Rami Abou Jamra Selected Research

Paraplegia (Spastic Paraplegia)

11/2013	Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
6/2011	Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

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Rami Abou Jamra Research Topics

Disease

16	Intellectual Disability (Idiocy) 11/2023 - 06/2011
9	Neurodevelopmental Disorders 11/2023 - 10/2016
8	Epilepsy (Aura) 03/2024 - 11/2014
6	Schizophrenia (Dementia Praecox) 09/2010 - 09/2003
5	Microcephaly 01/2022 - 11/2014
3	Mood Disorders (Mood Disorder) 08/2008 - 04/2004
2	Brain Diseases (Brain Disorder) 03/2024 - 01/2020
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2022 - 01/2020
2	Obesity 01/2021 - 01/2021
2	Pontocerebellar Hypoplasia 07/2016 - 01/2016
2	Paraplegia (Spastic Paraplegia) 11/2013 - 06/2011
1	Holoprosencephaly (Arhinencephaly) 03/2024
1	Wolf-Hirschhorn Syndrome 01/2023
1	Febrile Seizures (Febrile Seizure) 12/2022
1	Pediatric Obesity 12/2022
1	Acquired Immunodeficiency Syndrome (AIDS) 11/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Hypopituitarism (Sheehan's Syndrome) 01/2021
1	Morbid Obesity 01/2021
1	Migraine Disorders (Migraine) 11/2020
1	Paroxysmal nonkinesigenic dyskinesia 11/2020
1	Chorea (Rheumatic Chorea) 11/2020
1	Glut1 Deficiency Syndrome 11/2020
1	Sleep Initiation and Maintenance Disorders (Insomnia) 01/2020
1	Congenital Disorders of Glycosylation 01/2020
1	Necrosis 01/2020
1	Mental Disorders (Mental Disorder) 10/2019
1	Seizures (Absence Seizure) 12/2017
1	Neurologic Manifestations (Neurological Manifestations) 09/2017
1	Bilateral Frontoparietal Polymicrogyria 09/2017
1	Neuroblastoma 03/2017
1	Muscular Dystrophies (Muscular Dystrophy) 11/2016
1	Cobblestone Lissencephaly 11/2016
1	Hearing Loss (Hearing Impairment) 09/2016
1	Atrophy 12/2015
1	Cataract (Cataracts) 11/2014
1	Peroxisomal Disorders (Peroxisomal Disorder) 11/2014
1	Strabismus (Squint) 11/2013
1	Absence Epilepsy (Childhood Absence Epilepsy) 04/2013
1	DiGeorge Syndrome (Syndrome, DiGeorge) 09/2005

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 03/2024 - 07/2009
3	RNA (Ribonucleic Acid)IBA 11/2021 - 03/2017
2	Ion Channels (Ion Channel)IBA 01/2021 - 01/2020
2	splicing endonucleaseIBA 07/2016 - 01/2016
2	Neurotransmitter Agents (Neurotransmitter)IBA 09/2005 - 04/2004
1	Cyclic NucleotidesIBA 03/2024
1	IsoenzymesIBA 11/2023
1	Ketoglutarate Dehydrogenase Complex (Oxoglutarate Dehydrogenase)IBA 11/2023
1	NucleotidesIBA 11/2023
1	Lysine (L-Lysine)FDA Link 01/2023
1	Amino Acids FDA Link 01/2023
1	Histones (Histone)IBA 01/2023
1	Qa-SNARE Proteins (Syntaxin)IBA 01/2023
1	Agouti Signaling ProteinIBA 12/2022
1	gamma-Aminobutyric Acid (GABA)IBA 12/2022
1	GABA Plasma Membrane Transport ProteinsIBA 12/2022
1	Amino Acid Transport Systems (Amino Acid Transporter)IBA 12/2022
1	EndocannabinoidsIBA 10/2022
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2022
1	Protein Isoforms (Isoforms)IBA 01/2021
1	Protons (Proton)IBA 01/2021
1	LeptinIBA 01/2021
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2021
1	Leptin ReceptorsIBA 01/2021
1	AnionsIBA 01/2021
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 01/2020
1	Mitogen-Activated Protein KinasesIBA 01/2020
1	LipidsIBA 01/2020
1	HDL CholesterolIBA 01/2020
1	Monomeric GTP-Binding ProteinsIBA 01/2020
1	ChromatinIBA 12/2019
1	AMPA Receptors (AMPA Receptor)IBA 12/2017
1	LigandsIBA 09/2017
1	TATA-Box Binding Protein (TATA-Binding Protein)IBA 03/2017
1	Factor XIII (Coagulation Factor XIII)IBA 03/2017
1	Creatine Kinase (Creatine Phosphokinase)IBA 11/2016
1	lysophosphatidylinositol acyltransferaseIBA 10/2016
1	Phosphatidylinositols (Phosphatidylinositol)IBA 10/2016
1	Adenosine Triphosphatases (ATPase)IBA 09/2016
1	AAA ProteinsIBA 09/2016
1	zinc-binding protein (zinc binding protein)IBA 12/2015
1	ManganeseIBA 12/2015
1	ezrinIBA 02/2015
1	PlasmalogensIBA 11/2014
1	hexadecanal dehydrogenase (acylating) (fatty acyl-CoA reductase)IBA 11/2014
1	Codon (Codons)IBA 11/2013
1	Alkaline PhosphataseIBA 04/2013
1	Adaptor Protein Complex 4IBA 06/2011
1	catechol (pyrocatechol)IBA 09/2010
1	TransferasesIBA 09/2010
1	Vesicle-Associated Membrane Protein 3IBA 08/2008
1	Vesicle-Associated Membrane Protein 2 (VAMP2)IBA 08/2008
1	Serine (L-Serine)FDA Link 08/2008
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 10/2006
1	X-Box Binding Protein 1IBA 01/2006
1	Proline Oxidase (Proline Dehydrogenase)IBA 09/2005
1	alpha Adrenergic ReceptorsIBA 04/2004
1	CatecholaminesIBA 09/2003
1	Dopamine beta-HydroxylaseIBA 09/2003

Therapy/Procedure

1	Ketogenic Diet 11/2020