RONCHI, DARIO

RONCHI, DARIO  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Unleashing the potential of mRNA therapeutics for inherited neurological diseases 2024 Monfrini, EdoardoBaso, GiacomoRonchi, DarioMeneri, MegiGagliardi, DeliaVerde, FedericoTicozzi, NicolaRatti, AntoniaComi, Giacomo POttoboni, LindaCorti, Stefania + Article (author) -
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 2023 Sansone, Valeria AComi, Giacomo PCorti, StefaniaRonchi, Dario + Article (author) -
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization 2023 Ripolone, MichelaRonchi, DarioComi, Giacomo Pietro + Article (author) -
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients 2023 Manini, AriannaGagliardi, DeliaMeneri, MegiDel Bo, RobertoComi, Giacomo PietroCorti, StefaniaRonchi, Dario + Article (author) -
Lafora Disease: A Case Report and Evolving Treatment Advancements 2023 Ferrari Aggradi, Carola RitaRomagnoli, GloriaComi, Giacomo PietroRonchi, DarioCorti, Stefania + Article (author) -
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 2023 Lamantea E.Peverelli L.Magri F.Comi G. P.Ronchi D.Ghezzi D.Lamperti C. + Article (author) -
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family 2023 Monfrini E.Ronchi D. + Article (author) -
Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy 2023 Pagliarani, SerenaCogiamanian, FilippoCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant 2023 Magri, FrancescaRipolone, MichelaSalani, SabrinaFortunato, FrancescoCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study 2023 Gagliardi, DeliaMeneri, MegiDel Bo, RobertoComi, Giacomo PietroRatti, AntoniaTicozzi, NicolaSilani, VincenzoRonchi, DarioCorti, Stefania + Article (author) -
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome 2023 Monfrini E.Ronchi D. + Article (author) -
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome 2023 Lopez, GianlucaRonchi, DarioPeverelli, ErikaComi, Giacomo PMantovani, Giovanna + Article (author) -
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy 2023 Ronchi, DarioMagri, FrancescaMeneri, MegiDilena, RobertinoPicciolli, IreneSalani, SabrinaFortunato, FrancescoMosca, FabioCorti, StefaniaComi, Giacomo Pietro + Article (author) -
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes 2023 Ronchi, DarioFortunato, FrancescoCorti, StefaniaComi, Giacomo Pietro + Article (author) -
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial 2023 Lanfranconi, SilviaBertani, Giulio ADejana, ElisabettaGiacomo P ComiGiorgio ConteMarco LocatelliDario RonchiLaura Tassi + Article (author) -
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions 2022 Manini, AriannaMeneri, MegiCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family 2022 Gagliardi, DeliaDel Bo, RobertoMeneri, MegiComi, Giacomo PietroCorti, StefaniaRonchi, Dario + Article (author) -
Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction : a trembling balance 2022 Manini, AriannaAbati, ElenaComi, Giacomo PietroCorti, StefaniaRonchi, Dario Article (author) -
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis 2022 Manini, AriannaGagliardi, DeliaMeneri, MegiDel Bo, RobertoComi, Giacomo PietroCorti, StefaniaRonchi, Dario + Article (author) -
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review 2022 Napoli, LauraMilani, DonatellaFortunato, FrancescoCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -