Sonja Neuser

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

Julian Schröter, Bernt Popp, Heiko Brennenstuhl et al. · European Journal of Human Genetics · 2022 · 23 citations · Full text

The clinical and molecular spectrum of <i>ZFYVE26</i>-associated hereditary spastic paraplegia: SPG15

Afshin Saffari, Melanie Kellner, Catherine Jordan et al. · Brain · 2022 · 22 citations · Full text

Pain Disorders, Neurological Disorder, Genetic Epidemiology +16

Pharmacological inhibition of focal segmental glomerulosclerosis‐related, gain of function mutants of TRPC6 channels by semi‐synthetic derivatives of larixol

Nicole Urban, Sonja Neuser, Anika Hentschel et al. · British Journal of Pharmacology · 2017 · 21 citations · Full text

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza et al. · Genome Medicine · 2022 · 20 citations · Full text