Thomas Klopstock

Research interests

Publications

• Clinical implementation of RNA sequencing for Mendelian disease diagnostics

  Genome Medicine · 2022 · 10.1186/s13073-022-01019-9

• Mitochondrial disease in adults: recent advances and future promise

  The Lancet Neurology · 2021 · 10.1016/s1474-4422(21)00098-3

• Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

  Science Translational Medicine · 2020 · 10.1126/scitranslmed.aaz7423

• International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

  Journal of Neuro-Ophthalmology · 2017 · 10.1097/wno.0000000000000570

• Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

  The Lancet Neurology · 2015 · 10.1016/s1474-4422(14)70321-7

• Aberrant methylation of tRNAs links cellular stress to neuro‐developmental disorders

  The EMBO Journal · 2014 · https://doi.org/10.15252/embj.201489282

• Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy

  Brain · 2013 · 10.1093/brain/aws279

• Rapamycin extends murine lifespan but has limited effects on aging

  Journal of Clinical Investigation · 2013 · 10.1172/jci67674

• Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

  Nature Genetics · 2013 · 10.1038/ng.2501

• Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

  Journal of Medical Genetics · 2012 · 10.1136/jmedgenet-2012-100846

• Targeted next generation sequencing as a diagnostic tool in epileptic disorders

  Epilepsia · 2012 · 10.1111/j.1528-1167.2012.03516.x

• A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

  Neurology · 2011 · 10.1212/wnl.0b013e318225ab07

• A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

  Brain · 2011 · https://doi.org/10.1093/brain/awr170

• Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

  The American Journal of Human Genetics · 2011 · 10.1016/j.ajhg.2011.09.007

• Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure

  Movement Disorders · 2011 · 10.1002/mds.23978

• Post-Stroke Inhibition of Induced NADPH Oxidase Type 4 Prevents Oxidative Stress and Neurodegeneration

  PLoS Biology · 2010 · 10.1371/journal.pbio.1000479

• Neuron-glia communication via EphA4/ephrin-A3 modulates LTP through glial glutamate transport

  Nature Neuroscience · 2009 · 10.1038/nn.2394

• SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

  Nature Genetics · 2009 · 10.1038/ng.378

• Gene–environment interactions in Leber hereditary optic neuropathy

  Brain · 2009 · 10.1093/brain/awp158

• A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice

  Cell · 2009 · https://doi.org/10.1016/j.cell.2009.03.041

• Neuronal 3′,3,5-Triiodothyronine (T 3 ) Uptake and Behavioral Phenotype of Mice Deficient in Mct8 , the Neuronal T 3 Transporter Mutated in Allan–Herndon–Dudley Syndrome

  Journal of Neuroscience · 2009 · 10.1523/jneurosci.6055-08.2009

• Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

  Annals of Neurology · 2006 · 10.1002/ana.20771

• High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1769

• Introducing the German Mouse Clinic: open access platform for standardized phenotyping

  Nature Methods · 2005 · 10.1038/nmeth0605-403

• Genome-wide, large-scale production of mutant mice by ENU mutagenesis

  Nature Genetics · 2000 · https://doi.org/10.1038/78146

Current projects

No projects listed.