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Sabina Barresi Selected Research

Atrophy

11/2013Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

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Sabina Barresi Research Topics

Disease

5Neoplasms (Cancer)
04/2024 - 12/2020
4Ataxia (Dyssynergia)
09/2022 - 05/2012
4Intellectual Disability (Idiocy)
01/2019 - 11/2013
3Neurodegenerative Diseases (Neurodegenerative Disease)
09/2022 - 10/2016
2Glioblastoma (Glioblastoma Multiforme)
02/2024 - 01/2021
2Neurodevelopmental Disorders
01/2019 - 12/2015
1Neurofibroma
01/2024
1Sarcoma (Soft Tissue Sarcoma)
01/2024
1Neurofibrosarcoma (MPNST)
01/2024
1Neoplasm Metastasis (Metastasis)
11/2023
1Synovial Sarcoma (Synovioma)
07/2023
1Reinfection
01/2023
1Infections
01/2023
1Common Variable Immunodeficiency
01/2023
1Glioma (Gliomas)
12/2022
1Junctional Epidermolysis Bullosa (Epidermolysis Bullosa Letalis)
11/2021
1Hodgkin Disease (Hodgkin's Disease)
01/2021
1Lymphoma (Lymphomas)
01/2021
1Non-Hodgkin Lymphoma (Lymphosarcoma)
01/2021
1Brain Neoplasms (Brain Tumor)
01/2021
1Carcinogenesis
12/2020
1Coloboma (Colobomas)
12/2020
1Agenesis of Cerebellar Vermis
12/2020
1Neurologic Manifestations (Neurological Manifestations)
12/2020
1Hypogonadism (Hypergonadotropic Hypogonadism)
12/2020
1Brain Diseases (Brain Disorder)
01/2020
1Parkinsonian Disorders (Parkinsonism)
01/2019
1Movement Disorders (Movement Disorder)
01/2019
1Cardiac Arrhythmias (Arrythmia)
10/2018
1Spastic Ataxia
01/2018
1Ataxia Telangiectasia (Louis Bar Syndrome)
01/2018
1Paraplegia (Spastic Paraplegia)
01/2018
1Polyneuropathies (Polyneuropathy)
01/2018
1Colorectal Neoplasms (Colorectal Cancer)
01/2018
1Nervous System Diseases (Neurological Disorders)
05/2017
1Migraine Disorders (Migraine)
05/2017
1Hypoparathyroidism
10/2016
1Type 1 Kenny-Caffey syndrome
10/2016
1Hereditary Spastic Paraplegia
11/2013
1Atrophy
11/2013
1Pontocerebellar Hypoplasia Type 1
11/2013
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
11/2013
1Agenesis of Corpus Callosum
07/2013
1Cerebellar Ataxia (Dysmetria)
09/2012
1Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
05/2012
1Seizures (Absence Seizure)
05/2012

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
04/2024 - 11/2013
3Protein Isoforms (Isoforms)IBA
11/2021 - 09/2012
3TubulinIBA
01/2018 - 07/2013
1Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA
02/2024
1A-Form DNA (A-DNA)IBA
01/2024
1Atrial Natriuretic Factor (ANF)IBA
01/2024
1VaccinesIBA
01/2023
1Immunoglobulins (Immunoglobulin)IBA
01/2023
1ElementsIBA
12/2022
1RNA (Ribonucleic Acid)IBA
09/2022
1Laminin (Merosin)IBA
11/2021
1Ophthalmic Solutions (Eye Drops)IBA
11/2021
1Interleukin-15 (Interleukin 15)IBA
01/2021
1Interleukin-7 (Interleukin 7)IBA
01/2021
1CytokinesIBA
01/2021
1A 17 (A-17)IBA
01/2021
1Histones (Histone)IBA
12/2020
1Growth Hormone (Somatotropin)IBA
12/2020
1Uridine Diphosphate Glucose (UDP Glucose)IBA
01/2020
1Nuclear Proteins (Protein, Nuclear)IBA
01/2019
1ClathrinIBA
01/2019
1Neurotransmitter Agents (Neurotransmitter)IBA
01/2019
1Biogenic Amines (Biogenic Amine)IBA
01/2019
1PotassiumIBA
10/2018
1prexasertibIBA
01/2018
1KinesinsIBA
01/2018
1Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA
01/2018
1voltage-dependent calcium channel (P-Q type)IBA
05/2017
1rho-Associated KinasesIBA
07/2016
1Ribosomal Proteins (Ribosomal Protein)IBA
12/2015
1Calcium-Transporting ATPases (Ca2+ ATPase)IBA
09/2012
1coenzyme Q10 (CoQ10)IBA
05/2012
1ubiquinone 8IBA
05/2012
1Nonsense Codon (Nonsense Mutation)IBA
05/2012

Therapy/Procedure

2Therapeutics
11/2023 - 01/2018
2Drug Therapy (Chemotherapy)
07/2023 - 01/2021
1Radiotherapy
07/2023