Lista de obras - Pia Bernasconi - Dominio Público Uruguay

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

artículo científico publicado en 2013

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

artículo científico publicado en 2013

A longitudinal DTI and histological study of the spinal cord reveals early pathological alterations in G93A-SOD1 mouse model of amyotrophic lateral sclerosis

artículo científico publicado en 2017

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

artículo científico publicado en 2016

A novel infection- and inflammation-associated molecular signature in peripheral blood of myasthenia gravis patients

artículo científico publicado en 2016

Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

artículo científico publicado en 2019

Allorecognition of human neural stem cells by peripheral blood lymphocytes despite low expression of MHC molecules: role of TGF-beta in modulating proliferation.

artículo científico publicado en 2007

Altered miRNA expression is associated with neuronal fate in G93A-SOD1 ependymal stem progenitor cells.

artículo científico publicado en 2013

Analysis of SjTREC levels in thymus from MG patients and normal children.

artículo científico publicado en 2003

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

artículo científico publicado en 2017

Anti-MOG autoantibodies in Italian multiple sclerosis patients: specificity, sensitivity and clinical association

artículo científico publicado en 2004

Antibodies against GluR3 peptides are not specific for Rasmussen's encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures

artículo científico publicado en 2002

Autoimmune Encephalitis and CSF Anti-GluR3 Antibodies in an MS Patient after Alemtuzumab Treatment

scientific article published on 30 October 2019

Autoimmune Frontotemporal Dementia: A New Nosological Entity?

artículo científico publicado en 2017

Autoimmune mechanisms in myasthenia gravis.

artículo científico

Autophagy, inflammation and innate immunity in inflammatory myopathies

artículo científico publicado en 2014

BDNF and its receptors in human myasthenic thymus: Implications for cell fate in thymic pathology

artículo científico publicado en 2008

Central core disease and susceptibility to malignant hyperthermia in a single family

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Comparison of Diffusion MRI Acquisition Protocols for the In Vivo Characterization of the Mouse Spinal Cord: Variability Analysis and Application to an Amyotrophic Lateral Sclerosis Model.

artículo científico publicado en 2016

Complete stable remission and autoantibody specificity in myasthenia gravis

artículo científico publicado en 2012

Correction: VAPB depletion alters neuritogenesis and phosphoinositide balance in motoneuron-like cells: relevance to VAPB-linked amyotrophic lateral sclerosis (doi:10.1242/jcs.220061)

scientific article published on 19 June 2019

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

artículo científico publicado en 2020

DMD and BMD in the same family due to two distinct mutations

artículo científico publicado en 1995

Decorin and biglycan expression is differentially altered in several muscular dystrophies.

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

artículo científico publicado en 1995

Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes.

artículo científico publicado en 2018

Epstein-Barr virus in myasthenia gravis thymus: a matter of debate

artículo científico publicado en 2011

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

Etiology of myasthenia gravis: innate immunity signature in pathological thymus

artículo científico publicado en 2013

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

artículo científico publicado en 2018

Expression of transforming growth factor-beta1 in thymus of myasthenia gravis patients: correlation with pathological abnormalities.

artículo científico publicado en 2003

FM19G11-Loaded Gold Nanoparticles Enhance the Proliferation and Self-Renewal of Ependymal Stem Progenitor Cells Derived from ALS Mice

artículo científico publicado en 2019

Fibrogenic cytokines and extent of fibrosis in muscle of dogs with X-linked golden retriever muscular dystrophy

artículo científico publicado en 2002

Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.

artículo científico publicado en 2014

Hind limb muscle atrophy precedes cerebral neuronal degeneration in G93A-SOD1 mouse model of amyotrophic lateral sclerosis: A longitudinal MRI study

scientific article published on 14 May 2011

Human adult skeletal muscle stem cells differentiate into cardiomyocyte phenotype in vitro.

artículo científico publicado en 2007

Hyperexcitability in Cultured Cortical Neuron Networks from the G93A-SOD1 Amyotrophic Lateral Sclerosis Model Mouse and its Molecular Correlates.

artículo científico publicado en 2019

Identification of a gene expression signature in peripheral blood of multiple sclerosis patients treated with disease-modifying therapies

artículo científico publicado en 2016

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

Immunomodulation of TGF-beta1 in mdx mouse inhibits connective tissue proliferation in diaphragm but increases inflammatory response: Implications for antifibrotic therapy

artículo científico publicado en 2006

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

Increased toll-like receptor 4 expression in thymus of myasthenic patients with thymitis and thymic involution.

artículo científico publicado en 2005

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

artículo científico

Inflammatory myopathies and systemic disorders: a review of immunopathogenetic mechanisms and clinical features.

artículo científico publicado en 1997

Innate immunity in myasthenia gravis thymus: Pathogenic effects of Toll-like receptor 4 signaling on autoimmunity

artículo científico publicado en 2014

Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition

artículo científico publicado en 2016

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer

artículo científico publicado en 1995

Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome

scientific article published on 10 October 2013

Major histocompatibility complex class II molecule expression on muscle cells is regulated by differentiation: implications for the immunopathogenesis of muscle autoimmune diseases

artículo científico publicado en 1996

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

artículo científico publicado en 2013

MicroRNA signature associated with treatment response in myasthenia gravis: A further step towards precision medicine

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Myasthenia gravis (MG): epidemiological data and prognostic factors

artículo científico publicado en 2003

Myasthenia gravis remission and anti-AChR ab reduction after immunosuppressive and anti-neoplastic therapy in a patient with thymic Hodgkin’s disease

artículo científico publicado en 2006

Myasthenia gravis: from autoantibodies to therapy

scientific article published on 01 October 2018

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 phenotype associated with a mutation in the KCNA1(Kv1.1) gene

artículo científico publicado en 2014

Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.

artículo científico publicado en 2011

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

artículo científico publicado en 2019

Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

artículo científico publicado en 2018

Rasmussen’s encephalitis: update on pathogenesis and treatment

artículo científico publicado en 2003

Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

scientific article published on 22 February 2009

T-Cell Infiltration in Polymyositis Is Characterized by Coexpression of Cytotoxic and T-Cell-Activating Cytokine Transcripts

artículo científico publicado en 1995

T-Cell Receptor-CDR3 Sequences of Polymyositis Muscle-Infiltrating T-Lymphocytes Indicate a Conventional Antigen as Target

artículo científico publicado en 1995

Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis

scientific article published on 01 February 2014

The Kinesin Superfamily Motor Protein KIF4 Is Associated With Immune Cell Activation in Idiopathic Inflammatory Myopathies

scientific article published on 01 June 2008

The empowerment of translational research: lessons from laminopathies.

artículo científico publicado en 2012

The expression of co-stimulatory and accessory molecules on cultured human muscle cells is not dependent on stimulus by pro-inflammatory cytokines: relevance for the pathogenesis of inflammatory myopathy

artículo científico publicado en 1998

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

artículo científico

Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndrome.

artículo científico publicado en 2019

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

Transforming growth factor-β1 and fibrosis in congenital muscular dystrophies

artículo científico publicado en 1999

Type I interferon and Toll-like receptor expression characterizes inflammatory myopathies.

artículo científico publicado en 2011

Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy

scientific article published on 01 December 2000

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

artículo científico publicado en 2018

Up-regulation of neural and cell cycle-related microRNAs in brain of amyotrophic lateral sclerosis mice at late disease stage

artículo científico publicado en 2015

VAPB depletion alters neuritogenesis and phosphoinositide balance in motoneuron-like cells: relevance to VAPB-linked amyotrophic lateral sclerosis

scientific article published on 03 April 2019

VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis

artículo científico publicado en 2014

Very small dystrophin molecule in a family with a mild form of Becker dystrophy

artículo científico publicado en 1993

Video-assisted thoracoscopic extended thymectomy and extended transsternal thymectomy (T-3b) in non-thymomatous myasthenia gravis patients: remission after 6 years of follow-up

artículo científico publicado en 2003

Lista de obras de Pia Bernasconi

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

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

A longitudinal DTI and histological study of the spinal cord reveals early pathological alterations in G93A-SOD1 mouse model of amyotrophic lateral sclerosis

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

A novel infection- and inflammation-associated molecular signature in peripheral blood of myasthenia gravis patients

Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

Allorecognition of human neural stem cells by peripheral blood lymphocytes despite low expression of MHC molecules: role of TGF-beta in modulating proliferation.

Altered miRNA expression is associated with neuronal fate in G93A-SOD1 ependymal stem progenitor cells.

Analysis of SjTREC levels in thymus from MG patients and normal children.

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

Anti-MOG autoantibodies in Italian multiple sclerosis patients: specificity, sensitivity and clinical association

Antibodies against GluR3 peptides are not specific for Rasmussen's encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures

Autoimmune Encephalitis and CSF Anti-GluR3 Antibodies in an MS Patient after Alemtuzumab Treatment

Autoimmune Frontotemporal Dementia: A New Nosological Entity?

Autoimmune mechanisms in myasthenia gravis.

Autophagy, inflammation and innate immunity in inflammatory myopathies

BDNF and its receptors in human myasthenic thymus: Implications for cell fate in thymic pathology

Central core disease and susceptibility to malignant hyperthermia in a single family

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

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

Comparison of Diffusion MRI Acquisition Protocols for the In Vivo Characterization of the Mouse Spinal Cord: Variability Analysis and Application to an Amyotrophic Lateral Sclerosis Model.

Complete stable remission and autoantibody specificity in myasthenia gravis

Correction: VAPB depletion alters neuritogenesis and phosphoinositide balance in motoneuron-like cells: relevance to VAPB-linked amyotrophic lateral sclerosis (doi:10.1242/jcs.220061)

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

DMD and BMD in the same family due to two distinct mutations

Decorin and biglycan expression is differentially altered in several muscular dystrophies.

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

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes.

Epstein-Barr virus in myasthenia gravis thymus: a matter of debate

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

Etiology of myasthenia gravis: innate immunity signature in pathological thymus

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

Expression of transforming growth factor-beta1 in thymus of myasthenia gravis patients: correlation with pathological abnormalities.

FM19G11-Loaded Gold Nanoparticles Enhance the Proliferation and Self-Renewal of Ependymal Stem Progenitor Cells Derived from ALS Mice

Fibrogenic cytokines and extent of fibrosis in muscle of dogs with X-linked golden retriever muscular dystrophy

Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.

Hind limb muscle atrophy precedes cerebral neuronal degeneration in G93A-SOD1 mouse model of amyotrophic lateral sclerosis: A longitudinal MRI study

Human adult skeletal muscle stem cells differentiate into cardiomyocyte phenotype in vitro.

Hyperexcitability in Cultured Cortical Neuron Networks from the G93A-SOD1 Amyotrophic Lateral Sclerosis Model Mouse and its Molecular Correlates.

Identification of a gene expression signature in peripheral blood of multiple sclerosis patients treated with disease-modifying therapies

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

Immunomodulation of TGF-beta1 in mdx mouse inhibits connective tissue proliferation in diaphragm but increases inflammatory response: Implications for antifibrotic therapy

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

Increased toll-like receptor 4 expression in thymus of myasthenic patients with thymitis and thymic involution.

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

Inflammatory myopathies and systemic disorders: a review of immunopathogenetic mechanisms and clinical features.

Innate immunity in myasthenia gravis thymus: Pathogenic effects of Toll-like receptor 4 signaling on autoimmunity

Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer

Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome

Major histocompatibility complex class II molecule expression on muscle cells is regulated by differentiation: implications for the immunopathogenesis of muscle autoimmune diseases

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

MicroRNA signature associated with treatment response in myasthenia gravis: A further step towards precision medicine

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

Myasthenia gravis (MG): epidemiological data and prognostic factors

Myasthenia gravis remission and anti-AChR ab reduction after immunosuppressive and anti-neoplastic therapy in a patient with thymic Hodgkin’s disease

Myasthenia gravis: from autoantibodies to therapy

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

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

Rasmussen’s encephalitis: update on pathogenesis and treatment

Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

T-Cell Infiltration in Polymyositis Is Characterized by Coexpression of Cytotoxic and T-Cell-Activating Cytokine Transcripts

T-Cell Receptor-CDR3 Sequences of Polymyositis Muscle-Infiltrating T-Lymphocytes Indicate a Conventional Antigen as Target

Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis

The Kinesin Superfamily Motor Protein KIF4 Is Associated With Immune Cell Activation in Idiopathic Inflammatory Myopathies

The empowerment of translational research: lessons from laminopathies.

The expression of co-stimulatory and accessory molecules on cultured human muscle cells is not dependent on stimulus by pro-inflammatory cytokines: relevance for the pathogenesis of inflammatory myopathy

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

Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndrome.

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.

Transforming growth factor-β1 and fibrosis in congenital muscular dystrophies