Sara Seneca Selected Research

Huntington Disease (Huntington's Disease)

5/2013

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

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Sara Seneca Research Topics

Disease

4	Myotonic Dystrophy (Dystrophia Myotonica) 01/2018 - 08/2004
3	Lactic Acidosis 01/2018 - 04/2006
3	Muscular Diseases (Myopathy) 01/2018 - 04/2006
3	Liver Failure 01/2014 - 09/2009
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2014 - 01/2004
2	Optic Nerve Diseases (Optic Neuropathy) 01/2021 - 04/2006
2	Genetic Predisposition to Disease (Genetic Predisposition) 03/2019 - 07/2015
2	Ovarian Hyperstimulation Syndrome 03/2019 - 07/2015
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 05/2018 - 08/2005
1	Birth Weight (Birth Weights) 02/2024
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2019
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2019
1	Chromosome Aberrations (Chromosome Abnormalities) 10/2018
1	Fatigue 05/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Trichothiodystrophy Syndromes 04/2016
1	Muscular Dystrophies (Muscular Dystrophy) 03/2016
1	Polyneuropathies (Polyneuropathy) 02/2016
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2016
1	Ascites 07/2015
1	Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal) 07/2015
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 07/2014
1	Cytochrome-c Oxidase Deficiency 07/2014
1	Pancytopenia 01/2014
1	Cytopenia 01/2014
1	Gaucher Disease (Gaucher's Disease) 01/2014
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 11/2013
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 11/2013
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 11/2013
1	Nephrotic Syndrome (Syndrome, Nephrotic) 11/2013
1	Huntington Disease (Huntington's Disease) 05/2013
1	Hypoglycemia (Reactive Hypoglycemia) 09/2012
1	Disease Progression 09/2012
1	Hepatic Insufficiency 09/2012
1	Fibrosis (Cirrhosis) 09/2012
1	Muscle Hypotonia (Hypotonia) 01/2011
1	Finnish lethal neonatal metabolic syndrome 08/2010
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2009
1	Ataxia (Dyssynergia) 11/2009
1	Leigh Disease (Leigh's Disease) 11/2009
1	Acidosis 09/2009
1	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 06/2009
1	Hydrops Fetalis (Fetal Edema) 01/2007
1	Brain Diseases (Brain Disorder) 04/2006
1	Renal Insufficiency (Renal Failure) 04/2006
1	Citrullinemia 07/2003

Drug/Important Bio-Agent (IBA)

12	Mitochondrial DNA (mtDNA)IBA 02/2024 - 01/2004
4	EnzymesIBA 01/2019 - 07/2003
2	Gonadotropin-Releasing Hormone (GnRH)FDA Link 03/2019 - 07/2015
2	Protein Kinases (Protein Kinase)IBA 02/2016 - 08/2004
2	Proteins (Proteins, Gene)FDA Link 01/2014 - 05/2013
2	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 08/2010 - 09/2009
2	Prostaglandins DIBA 06/2010 - 11/2009
1	Lysergic Acid Diethylamide (LSD)IBA 01/2019
1	Oxygen (Dioxygen)IBA 05/2018
1	Myotonin-Protein KinaseIBA 01/2018
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2018
1	Transcription Factors (Transcription Factor)IBA 04/2016
1	transcription factor TFIIE (TFIIE)IBA 04/2016
1	Choline KinaseIBA 03/2016
1	Protein Isoforms (Isoforms)IBA 02/2016
1	Lysine (L-Lysine)FDA Link 02/2016
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2016
1	Cabergoline FDA LinkGeneric 07/2015
1	AlbuminsIBA 07/2015
1	Oxidoreductases (Dehydrogenase)IBA 01/2015
1	glycine cleavage systemIBA 01/2015
1	Thioctic Acid (Lipoic Acid)IBA 01/2015
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 07/2014
1	TransferasesIBA 11/2013
1	Lactic Acid (Lactate)FDA LinkGeneric 11/2013
1	coenzyme Q10 (CoQ10)IBA 11/2013
1	polyglutamineIBA 05/2013
1	Glucagon (Glukagon)FDA Link 09/2012
1	Glucose (Dextrose)FDA LinkGeneric 09/2012
1	Triglycerides (Triacylglycerol)IBA 09/2012
1	DNA (Deoxyribonucleic Acid)IBA 01/2011
1	SulfurIBA 08/2010
1	IronIBA 08/2010
1	Oligoclonal BandsIBA 11/2009
1	OligonucleotidesIBA 01/2008
1	Glu Transfer RNAIBA 01/2007
1	Linezolid (Zyvox)FDA Link 04/2006
1	Aspartic Acid (Aspartate)FDA Link 08/2005
1	Transfer RNA (tRNA)IBA 08/2005
1	3' Untranslated Regions (3' UTR)IBA 08/2004
1	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 07/2003
1	Urea (Carbamide)FDA LinkGeneric 07/2003

Therapy/Procedure

1	Splenectomy 01/2014
1	Transplantation 01/2014