A. Bischoff

机构：German Center for Neurodegenerative Diseases, Friedrich Baur Stiftung, Ludwig-Maximilians-Universität München

发表论文 14 篇 · 总被引 252 次 · h-index 7

代表论文

• Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study (2021 · The Lancet Neurology · 被引 100)
• Safety, tolerability and pharmacokinetics of PL 14736, a novel agent for treatment of ulcerative colitis, in healthy male volunteers. (2002 · 被引 33)
• Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration (2020 · Movement Disorders · 被引 30)
• De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia (2022 · Movement Disorders · 被引 27)
• Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility (2020 · Human Mutation · 被引 22)
• Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation (2024 · Brain · 被引 16)