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Johannes N Spelbrink Selected Research

Infantile onset spinocerebellar ataxia

1/2009Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
12/2008Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
10/2005Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

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Johannes N Spelbrink Research Topics

Disease

6Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
01/2009 - 01/2004
4Mitochondrial Diseases (Mitochondrial Disease)
06/2017 - 12/2004
3Neoplasms (Cancer)
03/2015 - 05/2006
3Infantile onset spinocerebellar ataxia
01/2009 - 10/2005
2Atrophy
01/2022 - 02/2015
2Optic Atrophy
01/2022 - 01/2020
2Deafness (Deaf Mutism)
06/2012 - 06/2002
2Premature Aging
12/2005 - 12/2005
1Photophobia (Light Sensitivity)
01/2022
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2022
1Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
01/2020
1AIDS-Related Complex (ARC)
11/2018
1Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
06/2017
1Cerebellar Diseases (Cerebellar Syndrome)
06/2017
1Neurodegenerative Diseases (Neurodegenerative Disease)
06/2017
1Rare Diseases (Rare Disease)
04/2015
1Mitochondrial Myopathies (Mitochondrial Myopathy)
04/2015
1Liver Neoplasms (Liver Cancer)
03/2015
1Brain Diseases (Brain Disorder)
02/2015
1Leukemia
02/2015
1Intellectual Disability (Idiocy)
02/2015
1Movement Disorders (Movement Disorder)
02/2015
1Neutropenia
02/2015
1Cataract (Cataracts)
02/2015
1Renal Cell Carcinoma (Grawitz Tumor)
10/2014
1Inborn Genetic Diseases (Disease, Hereditary)
10/2014
1Muscular Diseases (Myopathy)
07/2014
1Neuromuscular Diseases (Neuromuscular Disease)
07/2014
1Dystonia (Limb Dystonia)
06/2012
1Infections
06/2012
1Ophthalmoplegia (External Ophthalmoplegia)
03/2011
1Aneuploidy (Aneuploid)
08/2009
1Ataxia Neuropathy Spectrum
12/2008
1Ataxia (Dyssynergia)
12/2008
1Cardiomegaly (Heart Hypertrophy)
05/2004
1Osteoporosis
05/2004
1Weight Loss (Weight Reduction)
05/2004
1Kyphosis
05/2004
1Alopecia (Baldness)
05/2004

Drug/Important Bio-Agent (IBA)

17Mitochondrial DNA (mtDNA)IBA
01/2020 - 06/2002
2Pharmaceutical PreparationsIBA
06/2017 - 03/2015
2CholesterolIBA
06/2017 - 06/2012
2Proteins (Proteins, Gene)FDA Link
10/2014 - 12/2007
1Lactic Acid (Lactate)FDA LinkGeneric
01/2022
1Adenosine Triphosphate (ATP)IBA
03/2015
1Reactive Oxygen Species (Oxygen Radicals)IBA
03/2015
1Sorafenib (BAY 43-9006)FDA Link
03/2015
1Messenger RNA (mRNA)IBA
02/2015
13-methylglutaconic acidIBA
02/2015
1PhosphatidylglycerolsIBA
06/2012
1Phospholipids (Phosphatides)FDA LinkGeneric
06/2012
1DNA-Directed DNA Polymerase (Polymerases, DNA)IBA
03/2011
1ChromatinIBA
08/2009
1DNA (Deoxyribonucleic Acid)IBA
08/2009
1DNA Polymerase gammaIBA
12/2008
1Protein Isoforms (Isoforms)IBA
05/2006
1Mitochondrial Proteins (Mitochondrial Protein)IBA
10/2005
1DNA HelicasesIBA
12/2004
1Ser Transfer RNAIBA
06/2002

Therapy/Procedure

1Therapeutics
12/2005