Differential diagnosis of neurodegenerative dementias with the explainable MRI based machine learning algorithm MUQUBIASilvia De Francesco, Anna Nigri, Maria Grazia Bruzzone et al.|Scientific Reports|2023Cited by 25
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Tobias B. Haack, Sami E.M. Mohammed et al.|The American Journal of Human Genetics|2022Cited by 22
Biallelic loss of <scp><i>EMC10</i></scp> leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Reza Maroofian, Clarissa Rocca et al.|Annals of Clinical and Translational Neurology|2022Cited by 16