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Grazia M S Mancini Selected Research

Hyperplasia

1/2019A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.

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Grazia M S Mancini Research Topics

Disease

10Neurodevelopmental Disorders
10/2023 - 05/2015
7Intellectual Disability (Idiocy)
10/2023 - 01/2012
7Microcephaly
01/2023 - 05/2015
3Muscle Hypotonia (Hypotonia)
10/2021 - 05/2015
3Neoplasms (Cancer)
12/2020 - 04/2009
3Polymicrogyria
12/2019 - 07/2005
2Epilepsy (Aura)
07/2023 - 12/2017
2Neurologic Manifestations (Neurological Manifestations)
10/2021 - 12/2020
2Brain Diseases (Brain Disorder)
01/2021 - 12/2019
2Optic Atrophy
01/2021 - 05/2012
2Cerebellar Ataxia (Dysmetria)
01/2021 - 01/2017
2Lissencephaly
10/2019 - 12/2018
2Hydrocephalus (Hydrocephaly)
01/2019 - 05/2012
2Autistic Disorder (Autism)
01/2019 - 06/2017
2Scoliosis
12/2018 - 10/2017
2Leukoencephalopathies
01/2017 - 08/2012
2Periventricular Nodular Heterotopia
01/2016 - 09/2013
2Loeys-Dietz Syndrome
06/2013 - 04/2006
2X-Linked Mental Retardation (Mental Retardation, X Linked)
06/2012 - 07/2008
1Astrocytoma (Pilocytic Astrocytoma)
10/2023
1Autism Spectrum Disorder
07/2023
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2023
1Malformations of Cortical Development
11/2021
1Mitochondrial Diseases (Mitochondrial Disease)
10/2021
1Atrophy
10/2021
1Seizures (Absence Seizure)
10/2021
1Migraine with Aura (Familial Hemiplegic Migraine)
01/2021
1Dystonia 12
01/2021
1Alternating hemiplegia of childhood
01/2021
1Neurodegenerative Diseases (Neurodegenerative Disease)
12/2020
1Carcinogenesis
12/2020
1Goldberg-Shprintzen megacolon syndrome
11/2020
1Chromosomal Instability (Chromosome Stability)
01/2020
1Nervous System Diseases (Neurological Disorders)
12/2019
1Generalized Epilepsy and Paroxysmal Dyskinesia
01/2019
1Hyperplasia
01/2019
1Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)
01/2018
1Channelopathies
01/2018
1Ehlers-Danlos syndrome type 6
10/2017
1Molybdenum cofactor deficiency
06/2017
1Ataxia (Dyssynergia)
01/2017
1Cardiomyopathies (Cardiomyopathy)
01/2016
1Movement Disorders (Movement Disorder)
01/2016
1Language Development Disorders (Semantic-Pragmatic Disorder)
05/2015
1Body Weight (Weight, Body)
05/2015
1Hypoglycemia (Reactive Hypoglycemia)
03/2015
1Infantile Spasms (West Syndrome)
03/2015

Drug/Important Bio-Agent (IBA)

9Proteins (Proteins, Gene)FDA Link
01/2023 - 07/2005
3DNA (Deoxyribonucleic Acid)IBA
01/2020 - 01/2008
2Glucose (Dextrose)FDA LinkGeneric
10/2023 - 03/2015
2RNA (Ribonucleic Acid)IBA
01/2023 - 01/2021
2Histones (Histone)IBA
12/2020 - 01/2019
2N-acetyltryptophanamide (NATA)IBA
01/2018 - 01/2016
2Nonsense Codon (Nonsense Mutation)IBA
01/2016 - 07/2005
2creatine transporterIBA
01/2012 - 07/2008
1GlycogenIBA
10/2023
1Protein Phosphatase 1IBA
10/2023
1ZincIBA
07/2023
1OligonucleotidesIBA
07/2023
1Insulin (Novolin)FDA Link
01/2023
1TubulinIBA
11/2021
1Immunoglobulin D (IgD)IBA
10/2021
1Protein Isoforms (Isoforms)IBA
01/2021
1Adenosine Triphosphatases (ATPase)IBA
01/2021
1KinesinsIBA
11/2020
1Carrier Proteins (Binding Protein)IBA
11/2020
1ThioredoxinsIBA
12/2019
1Protein Disulfide-IsomerasesIBA
12/2019
1Platelet Activating FactorIBA
10/2019
1adenomatous polyposis coli protein 2IBA
10/2019
1Cytoskeletal ProteinsIBA
10/2019
1SphingolipidsIBA
10/2019
1CateninsIBA
10/2019
1Lysine (L-Lysine)FDA Link
01/2019
1RNA-Binding Proteins (RNA-Binding Protein)IBA
01/2019
1Potassium Channels (Potassium Channel)IBA
01/2019
1cysteinyl-tRNA synthetaseIBA
01/2019
1SpectrinIBA
12/2018
1Voltage-Gated Sodium ChannelsIBA
01/2018
1Ion Channels (Ion Channel)IBA
01/2018
1Protein AggregatesIBA
01/2018
1R-SNARE Proteins (Vesicle-Associated Membrane Protein)IBA
12/2017
1SynaptophysinIBA
12/2017
12-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA
10/2017
1SulfitesIBA
06/2017
1Sulfite OxidaseIBA
06/2017
1N-Acetylneuraminic Acid (Sialic Acid)IBA
01/2017
1Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA
01/2017
1Adenosine Diphosphate Ribose (ADP-Ribose)IBA
01/2017
1Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA
01/2016
1N-Terminal AcetyltransferasesIBA
01/2016
1ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA
01/2016
1Adaptor Protein Complex 4IBA
05/2015
1AdipokinesIBA
05/2015
1Adrenocorticotropic Hormone (ACTH)FDA Link
03/2015
1Anticonvulsants (Antiepileptic Drugs)IBA
03/2015
1FilaminsIBA
09/2013
1Fibrillin-1IBA
06/2013

Therapy/Procedure

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