Gerarda Cappuccio Selected Research

Muscle Hypotonia (Hypotonia)

1/2019

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

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Gerarda Cappuccio Research Topics

Disease

7	Neurodevelopmental Disorders 01/2022 - 01/2019
3	Intellectual Disability (Idiocy) 01/2022 - 01/2014
2	Dystonia (Limb Dystonia) 01/2022 - 01/2013
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2022 - 01/2021
2	Microcephaly 01/2022 - 10/2019
2	Thyrotoxicosis 01/2022 - 01/2020
2	Rett Syndrome (Rett's Disorder) 10/2019 - 06/2019
1	Genomic Instability 01/2022
1	Cerebellar Ataxia (Dysmetria) 01/2022
1	Migraine Disorders (Migraine) 01/2022
1	Congenital Heart Defects (Congenital Heart Defect) 01/2021
1	Floating-harbor syndrome 01/2021
1	Growth mental deficiency syndrome of Myhre 01/2021
1	Megalencephaly 01/2021
1	Nervous System Diseases (Neurological Disorders) 10/2020
1	Learning Disabilities (Learning Disability) 09/2020
1	Cognitive Dysfunction 09/2020
1	Hypothyroidism 01/2020
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 01/2020
1	Sialorrhea 06/2019
1	Bruxism 06/2019
1	Muscle Hypotonia (Hypotonia) 01/2019
1	Mental Disorders (Mental Disorder) 01/2019
1	Osteoporosis 10/2017
1	Cataract (Cataracts) 10/2017
1	Hearing Loss (Hearing Impairment) 10/2017
1	Syringomyelia (Morvan's Disease) 10/2017
1	Propionic Acidemia 01/2017
1	Glut1 Deficiency Syndrome 01/2017
1	Movement Disorders (Movement Disorder) 01/2017
1	Neurologic Manifestations (Neurological Manifestations) 01/2017
1	Epilepsy (Aura) 01/2017
1	Kabuki syndrome 01/2014
1	Neoplasms (Cancer) 01/2014
1	Breast Neoplasms (Breast Cancer) 01/2014
1	Obesity 01/2014
1	Type 2 Diabetes Mellitus (MODY) 01/2014
1	Autism Spectrum Disorder 01/2014
1	Pain (Aches) 01/2013
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2013

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2019
2	Thyroid HormonesIBA 01/2022 - 01/2020
2	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 01/2019
2	SphingolipidsIBA 10/2019 - 10/2019
2	AcidsIBA 01/2017 - 01/2013
1	Heterogeneous-Nuclear Ribonucleoprotein UIBA 01/2022
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2022
1	GTP-Binding Proteins (G-Protein)IBA 01/2022
1	Adenosine Triphosphatases (ATPase)IBA 01/2022
1	Losartan (Cozaar)FDA LinkGeneric 01/2021
1	P-2 (P 2)IBA 01/2021
1	RNA (Ribonucleic Acid)IBA 01/2021
1	Adenosine Triphosphate (ATP)IBA 10/2020
1	KinesinsIBA 10/2020
1	Retinaldehyde (Retinal)IBA 09/2020
1	EnzymesIBA 01/2020
1	SulfatasesIBA 01/2020
1	N-formylglycineIBA 01/2020
1	Methyl-CpG-Binding Protein 2IBA 10/2019
1	Botulinum Toxins (Botulinum Toxin)IBA 06/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2019
1	Growth Hormone (Somatotropin)IBA 10/2017
1	hydracrylic acidIBA 01/2017
1	2-methylcitric acidIBA 01/2017
1	propionylcarnitineIBA 01/2017
1	Glucose Transporter Type 1IBA 01/2017
1	6-propylchromone-2-carboxylic acid (PCCA)IBA 01/2017
1	Histones (Histone)IBA 01/2014
1	DNA HelicasesIBA 01/2014
1	Carrier Proteins (Binding Protein)IBA 01/2014
1	Matrix Metalloproteinases (MMPs)IBA 01/2014
1	human PMS2 proteinIBA 01/2014
1	AntiemeticsIBA 01/2013
1	Lysergic Acid Diethylamide (LSD)IBA 01/2013
1	Tricyclic Antidepressive Agents (Tricyclic Antidepressants)IBA 01/2013
1	Amitriptyline (Elavil)FDA LinkGeneric 01/2013
1	Antipsychotic Agents (Antipsychotics)IBA 01/2013

Therapy/Procedure

1	Therapeutics 06/2019
1	Segmental Mastectomy (Lumpectomy) 01/2014