RONCHI, DARIO

RONCHI, DARIO  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy 2024 Fortunato, FrancescoRonchi, DarioComi, Giacomo PietroCorti, Stefania + Article (author) -
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition 2024 Magri, FrancescaComi, Giacomo PietroRonchi, DarioCorti, Stefania + Article (author) -
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) -
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease 2024 Ronchi, DarioMagri, FrancescaComi, Giacomo Pietro + Article (author) -
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome 2023 Lopez, GianlucaRonchi, DarioPeverelli, ErikaComi, Giacomo PMantovani, Giovanna + 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) -
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) -
Lafora Disease: A Case Report and Evolving Treatment Advancements 2023 Ferrari Aggradi, Carola RitaRomagnoli, GloriaComi, Giacomo PietroRonchi, DarioCorti, Stefania + 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) -
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy 2023 Romagnoli, GloriaMagri, FrancescaCinnante, ClaudiaCorti, 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) -
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) -
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) -
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) -
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) -
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family 2023 Monfrini E.Ronchi D. + Article (author) -
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome 2023 Monfrini E.Ronchi D. + 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) -
Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction : a trembling balance 2022 Manini, AriannaAbati, ElenaComi, Giacomo PietroCorti, StefaniaRonchi, Dario Article (author) -