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Journal of Inherited Metabolic Disease|December 31, 1998
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutationsM E Vázquez-Memije, S Shanske, F M Santorelli, et al.The Journal of Pediatrics|March 1, 1993
Maternally inherited Leigh syndromeE Ciafaloni, F M Santorelli, S Shanske, et al.Neurology|June 1, 1993
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation")G Silvestri, E Ciafaloni, F M Santorelli, et al.Human Mutation|January 1, 1994
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathyG Silvestri, F M Santorelli, S Shanske, et al.Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-Facciale|October 27, 2006
Lipoid proteinosis: case report and review of the literatureS Di Giandomenico, R Masi, D Cassandrini, et al.Neurobiology of Disease|November 12, 2023
Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinosesN Gammaldi, F Pezzini, E Michelucci, et al.American Journal of Medical Genetics|April 15, 1994
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)G M Pastores, F M Santorelli, S Shanske, et al.Neuropediatrics|November 9, 2000
A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCLA Simonati, E Santorum, A Tessa, et al.Journal of Neurology|May 11, 2015
Acute optic neuropathy associated with a novel MFN2 mutationLuca Leonardi, Christian Marcotulli, Eugenia Storti, et al.Journal of Inherited Metabolic Disease|January 1, 1996
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndromeM E Vazquez-Memije, S Shanske, F M Santorelli, et al.Pageof 13