Aida Bertoli-Avella Selected Research

Sphingolipids

10/2019

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

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Aida Bertoli-Avella Research Topics

Disease

2	Brain Diseases (Brain Disorder) 11/2023 - 12/2019
2	Neurodevelopmental Disorders 01/2023 - 01/2023
2	Microcephaly 12/2019 - 10/2019
1	Muscular Dystrophies (Muscular Dystrophy) 02/2024
1	Aneuploidy (Aneuploid) 11/2023
1	Encephalitis (Encephalitis, Rasmussen) 10/2023
1	Ichthyosis (Xeroderma) 10/2023
1	Angelman Syndrome (Syndrome, Angelman) 01/2023
1	Rare Diseases (Rare Disease) 01/2023
1	Pelger-Huet Anomaly 10/2022
1	Seizures (Absence Seizure) 01/2021
1	Leukoencephalopathies 01/2021
1	Nervous System Diseases (Neurological Disorders) 12/2019
1	Polymicrogyria 12/2019

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 11/2023 - 12/2019
1	RNA (Ribonucleic Acid)IBA 02/2024
1	Blood Glucose (Blood Sugar)IBA 11/2023
1	Messenger RNA (mRNA)IBA 11/2023
1	Collodion (Nitrocellulose)IBA 10/2023
1	EnzymesIBA 10/2023
1	Ligases (Synthetase)IBA 01/2023
1	GTP Phosphohydrolases (GTPases)IBA 01/2023
1	UbiquitinIBA 01/2023
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2023
1	ChromatinIBA 10/2022
1	DNA (Deoxyribonucleic Acid)IBA 01/2021
1	ThioredoxinsIBA 12/2019
1	Protein Disulfide-IsomerasesIBA 12/2019
1	SphingolipidsIBA 10/2019