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

The FEBS journal, 2013-09, Vol.280 (17), p.4263-4280

2013

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

Nature protocols, 2015-07, Vol.10 (7), p.941-958

2015

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

Human molecular genetics, 2020-01, Vol.29 (2), p.177-188

2020

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Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis

International journal of molecular sciences, 2022-11, Vol.23 (21), p.13560

2022

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

EMBO molecular medicine, 2022-10, Vol.14 (10), p.e14526-n/a

2022

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Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells

International journal of molecular sciences, 2023-05, Vol.24 (11), p.9548

2023

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BNT162b2 Elicited an Efficient Humoral Response Against Different Strains of SARS-CoV-2 in People Living with HIV

Current HIV research, 2022-01, Vol.20 (4), p.296

2022

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

International journal of molecular sciences, 2021-04, Vol.22 (9), p.4700

2021

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Stem cell-mediated transfer of a human artificial chromosome ameliorates muscular dystrophy

Science translational medicine, 2011-08, Vol.3 (96), p.96ra78

2011

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Bictegravir/Tenofovir Alafenamide/Emtricitabine: A Real-Life Experience in People Living with HIV (PLWH)

Infectious disease reports, 2023-12, Vol.15 (6), p.766-777

2023

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

Stem cell reports, 2019-03, Vol.12 (3), p.461-473

2019

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

International journal of molecular sciences, 2020-08, Vol.21 (16), p.5902

2020

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

European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.911-917

2013

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

Genes, 2022-09, Vol.13 (10), p.1755

2022

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Delivery in Asymptomatic Italian Woman with SARS-CoV-2 Infection

Mediterranean journal of hematology and infectious diseases, 2020, Vol.12 (1), p.e2020033-e2020033

2020

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

EMBO molecular medicine, 2018-02, Vol.10 (2), p.254-275

2018

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

International journal of molecular sciences, 2019-10, Vol.20 (19), p.4920

2019

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Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots

Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101074-101074, Article 101074

2024

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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

Mediterranean journal of hematology and infectious diseases, 2022-07, Vol.14 (1), p.e2022050-e2022050

2022

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

Frontiers in genetics, 2023-01, Vol.13, p.1056114-1056114

2023

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

Frontiers in physiology, 2019-05, Vol.10, p.666

2019

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

Frontiers in genetics, 2019-02, Vol.10, p.50

2019

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

Frontiers in genetics, 2019-06, Vol.10, p.547-547

2019

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Reversible immortalisation, human artificial chromosomes, and induced pluripotency: new gene and cell therapy technologies for Duchenne muscular dystrophy

The Lancet (British edition), 2016-02, Vol.387, p.S98-S98

2016

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

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

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

Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis

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

Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells

BNT162b2 Elicited an Efficient Humoral Response Against Different Strains of SARS-CoV-2 in People Living with HIV

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

Stem cell-mediated transfer of a human artificial chromosome ameliorates muscular dystrophy

Bictegravir/Tenofovir Alafenamide/Emtricitabine: A Real-Life Experience in People Living with HIV (PLWH)

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

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

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

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

Delivery in Asymptomatic Italian Woman with SARS-CoV-2 Infection

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

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

Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots

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

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

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

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

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

Efficacy and Safety of Ceftazidime–Avibactam Alone versus Ceftazidime–Avibactam Plus Fosfomycin for the Treatment of Hospital-Acquired Pneumonia and Ventilator-Associated Pneumonia: A Multicentric Retrospective Study from the SUSANA Cohort

Reversible immortalisation, human artificial chromosomes, and induced pluripotency: new gene and cell therapy technologies for Duchenne muscular dystrophy

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