Matthew Nalls

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 152 citations · Full text

Life Sciences, Neurology, Neuroscience +14

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa et al. · JCI Insight · 2019 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic loss of function variants in <scp><i>SYT2</i></scp> cause a treatable congenital onset presynaptic myasthenic syndrome

Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz et al. · American Journal of Medical Genetics Part A · 2020 · 28 citations · Full text

Medicine, Genetics, Neurology +17

Collagen type VI regulates TGF-β bioavailability in skeletal muscle in mice

Payam Mohassel, Hailey Hearn, Jachinta E. Rooney et al. · Journal of Clinical Investigation · 2025 · 13 citations · Full text

Medicine, Pathobiology, Pathology +17