S. Benedetti

发表

Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

Gabriele Siciliano, Chiara Di Resta, Maurizio Ferrari, 2014, Clinica chimica acta; international journal of clinical chemistry.

Transplantation of Genetically Corrected Human iPSC-Derived Progenitors in Mice with Limb-Girdle Muscular Dystrophy

M. Oshimura, S. Benedetti, O. Cappellari, 2012, Science Translational Medicine.

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Erika Salvi, Daniele Cusi, Maurizio Ferrari, 2013, European Journal of Human Genetics.

Stem Cell–Mediated Transfer of a Human Artificial Chromosome Ameliorates Muscular Dystrophy

M. Oshimura, G. D’Antona, S. Benedetti, 2011, Science Translational Medicine.

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.

M. Filippi, A. Falini, F. Agosta, 2015, Radiology.

High-throughput genetic characterization of a cohort of Brugada syndrome patients.

Alessandro Pietrelli, Roberta Bordoni, Gianluca De Bellis, 2015, Human molecular genetics.

Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome

C. Pappone, G. Vicedomini, E. Locati, 2020, International journal of molecular sciences.

A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.

C. Di Resta, S. Benedetti, M. Ferrari, 2020, Heart rhythm.

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis

V. Santinelli, C. Pappone, G. Vicedomini, 2019, Front. Genet..

Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

C. Pappone, G. Vicedomini, E. Locati, 2019, International journal of molecular sciences.

Intra‐arterial transplantation of HLA‐matched donor mesoangioblasts in Duchenne muscular dystrophy

M. Sormani, S. Benedetti, A. Tettamanti, 2016, EMBO molecular medicine.

Embryonic Stem Cell–Derived CD166+ Precursors Develop Into Fully Functional Sinoatrial-Like Cells

S. Benedetti, S. Antonini, D. DiFrancesco, 2013, Circulation research.

emerging perspectives on laminopathies

S. Benedetti, L. Maggi, G. Lattanzi, 2016 .

PW1/Peg3 expression regulates key properties that determine mesoangioblast stem cell competence

E. Dejana, S. Benedetti, S. Antonini, 2015, Nature Communications.

Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

C. Pappone, S. Benedetti, G. Casari, 2021, International journal of molecular sciences.

Brugada syndrome genetics is associated with phenotype severity

E. Petretto, V. Santinelli, C. Pappone, 2020, European heart journal.

Effect of High-Titer Convalescent Plasma on Progression to Severe Respiratory Failure or Death in Hospitalized Patients With COVID-19 Pneumonia

A. d’Arminio Monforte, M. Massari, M. Pistello, 2021, JAMA network open.

Pre and Post-Monoclonal Infusion Neutralizing Activity in a Subgroup of Patients Treated in the Presence of two SARS-CoV-2 Dominant Variant of Concern (VOCs) and an Ongoing Vaccination. Overall Clinical Efficacy of Two Monoclonal Antibodies Association in Umbria

M. Zazzi, S. Benedetti, D. Francisci, 2022, Mediterranean journal of hematology and infectious diseases.

The "bystander effect": association of U-87 cell death with ganciclovir-mediated apoptosis of nearby cells and lack of effect in athymic mice.

G. Finocchiaro, B. Pollo, S. Benedetti, 1995, Human gene therapy.

Pericytes in Muscular Dystrophies.

S. Benedetti, Francesco Saverio Tedesco, L. Moyle, 2019, Advances in experimental medicine and biology.

Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next‐generation human artificial chromosomes for Duchenne muscular dystrophy

M. Oshimura, L. Naldini, L. Popplewell, 2017, EMBO molecular medicine.

Tedesco Ameliorates Muscular Dystrophy Mediated Transfer of a Human Artificial Chromosome − Stem Cell

M. Oshimura, S. Benedetti, L. Berghella, 2011 .

Efficient derivation and inducible differentiation of expandable skeletal myogenic cells from human ES and patient-specific iPS cells

S. Benedetti, S. Dastidar, M. Loperfido, 2015, Nature Protocols.

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot–Marie–Tooth and distal hereditary motor neuropathy

S. Benedetti, P. Solla, S. Coviello, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Limited efficacy of the HSV-TK/GCV system for gene therapy of malignant gliomas and perspectives for the combined transduction of the interleukin-4 gene.

M. Colombo, F. DiMeco, G. Finocchiaro, 1997, Human gene therapy.

Perspectives for the gene therapy of malignant gliomas by suicide gene transfer.

F. Di Meco, M. Colombo, G. Finocchiaro, 1997, Journal of neurosurgical sciences.

The association between neutrophil to lymphocyte ratio and endothelial dysfunction in people living with HIV on stable antiretroviral therapy

S. Benedetti, D. Francisci, A. Sahebkar, 2021, Expert review of anti-infective therapy.

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy

G. Comi, E. Bertini, M. Emdin, 2019, Annals of Internal Medicine.

LMNA-associated myopathies

E. Bertini, M. Pane, E. Mercuri, 2014, Neurology.

Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy

S. Rizzo, C. Basso, S. Benedetti, 2020, Pacing and clinical electrophysiology : PACE.

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

G. Boriani, A. Dello Russo, E. Ricci, 2003, Journal of medical genetics.

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

S. Benedetti, M. Ferrari, I. Fermo, 2012, Biochimica et biophysica acta.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

N. Bresolin, F. Boaretto, A. Martinuzzi, 2009, Journal of Medical Genetics.

Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study.

M. Emdin, G. Aquaro, C. Di Resta, 2020, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling

C. Wells, F. Muntoni, S. Benedetti, 2022, EMBO molecular medicine.

Molecular genetics of GLUT1DS Italian pediatric cohort: 10 novel related-disease variants and structural analysis

C. Cereda, F. Coscia, S. Benedetti, 2022, bioRxiv.

Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

C. Di Resta, S. Benedetti, S. Sala, 2022, Genes.

Co-segregation of LMNA and PMP22 gene mutations in the same family

C. Angelini, E. Pegoraro, M. Mostacciuolo, 2005, Neuromuscular Disorders.

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

N. Bresolin, E. Scarpini, A. Trabacca, 2012, Clinical genetics.

Gene transfer of suicide genes for the treatment of malignant gliomas: efficacy, limitations, and perspectives for a combined immunotherapy.

G. Broggi, R. Spreafico, F. Di Meco, 1997, Acta neurochirurgica. Supplement.

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

S. Benedetti, Daniel W. Stuckey, A. Thrasher, 2020, Molecular therapy. Methods & clinical development.

Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child

C. Pappone, M. Vatta, S. Benedetti, 2012 .

A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas

L. Tassi, S. Benedetti, O. Mecarelli, 2015, Journal of Molecular Neuroscience.

Retrovirus-mediated IL-4 gene therapy in spontaneous adenocarcinomas from MMTV-neu transgenic mice

A. Villa, G. Finocchiaro, E. Scanziani, 1999, Gene Therapy.

Association of Syndromic Mental Retardation and Autism with 22q11.2 Duplication

S. Benedetti, P. Curatolo, A. Nardone, 2009, Neuropediatrics.

Intra‐arterial transplantation of HLA‐matched donor mesoangioblasts in Duchenne muscular dystrophy

M. Sormani, S. Benedetti, A. Tettamanti, 2015, EMBO molecular medicine.

Corrigendum: Efficient derivation and inducible differentiation of expandable skeletal myogenic cells from human ES and patient-specific iPS cells

S. Benedetti, S. Dastidar, M. Loperfido, 2015, Nature Protocols.

Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy.

L. Cooper, S. Rizzo, M. De Gaspari, 2022, JACC. Clinical electrophysiology.

Gene and cell therapies for muscular dystrophies

S. Benedetti, G. Cossu, Francesco Saverio Tedesco, 2015 .

Repair or replace? Exploiting novel gene and cell therapy strategies for muscular dystrophies

S. Benedetti, Francesco Saverio Tedesco, H. Hoshiya, 2013, The FEBS journal.

In vitro and in vivo effects of retrovirus-mediated transfer of the connexin 43 gene in malignant gliomas: consequences for HSVtk/GCV anticancer gene therapy

G. Finocchiaro, H. Yamasaki, S. Benedetti, 1998, Gene Therapy.

Gene therapy of experimental brain tumors using neural progenitor cells

G. Finocchiaro, B. Pollo, R. Galli, 2000, Nature Medicine.

Dexamethasone inhibits the anti-tumor effect of interleukin 4 on rat experimental gliomas

G. Finocchiaro, B. Pollo, S. Benedetti, 2003, Gene Therapy.

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

Roberta Bordoni, Gianluca De Bellis, Laura Cremonesi, 2008, BMC Genomics.

Deletion and transfection analysis of the p15/MTS2 gene in malignant gliomas.

G. Finocchiaro, S. Benedetti, M. Tenan, 1995, Biochemical and biophysical research communications.

Eradication of rat malignant gliomas by retroviral-mediated, in vivo delivery of the interleukin 4 gene.

M. Colombo, F. DiMeco, G. Finocchiaro, 1999, Cancer research.

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

S. Severi, C. Pappone, C. Di Resta, 2011, Cardiovascular research.

Mesoangioblasts at 20: From the embryonic aorta to the patient bed

C. Gargioli, R. Scardigli, S. Benedetti, 2023, Frontiers in Genetics.

In vivo generation of a mature and functional artificial skeletal muscle

C. Bearzi, C. Gargioli, R. Rizzi, 2015, EMBO molecular medicine.

Laminopathies: from the heart of the cell to the clinics

S. Benedetti, L. Merlini, 2004, Current opinion in neurology.

Skewed X‐chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

S. Bione, S. Benedetti, M. Ferrari, 2006, American journal of medical genetics. Part A.

Vascular growth factors play critical roles in kidney glomeruli.

A. Woolf, S. Benedetti, L. Gnudi, 2015, Clinical science.

Targeting endothelial junctional adhesion molecule-A/ EPAC/ Rap-1 axis as a novel strategy to increase stem cell engraftment in dystrophic muscles

M. Corada, F. Orsenigo, E. Dejana, 2013, EMBO molecular medicine.

Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease

C. Di Resta, S. Benedetti, M. Ferrari, 2018, Nucleus.

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

V. Santinelli, C. Pappone, G. Vicedomini, 2019, Front. Physiol..

Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants.

V. Santinelli, C. Pappone, G. Vicedomini, 2019, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

V. Santinelli, C. Pappone, G. Vicedomini, 2019, Front. Genet..

IL-4 gene transfer for the treatment of experimental gliomas.

F. Di Meco, M. Colombo, G. Finocchiaro, 1998, Advances in experimental medicine and biology.

Dll4 and PDGF-BB convert committed skeletal myoblasts to pericytes without erasing their myogenic memory.

M. Lampugnani, S. Benedetti, O. Cappellari, 2013, Developmental cell.

Combined Notch and PDGF Signaling Enhances Migration and Expression of Stem Cell Markers while Inducing Perivascular Cell Features in Muscle Satellite Cells

S. Benedetti, P. de Coppi, G. Cossu, 2019, Stem cell reports.

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.

C. Di Resta, S. Benedetti, M. Ferrari, 2019, Human molecular genetics.

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

E. Bertini, G. Comi, C. Angelini, 2005, Journal of Neurology, Neurosurgery & Psychiatry.