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Brain Sciences|October 28, 2023
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia SyndromeGiulia Di Rauso, Andrea Castellucci, Francesco Cavallieri, et al.Journal of Cellular and Molecular Medicine|February 8, 2020
Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patientsIrene Faravelli, Megi Meneri, Domenica Saccomanno, et al.Brain Communications|September 24, 2024
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohortElena Abati, Delia Gagliardi, Arianna Manini, et al.JAMA Neurology|April 7, 2015
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular AtrophyMichela Ripolone, Dario Ronchi, Raffaella Violano, et al.Journal of Molecular Neuroscience : MN|April 24, 2016
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian PatientsDaniela Piga, Francesca Magri, Dario Ronchi, et al.American Journal of Human Genetics|January 29, 2013
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instabilityDario Ronchi, Alessio Di Fonzo, Weiqiang Lin, et al.Cell Reports|April 16, 2025
KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformationMaximiliano Arce, Iza Erzar, Fan Yang, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 6, 2022
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective StudyMarco Percetti, Giulia Franco, Edoardo Monfrini, et al.Neurology|May 9, 2014
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutationAlessio Di Fonzo, Dario Ronchi, Francesca Gallia, et al.European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, et al.Pageof 12