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E Bertini Selected Research
E Bertini Research Topics
Disease
9
Muscular Diseases (Myopathy)
01/2018 - 10/2005
6
Ataxia (Dyssynergia)
06/2019 - 05/2002
5
Muscular Dystrophies (Muscular Dystrophy)
08/2012 - 12/2000
4
Atrophy
06/2019 - 04/2003
3
Neurodegenerative Diseases (Neurodegenerative Disease)
05/2017 - 03/2001
3
Mitochondrial Diseases (Mitochondrial Disease)
05/2002 - 11/2001
2
Neurodevelopmental Disorders
08/2022 - 05/2017
2
Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2021 - 01/2018
2
Cardiomyopathies (Cardiomyopathy)
06/2017 - 01/2002
2
Hereditary Spastic Paraplegia
11/2013 - 01/2006
2
Neuromuscular Diseases (Neuromuscular Disease)
05/2013 - 12/2005
2
Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
04/2012 - 07/2011
2
Spastic ataxia Charlevoix-Saguenay type
09/2011 - 01/2004
2
Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2005 - 01/2002
2
Bethlem myopathy
06/2005 - 11/2001
2
Scleroatonic muscular dystrophy
06/2005 - 06/2001
2
Leigh Disease (Leigh's Disease)
05/2004 - 03/2001
2
Friedreich Ataxia (Friedreich's Ataxia)
05/2002 - 11/2001
2
Hyperammonemia
11/2001 - 09/2001
1
Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
08/2017
1
Vision Disorders (Hemeralopia)
06/2017
1
Nonsyndromic Deafness
06/2017
1
Polyneuropathies (Polyneuropathy)
06/2017
1
Microcephaly
06/2017
1
congenital Microcoria
05/2017
1
Blood Platelet Disorders (Thrombocytopathy)
05/2017
1
Spinocerebellar Ataxias (Spinocerebellar Ataxia)
11/2013
1
Intellectual Disability (Idiocy)
11/2013
1
Pontocerebellar Hypoplasia Type 1
11/2013
1
Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
03/2013
1
Dermatomyositis (Dermatopolymyositis)
04/2012
1
Wasting Syndrome (Wasting Disease)
04/2012
1
Myositis (Idiopathic Inflammatory Myopathies)
04/2012
1
Disease Progression
04/2012
1
Pontocerebellar Hypoplasia
10/2010
1
Cognitive Dysfunction
09/2010
1
Epilepsy (Aura)
11/2009
1
Alzheimer Disease (Alzheimer's Disease)
10/2008
1
Nervous System Diseases (Neurological Disorders)
10/2008
1
Neurodegeneration with brain iron accumulation (NBIA)
10/2008
1
Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)
10/2008
1
Cysts
01/2008
1
Telangiectasis (Telangiectasia)
01/2008
1
Cerebroretinal Microangiopathy with Calcifications and Cysts
01/2008
1
Heart Diseases (Heart Disease)
09/2007
1
Paroxysmal nonkinesigenic dyskinesia
05/2007
1
Pelizaeus-Merzbacher Disease
01/2006
1
Glycogen Storage Disease Type II (Pompe's Disease)
10/2005
1
Cerebellar Ataxia (Dysmetria)
04/2003
1
Leukoencephalopathies
12/2002
Drug/Important Bio-Agent (IBA)
8
Proteins (Proteins, Gene)
FDA Link
06/2019 - 11/2001
5
Dystroglycans (Dystroglycan)
IBA
03/2013 - 07/2008
4
Mitochondrial DNA (mtDNA)
IBA
08/2017 - 04/2000
3
Iron
IBA
10/2008 - 11/2001
2
nusinersen
IBA
01/2021 - 01/2018
2
Creatine Kinase (Creatine Phosphokinase)
IBA
05/2017 - 02/2000
2
Retinaldehyde (Retinal)
IBA
09/2011 - 01/2008
2
Collagen Type VI
IBA
06/2005 - 06/2001
2
Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)
IBA
05/2004 - 12/2002
2
Adenosine Triphosphate (ATP)
IBA
05/2004 - 03/2001
2
Adenosine Triphosphatases (ATPase)
IBA
05/2004 - 03/2001
2
Antioxidants
IBA
05/2002 - 11/2001
2
Mitochondrial Proteins (Mitochondrial Protein)
IBA
05/2002 - 11/2001
2
Free Radicals
IBA
05/2002 - 11/2001
2
Frataxin
IBA
05/2002 - 11/2001
2
HHH syndrome
IBA
11/2001 - 09/2001
2
Nonsense Codon (Nonsense Mutation)
IBA
09/2001 - 06/2000
1
Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)
IBA
08/2022
1
Nuclear Pore Complex Proteins (Nucleoporins)
IBA
06/2019
1
Cofilin 2
IBA
01/2018
1
Electron Transport Complex IV (Cytochrome c Oxidase)
IBA
06/2017
1
Lysine-tRNA Ligase
IBA
06/2017
1
Tubulin
IBA
05/2017
1
Calcium Release Activated Calcium Channels
IBA
05/2017
1
Myosin Heavy Chains (Myosin Heavy Chain)
IBA
01/2016
1
Myosins (Myosin)
IBA
05/2013
1
Chemokine CCL2 (Monocyte Chemoattractant Protein 1)
IBA
04/2012
1
Cytokines
IBA
04/2012
1
Dystrophin
IBA
04/2012
1
Interleukin-6 (Interleukin 6)
IBA
04/2012
1
Transforming Growth Factors (Transforming Growth Factor)
IBA
04/2012
1
Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)
IBA
04/2012
1
Interleukin-17 (Interleukin 17)
IBA
04/2012
1
Messenger RNA (mRNA)
IBA
04/2012
1
Steroids
IBA
07/2011
1
Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)
IBA
11/2010
1
Calcium
IBA
11/2010
1
splicing endonuclease
IBA
10/2010
1
Laminin (Merosin)
IBA
09/2010
1
Glycosyltransferases
IBA
05/2009
1
Phospholipases (Phospholipase)
IBA
10/2008
1
Caffeine (No Doz)
FDA Link
Generic
05/2007
1
Connexins
IBA
01/2006
1
Lamin Type A (Lamin A)
IBA
12/2005
1
Pharmaceutical Preparations
IBA
10/2005
1
Glycogen
IBA
10/2005
1
Extracellular Matrix Proteins
IBA
06/2005
1
Protons (Proton)
IBA
05/2004
1
coenzyme Q10 (CoQ10)
IBA
04/2003
1
Peptide Initiation Factors (Initiation Factor)
IBA
12/2002