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Graziella Uziel Selected Research
Graziella Uziel Research Topics
Disease
6
Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
11/2014 - 01/2003
3
Leukoencephalopathies
09/2014 - 04/2007
3
Mitochondrial Diseases (Mitochondrial Disease)
09/2014 - 05/2009
2
Disease Progression
02/2015 - 12/2010
2
Cytochrome-c Oxidase Deficiency
09/2014 - 08/2002
2
MELAS Syndrome (Syndrome, MELAS)
03/2014 - 05/2009
2
Mitochondrial encephalopathy
03/2014 - 05/2007
2
Ataxia (Dyssynergia)
06/2013 - 05/2013
2
MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
05/2013 - 05/2009
2
5 Hypomyelinating Leukodystrophy
08/2007 - 10/2006
1
Neurologic Manifestations (Neurological Manifestations)
02/2015
1
Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
02/2015
1
Sideroblastic Anemia
01/2015
1
Myopathy with lactic acidosis and sideroblastic anemia
01/2015
1
Compulsive Personality Disorder (Obsessive Compulsive Personality)
09/2014
1
Stroke (Strokes)
03/2014
1
Lactic Acidosis
03/2014
1
Myalgia
05/2013
1
Lipoma (Lipomata)
05/2013
1
Migraine Disorders (Migraine)
05/2013
1
Cardiomyopathies (Cardiomyopathy)
05/2013
1
Myoclonus (Nocturnal Myoclonus)
05/2013
1
Ophthalmoplegia (External Ophthalmoplegia)
05/2013
1
Optic Atrophy
05/2013
1
Seizures (Absence Seizure)
05/2013
1
Tremor (Tremors)
05/2013
1
Muscle Weakness
05/2013
1
Hearing Loss (Hearing Impairment)
05/2013
1
Cognitive Dysfunction
05/2013
1
autosomal recessive 1 Spinocerebellar ataxia
08/2011
1
Hereditary Spastic Paraplegia
06/2011
1
Pelizaeus-Merzbacher Disease
06/2011
1
Brain Diseases (Brain Disorder)
03/2011
1
Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
04/2010
1
Deoxyguanosine Kinase Deficiency
01/2009
1
Liver Diseases (Liver Disease)
01/2009
1
Hypoglycemia (Reactive Hypoglycemia)
01/2009
1
Demyelinating Diseases (Demyelinating Disease)
11/2008
1
Metachromatic Leukodystrophy (Sulfatide Lipidosis)
11/2008
1
Homocystinuria
04/2008
1
Methylmalonic acidemia
04/2008
1
Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
06/2004
1
Schizophrenia (Dementia Praecox)
01/2003
1
Leigh Disease (Leigh's Disease)
08/2002
Drug/Important Bio-Agent (IBA)
4
Mitochondrial DNA (mtDNA)
IBA
03/2014 - 05/2009
2
Glucose (Dextrose)
FDA Link
Generic
09/2014 - 01/2009
2
Electron Transport Complex IV (Cytochrome c Oxidase)
IBA
09/2014 - 08/2002
2
Membrane Proteins (Integral Membrane Proteins)
IBA
08/2007 - 10/2006
1
miglustat (Zavesca)
FDA Link
02/2015
1
Anticodon
IBA
01/2015
1
Tyr Transfer RNA
IBA
01/2015
1
Mitochondrial Proteins (Mitochondrial Protein)
IBA
09/2014
1
Estrogens (Estrogen)
FDA Link
03/2014
1
Creatine Kinase (Creatine Phosphokinase)
IBA
05/2013
1
Valproic Acid (Depakote)
FDA Link
Generic
10/2012
1
Biomarkers (Surrogate Marker)
IBA
01/2012
1
coenzyme Q10 (CoQ10)
IBA
08/2011
1
Myelin Proteolipid Protein
IBA
06/2011
1
Nonsense Codon (Nonsense Mutation)
IBA
03/2011
1
Protons (Proton)
IBA
12/2010
1
Apoptosis Inducing Factor
IBA
04/2010
1
Succinate Dehydrogenase (Fumarate Reductase)
IBA
06/2009
1
Biological Products
IBA
01/2009
1
Glucagon (Glukagon)
FDA Link
01/2009
1
Saposins
IBA
11/2008
1
Cerebroside-Sulfatase (Arylsulfatase A)
IBA
11/2008
1
Sulfoglycosphingolipids (Sulfatides)
IBA
11/2008
1
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
04/2008
1
Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)
IBA
05/2007
1
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
IBA
04/2007
1
Lactic Acid (Lactate)
FDA Link
Generic
04/2007
1
Sulfatases
IBA
06/2004
1
Lorenzo's oil
IBA
01/2003
1
trierucate
IBA
01/2003
1
Codon (Codons)
IBA
01/2003
Therapy/Procedure
3
Therapeutics
01/2015 - 01/2003
1
Cell Transplantation
12/2010
1
Liver Transplantation
01/2009