Arnaud Vanlander

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello et al. · The Lancet Neurology · 2021 · 256 citations

Medicine, Neurology, Neuroscience +12

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Bolar, Arnaud Vanlander, Claudia Wilbrecht et al. · Human Molecular Genetics · 2013 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q

Arnaud Vanlander, Juergen G. Okun, Annick De Jaeger et al. · Anesthesiology · 2014 · 100 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17