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International Journal of Molecular Sciences|January 25, 2025
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature ReviewMartina Magistrati, Luisa Zupin, Eleonora Lamantea, et al.Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.Mitochondrion|March 31, 2025
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotypePiervito Lopriore, Andrea Legati, Christiane Michaela Neuhofer, et al.Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.Journal of Alzheimer'S Disease : JAD|October 8, 2016
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral NeuropathyJamie C Fong, Julio C Rojas, Jee Bang, et al.Human Genomics|November 6, 2024
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing dataFerdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, et al.Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.International Journal of Molecular Sciences|July 27, 2024
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory VomitingBeatrice Berti, Daniela Verrigni, Alessia Nasca, et al.EMBO Molecular Medicine|September 24, 2020
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex IAhmad Alahmad, Alessia Nasca, Juliana Heidler, et al.Acta Neuropathologica Communications|April 9, 2015
A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaquesFermin Moreno, Gil D Rabinovici, Anna Karydas, et al.Pageof 6