Lista de obras - Lorenzo Maggi - Dominio Público Uruguay

A New Thiopurine S-Methyltransferase Haplotype Associated With Intolerance to Azathioprine

artículo científico publicado en 2013

A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.

artículo científico publicado en 2016

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

artículo científico publicado en 2016

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients.

artículo científico publicado en 2015

Biologics, colchicine, corticosteroids, immunosuppressants and interferon-alpha for Neuro-Behçet's Syndrome

artículo científico publicado en 2014

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

article

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

artículo científico publicado en 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

artículo científico publicado en 2013

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

artículo científico publicado en 2015

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

artículo científico publicado en 2016

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

artículo científico publicado en 2017

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

artículo científico publicado en 2015

Complete stable remission and autoantibody specificity in myasthenia gravis

artículo científico publicado en 2012

Concordance between severity of disease, disability and health-related quality of life in Myasthenia gravis

article

Congenital myopathies: Natural history of a large pediatric cohort

artículo científico publicado en 2014

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

artículo científico publicado en 2020

Detection of poliovirus-infected macrophages in thymus of patients with myasthenia gravis.

artículo científico publicado en 2010

Development of the MG-DIS: an ICF-based disability assessment instrument for myasthenia gravis

artículo científico

Disability and functional profiles of patients with myasthenia gravis measured with ICF classification.

artículo científico publicado en 2009

Effect of IgG immunoadsorption on serum cytokines in MG and LEMS patients

scientific article published on 21 July 2008

Emerging perspectives on laminopathies

Epstein-Barr virus in tumor-infiltrating B cells of myasthenia gravis thymoma: an innocent bystander or an autoimmunity mediator?

artículo científico publicado en 2017

Epstein-Barr virus persistence and reactivation in myasthenia gravis thymus

artículo científico publicado en 2010

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability

artículo científico publicado en 2009

ICF in neurology: functioning and disability in patients with migraine, myasthenia gravis and Parkinson's disease.

artículo científico publicado en 2009

Identification of international classification of functioning, disability and health relevant categories to describe functioning and disability of patients with myasthenia gravis.

artículo científico publicado en 2009

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

artículo científico publicado en 2010

Increased expression of Toll-like receptors 7 and 9 in myasthenia gravis thymus characterized by active Epstein-Barr virus infection.

artículo científico publicado en 2015

Inflammation and epstein-barr virus infection are common features of myasthenia gravis thymus: possible roles in pathogenesis.

artículo científico

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

artículo científico publicado en 2020

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

artículo científico publicado en 2014

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

artículo científico publicado en 2017

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

artículo científico publicado en 2016

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

artículo científico publicado en 2013

Monomelic amyotrophy in cervical myelopathy associated with anterior dural sac displacement induced by neck flexion

scientific article published on 05 March 2016

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

artículo científico publicado en 2016

Muscle MRI findings in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2015

Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

artículo científico publicado en 2017

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

artículo científico publicado en 2015

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

artículo científico publicado en 2016

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

scientific article published on 11 September 2020

Percutaneous vertebroplasty in a series of myasthenic patients with steroid-induced symptomatic vertebral fractures.

artículo científico publicado en 2013

Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy

scientific article published on 23 January 2020

Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al

artículo científico publicado en 2017

Salbutamol as effective treatment in slow-channel syndrome- first report

artículo científico publicado en 2020

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016

The relationship between health, disability and quality of life in myasthenia gravis: results from an Italian study

artículo científico publicado en 2009

The thymus in myasthenia gravis: Site of "innate autoimmunity"?

artículo científico

Thymoma-associated myasthenia gravis: Outcome, clinical and pathological correlations in 197 patients on a 20-year experience

artículo científico publicado en 2008

Toll-like receptors 7 and 9 in myasthenia gravis thymus: amplifiers of autoimmunity?

artículo científico publicado en 2018

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

artículo científico publicado en 2017

Treatment of myasthenia gravis: focus on pyridostigmine.

artículo científico

Validation of the Besta Neurological Institute rating scale for myasthenia gravis

artículo científico publicado en 2015

Validation of the MG-DIS: a disability assessment for myasthenia gravis

artículo científico publicado en 2016

Validation of the italian version of the 15-item Myasthenia Gravis Quality-of-Life questionnaire

artículo científico publicado en 2016

Validity, reliability, and sensitivity to change of the myasthenia gravis activities of daily living profile in a sample of Italian myasthenic patients

artículo científico publicado en 2017

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

artículo científico publicado en 2016

Lista de obras de Lorenzo Maggi

A New Thiopurine S-Methyltransferase Haplotype Associated With Intolerance to Azathioprine

A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients.

Biologics, colchicine, corticosteroids, immunosuppressants and interferon-alpha for Neuro-Behçet's Syndrome

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Complete stable remission and autoantibody specificity in myasthenia gravis

Concordance between severity of disease, disability and health-related quality of life in Myasthenia gravis

Congenital myopathies: Natural history of a large pediatric cohort

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Detection of poliovirus-infected macrophages in thymus of patients with myasthenia gravis.

Development of the MG-DIS: an ICF-based disability assessment instrument for myasthenia gravis

Disability and functional profiles of patients with myasthenia gravis measured with ICF classification.

Effect of IgG immunoadsorption on serum cytokines in MG and LEMS patients

Emerging perspectives on laminopathies

Epstein-Barr virus in tumor-infiltrating B cells of myasthenia gravis thymoma: an innocent bystander or an autoimmunity mediator?

Epstein-Barr virus persistence and reactivation in myasthenia gravis thymus

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability

ICF in neurology: functioning and disability in patients with migraine, myasthenia gravis and Parkinson's disease.

Identification of international classification of functioning, disability and health relevant categories to describe functioning and disability of patients with myasthenia gravis.

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

Increased expression of Toll-like receptors 7 and 9 in myasthenia gravis thymus characterized by active Epstein-Barr virus infection.

Inflammation and epstein-barr virus infection are common features of myasthenia gravis thymus: possible roles in pathogenesis.

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

MRI in sarcoglycanopathies: a large international cohort study.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Monomelic amyotrophy in cervical myelopathy associated with anterior dural sac displacement induced by neck flexion

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

Muscle MRI findings in facioscapulohumeral muscular dystrophy

Muscle MRI in neutral lipid storage disease (NLSD).

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Percutaneous vertebroplasty in a series of myasthenic patients with steroid-induced symptomatic vertebral fractures.

Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy

Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al

Salbutamol as effective treatment in slow-channel syndrome- first report

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

The relationship between health, disability and quality of life in myasthenia gravis: results from an Italian study

The thymus in myasthenia gravis: Site of "innate autoimmunity"?

Thymoma-associated myasthenia gravis: Outcome, clinical and pathological correlations in 197 patients on a 20-year experience

Toll-like receptors 7 and 9 in myasthenia gravis thymus: amplifiers of autoimmunity?

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Treatment of myasthenia gravis: focus on pyridostigmine.

Validation of the Besta Neurological Institute rating scale for myasthenia gravis

Validation of the MG-DIS: a disability assessment for myasthenia gravis

Validation of the italian version of the 15-item Myasthenia Gravis Quality-of-Life questionnaire

Validity, reliability, and sensitivity to change of the myasthenia gravis activities of daily living profile in a sample of Italian myasthenic patients

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases