/2019
1	Hypopigmentation (Hypomelanosis) 01/2019
1	Restless Legs Syndrome (Restless Legs) 03/2018
1	Myoclonus (Nocturnal Myoclonus) 03/2018
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 03/2018
1	Tremor (Tremors) 03/2018
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2018
1	Rhabdomyoma 01/2018
1	Seizures (Absence Seizure) 01/2018
1	Spinocerebellar ataxia 20 01/2018
1	Motor Neuron Disease (Primary Lateral Sclerosis) 01/2018
1	Globoid Cell Leukodystrophy (Krabbe Disease) 09/2017
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 09/2017
1	Gaucher Disease (Gaucher's Disease) 09/2017
1	Shock 05/2017
1	Respiratory Insufficiency (Respiratory Failure) 05/2017
1	Coma (Comas) 05/2017
1	Lactic Acidosis 05/2017
1	Neurologic Manifestations (Neurological Manifestations) 04/2017
1	Spastic Paraparesis 04/2016
1	Cerebellar Ataxia (Dysmetria) 02/2016
1	Acidosis 09/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 07/2015
1	Autism Spectrum Disorder 07/2015
1	Telomeric 22q13 Monosomy Syndrome 04/2015
1	Angelman Syndrome (Syndrome, Angelman) 04/2015
1	Neuroblastoma 03/2015
1	Opsoclonus-Myoclonus Syndrome (Kinsbourne Syndrome) 03/2015

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2011
7	trans-sodium crocetinate (crocetin)IBA 10/2019 - 04/2015
6	SynucleinsIBA 01/2014 - 10/2011
5	Adaptor Protein Complex 4IBA 01/2021 - 10/2019
4	Mechanistic Target of Rapamycin Complex 1IBA 12/2020 - 10/2016
3	IronIBA 01/2022 - 04/2016
3	Molecular Chaperones (Chaperone, Molecular)IBA 12/2013 - 01/2011
2	Glutathione (Reduced Glutathione)IBA 12/2020 - 01/2017
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2019 - 12/2015
2	Lysergic Acid Diethylamide (LSD)IBA 03/2018 - 09/2017
2	Lactic Acid (Lactate)FDA LinkGeneric 05/2017 - 09/2015
2	Pharmaceutical PreparationsIBA 05/2017 - 02/2016
2	Phosphotransferases (Kinase)IBA 10/2016 - 07/2015
2	LipidsIBA 01/2016 - 01/2014
2	alpha-SynucleinIBA 05/2013 - 02/2012
2	UbiquitinIBA 10/2011 - 03/2011
2	Proteasome Endopeptidase Complex (Proteasome)IBA 10/2011 - 03/2011
1	GangliosidesIBA 09/2022
1	Indicators and Reagents (Reagents)IBA 08/2021
1	CreatineIBA 01/2019
1	AcidsIBA 01/2019
1	MetalsIBA 01/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	Messenger RNA (mRNA)IBA 01/2019
1	VitaminsIBA 01/2019
1	MicroRNAs (MicroRNA)IBA 01/2018
1	CeroidIBA 09/2017
1	barbituric acid (barbiturate)IBA 05/2017
1	Carbamazepine (Tegretol)FDA LinkGeneric 05/2017
1	TabletsIBA 05/2017
1	GlycogenIBA 03/2016
1	Creatine Kinase (Creatine Phosphokinase)IBA 09/2015
1	Sirolimus (Rapamycin)FDA Link 07/2015
1	AntibodiesIBA 03/2015
1	Dihydroxyphenylalanine (Dopa)IBA 01/2015
1	Dopamine (Intropin)FDA LinkGeneric 01/2014

Therapy/Procedure

3	Therapeutics 01/2019 - 04/2015
1	Investigational Therapies (Experimental Therapy) 09/2017
1	Drug Therapy (Chemotherapy) 03/2015