F. Distelmaier

发表论文 203 篇 · 总被引 6461 次 · h-index 44

代表论文

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia (2025 · Brain : a journal of neurology · 被引 30)
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 (2025 · Neurology · 被引 19)
Pluripotent stem cell-based screening uncovers sildenafil as a treatment for mitochondrial disease (2026 · Cell · 被引 14)
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism (2025 · Annals of Neurology · 被引 6)
Pleiotropic effects of MORC2 derive from its epigenetic signature (2025 · Brain : a journal of neurology · 被引 6)
Accelerating Leigh syndrome drug discovery through deep learning screening in brain organoids (2026 · Nature Communications · 被引 5)