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Journal of Child Neurology|March 24, 2011
Spinal cord calcification in an early-onset progressive leukoencephalopathySimona Orcesi, Roberta La Piana, Carla Uggetti, et al.Neurology. Genetics|September 3, 2025
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular AtrophyMartina Rimoldi, Francesca Magri, Megi Meneri, et al.BMC Neurology|April 24, 2023
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutationSimone Scarcella, Laura Dell'Arti, Delia Gagliardi, et al.International Journal of Molecular Sciences|June 27, 2024
Association between ZASP/LDB3 Pro26Ser and Inclusion Body MyopathyDaniela Piga, Simona Zanotti, Michela Ripolone, et al.Frontiers in Genetics|August 28, 2020
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA HomeostasisDario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, et al.BMC Neurology|August 28, 2020
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENGDavide Villa, Claudia Cinnante, Gloria Valcamonica, et al.Human Molecular Genetics|August 11, 2016
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neuronsFederica Rizzo, Dario Ronchi, Sabrina Salani, et al.Metabolic Brain Disease|August 6, 2021
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous MalformationsSilvia Lanfranconi, Lorenzo Piergallini, Dario Ronchi, et al.Brain : a Journal of Neurology|April 25, 2024
Unleashing the potential of mRNA therapeutics for inherited neurological diseasesEdoardo Monfrini, Giacomo Baso, Dario Ronchi, et al.Journal of the Neurological Sciences|December 27, 2011
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian familiesMichela Ranieri, Roberto Del Bo, Andreina Bordoni, et al.Pageof 12