Diego Martinelli

Whole‐exome sequencing detects somatic mutations of <i>IDH1</i> in metaphyseal chondromatosis with <scp>D</scp>‐2‐hydroxyglutaric aciduria (MC‐HGA)

Lisenka E.L.M. Vissers, Virginia Fano, Diego Martinelli et al. · American Journal of Medical Genetics Part A · 2011 · 49 citations

Unrelated Patients, Exome Sequencing, Genetics +24

Synergistic use of glycomics and single‐molecule molecular inversion probes for <scp>identification</scp> of congenital disorders of glycosylation type‐1

Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum et al. · Journal of Inherited Metabolic Disease · 2022 · 21 citations · Full text

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

Luca Pasquini, Alessia Guarnera, Rossi-Espagnet Maria Camilla et al. · Neuroradiology · 2020 · 17 citations · Full text

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8

Sara Carli, Anna Levarlet, Daria Diodato et al. · Neurology · 2025 · 10 citations · Full text