Arnold Münnich

ORCID：0000-0001-6117-7588

发表论文 941 篇 · 总被引 68816 次 · h-index 130

代表论文

• The CLDN5 gene at the blood-brain barrier in health and disease (2023 · Fluids and Barriers of the CNS · 被引 137)
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita (2021 · Journal of Medical Genetics · 被引 66)
• MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia (2020 · Nature Communications · 被引 66)
• Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts (2021 · Blood · 被引 44)
• Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia (2022 · Brain · 被引 43)
• Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders (2023 · Journal of Clinical Investigation · 被引 33)