Ralf A. Husain

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

Tobias B. Haack, Robert Kopajtich, Peter Freisinger et al. · The American Journal of Human Genetics · 2013 · 142 citations · Full text

A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport’s syndrome

Burkhard Tönshoff, Lutz T. Weber, Lars Pape et al. · Kidney International · 2020 · 140 citations · Full text

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Niklas Darín, Emma Reid, Laurence Prunetti et al. · The American Journal of Human Genetics · 2016 · 136 citations · Full text

Molecular Neuroscience, Genetics, Medicine +2

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Christopher A. Powell, Robert Kopajtich, Aaron R. D’Souza et al. · The American Journal of Human Genetics · 2015 · 101 citations · Full text

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy

Astrid Pechmann, Max Behrens, Katharina Dörnbrack et al. · Brain · 2022 · 65 citations · Full text