Angela Lochmüller

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

António Atalaia, Rachel Thompson, Alberto Corvò et al. · Orphanet Journal of Rare Diseases · 2020 · 37 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Semra Hız Kurul, Yavuz Oktay, Ana Töpf et al. · Brain · 2021 · 34 citations · Full text

Life Sciences, Genetics, Pediatrics +13

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Grace McMacken, Hanns Lochmüller, Boglárka Bánsági et al. · Journal of Neurology · 2020 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis

Thiloka Ratnaike, Nour Elkhateeb, Angela Lochmüller et al. · BMJ Neurology Open · 2024 · 10 citations · Full text

Medicine, Pharmacology, Toxicology +17