Thomas Klopstock

German Center for Neurodegenerative Diseases — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

83h-index25.4kcitations1.3kworks5.92yr avg
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Research Topics

Mitochondrial Function and Pathology(227), Metabolism and Genetic Disorders(138), Genetic Neurodegenerative Diseases(87), Neurological diseases and metabolism(60), ATP Synthase and ATPases Research(49)

Publications714 total

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
The Lancet Regional Health - Europe·2025Open Access
Autorinnen und Autoren
Elsevier eBooks·2025
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy
Brain·2025Open Access
Idebenone as a treatment for Leber hereditary optic neuropathy: A plain language summary of the LEROS study publication
Expert Review of Ophthalmology·2025
Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the <scp>EFACTS</scp> Study
Movement Disorders·2025Open Access
3D Quantification of Viral Transduction Efficiency in Living Human Retinal Organoids
Small Methods·2025Open Access
Pädiatrische Neurologie - Neuropädiatrie
2025
Pluripotent stem cell-based drug discovery uncovers sildenafil as a treatment for mitochondrial disease
2025· 4 citedOpen Access
Pleiotropic effects of <i>MORC2</i> derive from its epigenetic signature
Brain·2025· 2 citedOpen Access
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort
EBioMedicine·2025· 7 citedOpen Access
Post-hoc Analysis of the LEROS Study: Impact of Time to Idebenone Initiation on Visual Acuity in Leber Hereditary Optic Neuropathy (P5-11.024)
Neurology·2025
Sex-based Differences in Visual Acuity Outcomes in a Historical Cohort of Patients with Leber Hereditary Optic Neuropathy from Case Record Survey-2 (CRS-2) (P5-11.018)
Neurology·2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
Neurology·2025· 10 citedOpen Access
Leber’s hereditary optic neuropathy – current status of idebenone and gene replacement therapies
Medizinische Genetik·2025· 8 citedOpen Access
Changes in visual acuity categories in a historical population of patients with leber hereditary optic neuropathy from case record survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Visual acuity outcomes by causative mutation in the natural history of leber hereditary optic neuropathy: Analysis of historical data from case record survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
Matching algorithm utilised in the leros study of idebenone efficacy in leber hereditary optic neuropathy
Acta Ophthalmologica·2025
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the <scp>EFACTS</scp> natural history study
European Journal of Neurology·2025· 1 citedOpen Access
Visual acuity outcomes by age at symptom onset in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey‐2 (CRS‐2)
Acta Ophthalmologica·2025
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Frequent Co-authors

Lore Becker(12), Holger Prokisch(12), Martin Hrabě de Angelis(11), Helmut Fuchs(11), Thomas Meitinger(10), Tim M. Strom(10), Sabine M. Hölter(9), Wolfgang Wurst(8), Valérie Gailus‐Durner(8), Patrick Yu‐Wai‐Man(7), Patrick F. Chinnery(7), Tobias B. Haack(7), Eckhard Wolf(6), Martin Klingenspor(6), Rita Horváth(6), Valério Carelli(6), Douglass M. Turnbull(5), Birgit Rathkolb(5), Andreas Zimmer(5), Wolfgang Hans(5)