Svetlana Gorokhova

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Lev G. Goldfarb, Kyeyoon Park, Larisa Červen̆áková et al. · Nature Genetics · 1998 · 503 citations

Missense Mutations, Cardiomyopathy, Mendelian Disorder +7

A novel family of transmembrane proteins interacting with β subunits of the Na,K-ATPase

Svetlana Gorokhova, Stéphanie Bibert, Käthi Geering et al. · Human Molecular Genetics · 2007 · 76 citations · Full text

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht et al. · Human Genetics · 2018 · 60 citations · Full text

Channelopathies, Genetic Variants, Genetic Disorder +8

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 41 citations · Full text

Novel <i>CAPN3</i> variant associated with an autosomal dominant calpainopathy

Mathieu Cérino, Emmanuelle Salort‐Campana, Alexandra Salvi et al. · Neuropathology and Applied Neurobiology · 2020 · 30 citations · Full text