Sandra Donkervoort

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

W. Engel, K. Ahmeti, Wenjie Chen, 2010, Neurology.

Genotype–phenotype studies of VCP‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

J. Platt, M. Pasquali, K. Osann, 2013, Clinical genetics.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Sita D Gupta, Lucy Feng, P. Mohassel, 2023, Journal of neurology, neurosurgery, and psychiatry.

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Yoshihiko Saito, R. Bryson-Richardson, G. Ravenscroft, 2023, medRxiv.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

R. Bryson-Richardson, G. Ravenscroft, L. Medne, 2024, Science Translational Medicine.