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Federico Zara Selected Research

5 Hypomyelinating Leukodystrophy

1/2012Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
9/2011Hypomyelination and congenital cataract: broadening the clinical phenotype.
8/2007Phenotypic characterization of hypomyelination and congenital cataract.
10/2006Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

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Federico Zara Research Topics

Disease

48Epilepsy (Aura)
05/2022 - 02/2004
35Seizures (Absence Seizure)
01/2022 - 02/2004
13Brain Diseases (Brain Disorder)
12/2021 - 07/2009
12Myoclonic Epilepsies (Myoclonic Encephalopathy)
08/2014 - 05/2002
11Intellectual Disability (Idiocy)
05/2022 - 06/2007
9Generalized Epilepsy
01/2020 - 01/2003
7Epileptic Syndromes
10/2017 - 03/2006
7Myoclonus (Nocturnal Myoclonus)
09/2016 - 08/2007
6Neurodevelopmental Disorders
08/2022 - 05/2017
5Neoplasms (Cancer)
06/2022 - 01/2020
5Partial Epilepsies (Epilepsy, Partial)
01/2022 - 05/2011
5Idiopathic Generalized Epilepsy
08/2011 - 08/2002
4Neuroblastoma
04/2022 - 04/2021
4Juvenile Myoclonic Epilepsy
09/2019 - 01/2003
4Migraine Disorders (Migraine)
01/2019 - 09/2008
4Dyskinesias (Dyskinesia)
01/2019 - 01/2013
4Cognitive Dysfunction
09/2016 - 02/2008
4Tremor (Tremors)
10/2013 - 06/2006
45 Hypomyelinating Leukodystrophy
01/2012 - 10/2006
4Muscular Dystrophies (Muscular Dystrophy)
04/2010 - 01/2006
3Febrile Seizures (Febrile Seizure)
04/2021 - 05/2002
3Nervous System Diseases (Neurological Disorders)
11/2018 - 10/2016
3Absence Epilepsy (Childhood Absence Epilepsy)
11/2017 - 10/2006
3Temporal Lobe Epilepsy
10/2017 - 08/2011
3Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2016 - 02/2006
2Infantile Epileptic-Dyskinetic Encephalopathy
08/2022 - 04/2017
2Cystic Fibrosis (Mucoviscidosis)
03/2022 - 05/2021
2Muscle Hypotonia (Hypotonia)
01/2022 - 01/2019
2Drug-Related Side Effects and Adverse Reactions
01/2022 - 01/2018
2Drug Resistant Epilepsy
01/2020 - 12/2019
2Familial paroxysmal dystonia
01/2018 - 05/2013
2Hypersensitivity (Allergy)
01/2018 - 06/2011
2Hippocampal Sclerosis
10/2017 - 10/2013
2Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
09/2016 - 08/2014
2Status Epilepticus (Complex Partial Status Epilepticus)
07/2009 - 10/2007
2Channelopathies
07/2009 - 04/2004
2Generalized Epilepsy with Febrile Seizures Plus
07/2009 - 05/2002
2Migraine with Aura (Familial Hemiplegic Migraine)
09/2008 - 11/2005
2Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
03/2008 - 11/2007
2Benign Neonatal Epilepsy (Benign Familial Neonatal Convulsions)
01/2006 - 04/2004
1Rett Syndrome (Rett's Disorder)
08/2022
1Neuroectodermal Tumors (Neuroectodermal Tumor)
04/2022
1Melanoma (Melanoma, Malignant)
04/2022
1Infantile Spasms (West Syndrome)
01/2022
1Pathologic Complete Response
11/2021
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
01/2021
1Inborn Genetic Diseases (Disease, Hereditary)
09/2020
1Type 2 Episodic Ataxia
09/2020

Drug/Important Bio-Agent (IBA)

17Proteins (Proteins, Gene)FDA Link
01/2022 - 05/2009
15Pharmaceutical PreparationsIBA
05/2022 - 02/2008
12Anticonvulsants (Antiepileptic Drugs)IBA
01/2020 - 06/2007
10Immunoglobulin E (IgE)IBA
02/2019 - 08/2002
7Sodium Channels (Sodium Channel)IBA
04/2021 - 04/2004
6SodiumIBA
12/2021 - 04/2004
5Levetiracetam (Keppra)FDA LinkGeneric
01/2022 - 06/2006
5human PRRT2 proteinIBA
01/2019 - 12/2012
5Ion Channels (Ion Channel)IBA
11/2017 - 03/2012
5Voltage-Gated Sodium ChannelsIBA
05/2017 - 05/2002
4DNA (Deoxyribonucleic Acid)IBA
06/2022 - 11/2013
4Pyridoxine (Pyridoxin)FDA LinkGeneric
12/2017 - 11/2011
3Chloride Channels (Chloride Channel)IBA
03/2022 - 01/2012
3Sodium Channel BlockersIBA
01/2022 - 04/2017
3Biological ProductsIBA
05/2021 - 05/2009
3Valproic Acid (Depakote)FDA LinkGeneric
09/2019 - 10/2015
3Carbamazepine (Tegretol)FDA LinkGeneric
03/2019 - 06/2011
3Creatine Kinase (Creatine Phosphokinase)IBA
06/2018 - 11/2007
3Membrane Proteins (Integral Membrane Proteins)IBA
09/2011 - 10/2006
3Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA
08/2011 - 01/2008
3DystrophinIBA
04/2010 - 01/2006
2gamma-Aminobutyric Acid (GABA)IBA
08/2022 - 01/2021
2UbiquitinIBA
04/2022 - 01/2016
2Phenobarbital (Luminal)FDA Link
01/2022 - 01/2016
2Potassium Channels (Potassium Channel)IBA
12/2021 - 09/2015
2Phenytoin (Dilantin)FDA LinkGeneric
01/2018 - 01/2016
2CeramidesIBA
09/2016 - 08/2014
2Carrier Proteins (Binding Protein)IBA
01/2016 - 10/2015
2Proteasome Endopeptidase Complex (Proteasome)IBA
01/2016 - 04/2010
2PotassiumIBA
01/2012 - 01/2007
2AntibodiesIBA
08/2011 - 01/2008
2Dystroglycans (Dystroglycan)IBA
11/2007 - 02/2006
1Therapeutic UsesIBA
04/2022
1Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
04/2022
1Glutamine (L-Glutamine)FDA Link
04/2022
1Adenosine Triphosphate (ATP)IBA
04/2022
1elexacaftorIBA
03/2022
1ivacaftor drug combination tezacaftorIBA
03/2022
1RNA Splicing FactorsIBA
01/2022
1Tetrodotoxin (Tetradotoxin)IBA
01/2022
1Adrenocorticotropic Hormone (ACTH)FDA Link
01/2022
1NADP (NADPH)IBA
12/2021
1Phenylalanine (L-Phenylalanine)FDA Link
05/2021
1Protein Isoforms (Isoforms)IBA
01/2021
1Hypoglycemic Agents (Hypoglycemics)IBA
01/2021
1Antisense OligonucleotidesIBA
09/2020
1Nonsense Codon (Nonsense Mutation)IBA
01/2020

Therapy/Procedure

7Therapeutics
09/2020 - 11/2013
3Precision Medicine
10/2021 - 01/2016
2Ketogenic Diet
01/2022 - 07/2013
2Activities of Daily Living (ADL)
06/2006 - 03/2006
1Cell- and Tissue-Based Therapy (Cell Therapy)
01/2020