Jamel Chelly Selected Research

Intellectual Disability (Idiocy)

1/2019	TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
1/2019	Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
1/2018	A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.
11/2017	De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
1/2016	Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.
12/2015	Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.
2/2015	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
1/2015	Variants in CUL4B are associated with cerebral malformations.
4/2014	A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
1/2011	Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.

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Jamel Chelly Research Topics

Disease

27	Intellectual Disability (Idiocy) 01/2019 - 04/2002
12	Rett Syndrome (Rett's Disorder) 12/2015 - 01/2002
12	X-Linked Mental Retardation (Mental Retardation, X Linked) 05/2010 - 04/2002
11	Epilepsy (Aura) 01/2020 - 10/2006
9	Lissencephaly 01/2018 - 01/2007
6	Neurodevelopmental Disorders 01/2020 - 06/2006
5	Microcephaly 04/2016 - 02/2011
5	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 12/2014 - 02/2007
5	Polymicrogyria 03/2014 - 06/2009
5	Muscular Dystrophies (Muscular Dystrophy) 08/2013 - 01/2004
5	Cognitive Dysfunction 05/2010 - 06/2003
4	Malformations of Cortical Development 04/2022 - 03/2014
4	Seizures (Absence Seizure) 01/2020 - 06/2008
4	Autism Spectrum Disorder 11/2019 - 01/2011
4	Fibrosis (Cirrhosis) 08/2012 - 09/2008
4	Brain Diseases (Brain Disorder) 02/2011 - 01/2002
4	Autistic Disorder (Autism) 05/2010 - 03/2004
3	Inborn Genetic Diseases (Disease, Hereditary) 09/2013 - 09/2008
3	Hepatocellular Carcinoma (Hepatoma) 08/2012 - 11/2003
2	Parkinsonian Disorders (Parkinsonism) 11/2020 - 01/2020
2	Dystonia (Limb Dystonia) 01/2020 - 01/2011
2	Movement Disorders (Movement Disorder) 01/2020 - 10/2018
2	Muscular Diseases (Myopathy) 12/2018 - 01/2018
2	Ocular Motility Disorders (Convergence Insufficiency) 12/2012 - 11/2010
2	Hepatitis C 08/2012 - 09/2008
2	Classical Lissencephalies and Subcortical Band Heterotopias 06/2010 - 01/2005
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 04/2009 - 07/2008
2	Sarcoglycanopathies 09/2008 - 07/2008
2	Cystic Fibrosis (Mucoviscidosis) 09/2008 - 01/2006
1	Ataxia (Dyssynergia) 05/2021
1	Opsoclonus-Myoclonus Syndrome (Kinsbourne Syndrome) 01/2020
1	Dystonic Disorders (Writer's Cramp) 01/2020
1	Focal Cortical Dysplasia 01/2019
1	Porencephaly 12/2018
1	Hemolytic Anemia 12/2018
1	Schizencephaly 12/2018
1	Periventricular Nodular Heterotopia 01/2018
1	Cockayne Syndrome (Syndrome, Cockayne) 01/2018
1	Dermatomyositis (Dermatopolymyositis) 01/2018
1	Nervous System Diseases (Neurological Disorders) 09/2017
1	Cleft Palate (Palate, Cleft) 11/2016
1	Syndactyly (Polysyndactyly) 11/2016
1	Limb-girdle muscular dystrophy type 2H 07/2015
1	Learning Disabilities (Learning Disability) 01/2014
1	Muscle Hypotonia (Hypotonia) 02/2013
1	Strabismus (Squint) 02/2013
1	Muscle Weakness 01/2013
1	Diamond-Blackfan Anemia (Anemia, Diamond Blackfan) 01/2013
1	Cerebellar Ataxia (Dysmetria) 09/2012

Drug/Important Bio-Agent (IBA)

21	Proteins (Proteins, Gene)FDA Link 05/2021 - 06/2003
12	TubulinIBA 01/2019 - 01/2007
10	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 12/2003
8	DystrophinIBA 04/2014 - 01/2004
4	Methyl-CpG-Binding Protein 2IBA 12/2015 - 12/2003
4	Carrier Proteins (Binding Protein)IBA 10/2007 - 01/2002
3	polyalanineIBA 01/2018 - 04/2009
3	Protein Isoforms (Isoforms)IBA 09/2012 - 04/2009
3	Cyclin-Dependent Kinases (cdk Proteins)IBA 02/2011 - 10/2008
3	Biological ProductsIBA 07/2008 - 06/2006
2	Monomeric GTP-Binding ProteinsIBA 09/2017 - 02/2010
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2016 - 02/2008
2	fasudil (AT 877)IBA 01/2016 - 01/2014
2	Interleukin-1 Receptor Accessory ProteinIBA 02/2015 - 01/2010
2	Messenger RNA (mRNA)IBA 12/2014 - 01/2004
2	OligonucleotidesIBA 09/2013 - 11/2009
2	Insulin-Like PeptidesIBA 08/2012 - 09/2008
2	rho GTP-Binding Proteins (rho GTP-Binding Protein)IBA 07/2009 - 06/2003
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 04/2022
1	Levodopa (L Dopa)FDA LinkGeneric 11/2020
1	Peptides (Polypeptides)IBA 01/2020
1	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 01/2020
1	Neuro-Oncological Ventral AntigenIBA 01/2020
1	Cholinergic ReceptorsIBA 01/2020
1	RNA Splicing FactorsIBA 01/2020
1	Member 2 Group A Nuclear Receptor Subfamily 4IBA 01/2020
1	poly(n-octyl methacrylate)IBA 01/2020
1	Nicotine FDA Link 01/2020
1	Cell Adhesion MoleculesIBA 11/2019
1	Sodium-Activated Potassium ChannelsIBA 01/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	Pharmaceutical PreparationsIBA 01/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2019
1	Creatine Kinase (Creatine Phosphokinase)IBA 12/2018
1	SolutionsIBA 10/2018
1	microtubule-associated protein 1B (MAP5)IBA 01/2018
1	Immunomodulating AgentsIBA 01/2018
1	CateninsIBA 01/2018
1	ElementsIBA 01/2018
1	Interferon Type IIBA 01/2018
1	Protein Kinases (Protein Kinase)IBA 11/2017
1	Ion Channels (Ion Channel)IBA 11/2017
1	Basic Amino Acid Transport SystemsIBA 12/2015
1	Cullin Proteins (Cullins)IBA 01/2015
1	Phosphotransferases (Kinase)IBA 01/2014
1	Valproic Acid (Depakote)FDA LinkGeneric 02/2013
1	ribosomal protein S7IBA 01/2013
1	Calcium-Transporting ATPases (Ca2+ ATPase)IBA 09/2012
1	sodium bisulfite FDA Link 08/2012
1	Connective Tissue Growth FactorIBA 06/2012