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Journal of the Peripheral Nervous System : JPNS|April 13, 2022
Validation of the Italian version of the pediatric CMT quality of life outcome measureIsabella Moroni, Federica Rachele Danti, Davide Pareyson, et al.Mitochondrion|April 2, 2021
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in ItalyMichelangelo Mancuso, Chiara La Morgia, Maria Lucia Valentino, et al.Clinical Therapeutics|March 14, 2025
PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label TrialSilvia Marchet, Alessia Catania, Anna Ardissone, 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.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.Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.American Journal of Human Genetics|May 6, 2017
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual DisabilityKatrina Tatton-Brown, Chey Loveday, Shawn Yost, et al.European Journal of Neurology|June 7, 2021
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type CTatiana Bremova-Ertl, Larry Abel, Mark Walterfang, et al.Orphanet Journal of Rare Diseases|October 10, 2021
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseasesAnna Ardissone, Claudio Bruno, Daria Diodato, 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.Pageof 7