HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

E Bertini Selected Research

Ataxia (Dyssynergia)

6/2019Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.
1/2019Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.
5/2004The effect of genotype on the natural history of eIF2B-related leukodystrophies.
4/2003Cerebellar ataxia and coenzyme Q10 deficiency.
12/2002A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
5/2002Antioxidant enzymes in blood of patients with Friedreich's ataxia.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown:


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