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Yvonne G Weber Selected Research

Cardiomyopathies (Cardiomyopathy)

7/2013Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

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Yvonne G Weber Research Topics

Disease

14Epilepsy (Aura)
10/2021 - 01/2005
6Epileptic Syndromes
12/2019 - 01/2005
6Idiopathic Generalized Epilepsy
08/2015 - 06/2006
5Generalized Epilepsy
01/2020 - 01/2005
4Seizures (Absence Seizure)
12/2019 - 10/2006
4Partial Epilepsies (Epilepsy, Partial)
12/2019 - 10/2014
4Absence Epilepsy (Childhood Absence Epilepsy)
08/2015 - 06/2006
3Brain Diseases (Brain Disorder)
01/2019 - 10/2014
2Febrile Seizures (Febrile Seizure)
12/2019 - 12/2014
2Microcephaly
08/2015 - 10/2014
2Dyskinesias (Dyskinesia)
10/2014 - 06/2008
2Myoclonic Epilepsies (Myoclonic Encephalopathy)
07/2013 - 03/2009
2Juvenile Myoclonic Epilepsy
10/2006 - 01/2005
1Neurologic Manifestations (Neurological Manifestations)
12/2019
1Intellectual Disability (Idiocy)
01/2019
1Angiomyolipoma
01/2018
1Tuberous Sclerosis (Bourneville's Disease)
01/2018
1Autistic Disorder (Autism)
09/2015
1Rolandic Epilepsy (Centrotemporal Epilepsy)
09/2015
1Autism Spectrum Disorder
08/2015
1Dystonia 18
08/2015
1Spastic Paraparesis
08/2015
1Fever (Fevers)
12/2014
1Nervous System Diseases (Neurological Disorders)
10/2014
1Glut1 Deficiency Syndrome
10/2014
1Complex Partial Epilepsy (Psychomotor Epilepsy)
10/2014
1Ataxia (Dyssynergia)
10/2014
1Deafness (Deaf Mutism)
07/2013
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
07/2013
1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
07/2013
1Cardiomyopathies (Cardiomyopathy)
07/2013
1Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
07/2013
1Familial paroxysmal dystonia
05/2013
1Hemolysis
06/2008
1Migraine Disorders (Migraine)
06/2008
1Hemolytic Anemia
06/2008

Drug/Important Bio-Agent (IBA)

6Immunoglobulin E (IgE)IBA
09/2015 - 01/2005
4Anticonvulsants (Antiepileptic Drugs)IBA
01/2020 - 09/2008
4Proteins (Proteins, Gene)FDA Link
12/2019 - 12/2014
2Biomarkers (Surrogate Marker)IBA
01/2020 - 04/2014
2Pharmaceutical PreparationsIBA
12/2019 - 11/2019
2Syntaxin 1IBA
12/2019 - 12/2014
2Glucose (Dextrose)FDA LinkGeneric
12/2018 - 06/2008
2Glucose Transporter Type 1IBA
08/2015 - 10/2014
2Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
08/2015 - 09/2009
2Ligand-Gated Ion ChannelsIBA
09/2008 - 01/2005
1LacosamideFDA Link
09/2019
1ClathrinIBA
01/2019
1trans-sodium crocetinate (crocetin)IBA
01/2018
1NAV1.1 Voltage-Gated Sodium ChannelIBA
01/2016
1Valproic Acid (Depakote)FDA LinkGeneric
08/2015
1ras ProteinsIBA
08/2015
1Levetiracetam (Keppra)FDA LinkGeneric
08/2015
1Kv1.2 Potassium ChannelIBA
04/2015
1Ile Transfer RNAIBA
07/2013
1Lys Transfer RNAIBA
07/2013
1Phe Transfer RNAIBA
07/2013
1Mitochondrial DNA (mtDNA)IBA
07/2013
1human PRRT2 proteinIBA
05/2013
1Chloride Channels (Chloride Channel)IBA
03/2009
1ezogabine (retigabine)IBA
09/2008
1KCNQ Potassium ChannelsIBA
09/2008
1ElectrolytesIBA
06/2008
1CationsIBA
06/2008
1GABA-A Receptors (GABA(A) Receptor)IBA
06/2006
1Ion Channels (Ion Channel)IBA
01/2005

Therapy/Procedure

3Ketogenic Diet
08/2015 - 09/2009
1Precision Medicine
10/2021
1Deep Brain Stimulation
01/2020
1Therapeutics
04/2014
1Drug Therapy (Chemotherapy)
09/2008