Sabina Barresi Selected Research

Pontocerebellar Hypoplasia Type 1

11/2013

Exome 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

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

Drug/Important Bio-Agent (IBA)

3	Protein Isoforms (Isoforms)IBA 11/2021 - 09/2012
3	TubulinIBA 01/2018 - 07/2013
2	Proteins (Proteins, Gene)FDA Link 12/2015 - 11/2013
1	Ophthalmic Solutions (Eye Drops)IBA 11/2021
1	Laminin (Merosin)IBA 11/2021
1	A 17 (A-17)IBA 01/2021
1	Interleukin-15 (Interleukin 15)IBA 01/2021
1	Interleukin-7 (Interleukin 7)IBA 01/2021
1	CytokinesIBA 01/2021
1	Growth Hormone (Somatotropin)IBA 12/2020
1	Histones (Histone)IBA 12/2020
1	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020
1	Biogenic Amines (Biogenic Amine)IBA 01/2019
1	Nuclear Proteins (Protein, Nuclear)IBA 01/2019
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2019
1	ClathrinIBA 01/2019
1	PotassiumIBA 10/2018
1	prexasertibIBA 01/2018
1	KinesinsIBA 01/2018
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2018
1	voltage-dependent calcium channel (P-Q type)IBA 05/2017
1	rho-Associated KinasesIBA 07/2016
1	Ribosomal Proteins (Ribosomal Protein)IBA 12/2015
1	Calcium-Transporting ATPases (Ca2+ ATPase)IBA 09/2012
1	coenzyme Q10 (CoQ10)IBA 05/2012
1	ubiquinone 8IBA 05/2012
1	Nonsense Codon (Nonsense Mutation)IBA 05/2012

Therapy/Procedure

1	Drug Therapy (Chemotherapy) 01/2021
1	Therapeutics 01/2018