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E Bertini Selected Research

E Bertini Research Topics

Disease

9Muscular Diseases (Myopathy)
01/2018 - 10/2005
6Ataxia (Dyssynergia)
06/2019 - 05/2002
5Muscular Dystrophies (Muscular Dystrophy)
08/2012 - 12/2000
4Atrophy
06/2019 - 04/2003
3Neurodegenerative Diseases (Neurodegenerative Disease)
05/2017 - 03/2001
3Mitochondrial Diseases (Mitochondrial Disease)
05/2002 - 11/2001
2Neurodevelopmental Disorders
08/2022 - 05/2017
2Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2021 - 01/2018
2Cardiomyopathies (Cardiomyopathy)
06/2017 - 01/2002
2Hereditary Spastic Paraplegia
11/2013 - 01/2006
2Neuromuscular Diseases (Neuromuscular Disease)
05/2013 - 12/2005
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
04/2012 - 07/2011
2Spastic ataxia Charlevoix-Saguenay type
09/2011 - 01/2004
2Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2005 - 01/2002
2Bethlem myopathy
06/2005 - 11/2001
2Scleroatonic muscular dystrophy
06/2005 - 06/2001
2Leigh Disease (Leigh's Disease)
05/2004 - 03/2001
2Friedreich Ataxia (Friedreich's Ataxia)
05/2002 - 11/2001
2Hyperammonemia
11/2001 - 09/2001
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
08/2017
1Vision Disorders (Hemeralopia)
06/2017
1Nonsyndromic Deafness
06/2017
1Polyneuropathies (Polyneuropathy)
06/2017
1Microcephaly
06/2017
1congenital Microcoria
05/2017
1Blood Platelet Disorders (Thrombocytopathy)
05/2017
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
11/2013
1Intellectual Disability (Idiocy)
11/2013
1Pontocerebellar Hypoplasia Type 1
11/2013
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
03/2013
1Dermatomyositis (Dermatopolymyositis)
04/2012
1Wasting Syndrome (Wasting Disease)
04/2012
1Myositis (Idiopathic Inflammatory Myopathies)
04/2012
1Disease Progression
04/2012
1Pontocerebellar Hypoplasia
10/2010
1Cognitive Dysfunction
09/2010
1Epilepsy (Aura)
11/2009
1Alzheimer Disease (Alzheimer's Disease)
10/2008
1Nervous System Diseases (Neurological Disorders)
10/2008
1Neurodegeneration with brain iron accumulation (NBIA)
10/2008
1Neuroaxonal Dystrophies (Neuroaxonal Dystrophy, Late Infantile)
10/2008
1Cysts
01/2008
1Telangiectasis (Telangiectasia)
01/2008
1Cerebroretinal Microangiopathy with Calcifications and Cysts
01/2008
1Heart Diseases (Heart Disease)
09/2007
1Paroxysmal nonkinesigenic dyskinesia
05/2007
1Pelizaeus-Merzbacher Disease
01/2006
1Glycogen Storage Disease Type II (Pompe's Disease)
10/2005
1Cerebellar Ataxia (Dysmetria)
04/2003
1Leukoencephalopathies
12/2002

Drug/Important Bio-Agent (IBA)

8Proteins (Proteins, Gene)FDA Link
06/2019 - 11/2001
5Dystroglycans (Dystroglycan)IBA
03/2013 - 07/2008
4Mitochondrial DNA (mtDNA)IBA
08/2017 - 04/2000
3IronIBA
10/2008 - 11/2001
2nusinersenIBA
01/2021 - 01/2018
2Creatine Kinase (Creatine Phosphokinase)IBA
05/2017 - 02/2000
2Retinaldehyde (Retinal)IBA
09/2011 - 01/2008
2Collagen Type VIIBA
06/2005 - 06/2001
2Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA
05/2004 - 12/2002
2Adenosine Triphosphate (ATP)IBA
05/2004 - 03/2001
2Adenosine Triphosphatases (ATPase)IBA
05/2004 - 03/2001
2AntioxidantsIBA
05/2002 - 11/2001
2Mitochondrial Proteins (Mitochondrial Protein)IBA
05/2002 - 11/2001
2Free RadicalsIBA
05/2002 - 11/2001
2FrataxinIBA
05/2002 - 11/2001
2HHH syndromeIBA
11/2001 - 09/2001
2Nonsense Codon (Nonsense Mutation)IBA
09/2001 - 06/2000
1Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
08/2022
1Nuclear Pore Complex Proteins (Nucleoporins)IBA
06/2019
1Cofilin 2IBA
01/2018
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
06/2017
1Lysine-tRNA LigaseIBA
06/2017
1TubulinIBA
05/2017
1Calcium Release Activated Calcium ChannelsIBA
05/2017
1Myosin Heavy Chains (Myosin Heavy Chain)IBA
01/2016
1Myosins (Myosin)IBA
05/2013
1Chemokine CCL2 (Monocyte Chemoattractant Protein 1)IBA
04/2012
1CytokinesIBA
04/2012
1DystrophinIBA
04/2012
1Interleukin-6 (Interleukin 6)IBA
04/2012
1Transforming Growth Factors (Transforming Growth Factor)IBA
04/2012
1Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
04/2012
1Interleukin-17 (Interleukin 17)IBA
04/2012
1Messenger RNA (mRNA)IBA
04/2012
1SteroidsIBA
07/2011
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
11/2010
1CalciumIBA
11/2010
1splicing endonucleaseIBA
10/2010
1Laminin (Merosin)IBA
09/2010
1GlycosyltransferasesIBA
05/2009
1Phospholipases (Phospholipase)IBA
10/2008
1Caffeine (No Doz)FDA LinkGeneric
05/2007
1ConnexinsIBA
01/2006
1Lamin Type A (Lamin A)IBA
12/2005
1Pharmaceutical PreparationsIBA
10/2005
1GlycogenIBA
10/2005
1Extracellular Matrix ProteinsIBA
06/2005
1Protons (Proton)IBA
05/2004
1coenzyme Q10 (CoQ10)IBA
04/2003
1Peptide Initiation Factors (Initiation Factor)IBA
12/2002