Grazia M S Mancini Selected Research

Polymicrogyria

12/2019	TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
1/2019	Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
7/2005	Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

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Grazia M S Mancini Research Topics

Disease

6	Neurodevelopmental Disorders 01/2022 - 05/2015
6	Intellectual Disability (Idiocy) 10/2021 - 01/2012
6	Microcephaly 12/2019 - 05/2015
3	Muscle Hypotonia (Hypotonia) 10/2021 - 05/2015
3	Neoplasms (Cancer) 12/2020 - 04/2009
3	Polymicrogyria 12/2019 - 07/2005
2	Seizures (Absence Seizure) 10/2021 - 12/2019
2	Neurologic Manifestations (Neurological Manifestations) 10/2021 - 12/2020
2	Brain Diseases (Brain Disorder) 01/2021 - 12/2019
2	Cerebellar Ataxia (Dysmetria) 01/2021 - 01/2017
2	Optic Atrophy 01/2021 - 05/2012
2	Lissencephaly 10/2019 - 12/2018
2	Autistic Disorder (Autism) 01/2019 - 06/2017
2	Hydrocephalus (Hydrocephaly) 01/2019 - 05/2012
2	Scoliosis 12/2018 - 10/2017
2	Leukoencephalopathies 01/2017 - 08/2012
2	Periventricular Nodular Heterotopia 01/2016 - 09/2013
2	Loeys-Dietz Syndrome 06/2013 - 04/2006
2	X-Linked Mental Retardation (Mental Retardation, X Linked) 06/2012 - 07/2008
1	Malformations of Cortical Development 11/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2021
1	Atrophy 10/2021
1	Alternating hemiplegia of childhood 01/2021
1	Dystonia 12 01/2021
1	Migraine with Aura (Familial Hemiplegic Migraine) 01/2021
1	Carcinogenesis 12/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020
1	Goldberg-Shprintzen megacolon syndrome 11/2020
1	Chromosomal Instability (Chromosome Stability) 01/2020
1	Nervous System Diseases (Neurological Disorders) 12/2019
1	Vision Disorders (Hemeralopia) 12/2019
1	Generalized Epilepsy and Paroxysmal Dyskinesia 01/2019
1	Hyperplasia 01/2019
1	Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile) 01/2018
1	Channelopathies 01/2018
1	Epilepsy (Aura) 12/2017
1	Ehlers-Danlos syndrome type 6 10/2017
1	Molybdenum cofactor deficiency 06/2017
1	Ataxia (Dyssynergia) 01/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2016
1	Movement Disorders (Movement Disorder) 01/2016
1	Language Development Disorders (Semantic-Pragmatic Disorder) 05/2015
1	Body Weight (Weight, Body) 05/2015
1	Hypoglycemia (Reactive Hypoglycemia) 03/2015
1	Infantile Spasms (West Syndrome) 03/2015
1	Marfan Syndrome (Marfan's Syndrome) 06/2013
1	Thoracic Aortic Aneurysm 06/2013
1	Polyneuropathies (Polyneuropathy) 02/2013
1	Porencephaly 08/2012

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2005
3	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 01/2008
2	Histones (Histone)IBA 12/2020 - 01/2019
2	N-acetyltryptophanamide (NATA)IBA 01/2018 - 01/2016
2	Nonsense Codon (Nonsense Mutation)IBA 01/2016 - 07/2005
2	creatine transporterIBA 01/2012 - 07/2008
1	TubulinIBA 11/2021
1	Immunoglobulin D (IgD)IBA 10/2021
1	RNA (Ribonucleic Acid)IBA 01/2021
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	Protein Isoforms (Isoforms)IBA 01/2021
1	Carrier Proteins (Binding Protein)IBA 11/2020
1	KinesinsIBA 11/2020
1	Protein Disulfide-IsomerasesIBA 12/2019
1	ThioredoxinsIBA 12/2019
1	Pharmaceutical PreparationsIBA 12/2019
1	Platelet Activating FactorIBA 10/2019
1	Cytoskeletal ProteinsIBA 10/2019
1	SphingolipidsIBA 10/2019
1	CateninsIBA 10/2019
1	adenomatous polyposis coli protein 2IBA 10/2019
1	cysteinyl-tRNA synthetaseIBA 01/2019
1	Potassium Channels (Potassium Channel)IBA 01/2019
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2019
1	Lysine (L-Lysine)FDA Link 01/2019
1	SpectrinIBA 12/2018
1	Protein AggregatesIBA 01/2018
1	Ion Channels (Ion Channel)IBA 01/2018
1	Voltage-Gated Sodium ChannelsIBA 01/2018
1	R-SNARE Proteins (Vesicle-Associated Membrane Protein)IBA 12/2017
1	SynaptophysinIBA 12/2017
1	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 10/2017
1	Sulfite OxidaseIBA 06/2017
1	SulfitesIBA 06/2017
1	Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA 01/2017
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2017
1	Adenosine Diphosphate Ribose (ADP-Ribose)IBA 01/2017
1	N-Terminal AcetyltransferasesIBA 01/2016
1	ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA 01/2016
1	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 01/2016
1	AdipokinesIBA 05/2015
1	Adaptor Protein Complex 4IBA 05/2015
1	Anticonvulsants (Antiepileptic Drugs)IBA 03/2015
1	Glucose (Dextrose)FDA LinkGeneric 03/2015
1	Adrenocorticotropic Hormone (ACTH)FDA Link 03/2015
1	FilaminsIBA 09/2013
1	Fibrillin-1IBA 06/2013
1	1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)IBA 06/2013
1	Collagen Type IV (Type IV Collagen)IBA 08/2012

Therapy/Procedure

1	Surgical Instruments (Clip) 01/2019
1	Ketogenic Diet 03/2015