Lista de obras - Massimiliano Mirabella - Dominio Público Uruguay

A Case of Hemiabdominal Myoclonus

artículo científico publicado en 2014

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

artículo científico publicado en 2019

A unique case of multiphasic ADEM or what else?

artículo científico publicado en 2019

Abortion induces reactivation of inflammation in relapsing-remitting multiple sclerosis

artículo científico publicado en 2018

Acyclovir-related kidney injury during alemtuzumab infusion

artículo científico publicado en 2015

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

scientific journal article

An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1.

artículo científico publicado en 2000

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

artículo científico publicado en 2008

An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection

artículo científico publicado en 2015

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

artículo científico publicado en 2010

Apolipoprotein E immunoreactive deposits in inclusion-body muscle diseases

scientific article published on 01 February 1994

Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.

artículo científico publicado en 2001

Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism

scientific article published on 01 January 2000

Apoptotic features accompany acute quadriplegic myopathy

scientific article published on 01 September 2000

Association study reveals novel risk loci for sporadic inclusion body myositis.

artículo científico publicado en 2017

Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients

article published in 2013

BDNF rs6265 polymorphism methylation in Multiple Sclerosis: A possible marker of disease progression

artículo científico publicado en 2018

Blepharoptosis onset after topical prostaglandin therapy for glaucoma

scientific article published on 19 June 2015

CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI

scientific article published on 10 November 2010

Cardiovascular autonomic individual profile of relapsing-remitting multiple sclerosis patients and risk of extending cardiac monitoring after first dose fingolimod

scientific article published on 08 August 2019

Case of postpartum Parsonage-Turner syndrome

artículo científico publicado en 2013

Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.

artículo científico publicado en 2009

Cerebellar degeneration associated with mGluR1 autoantibodies as a paraneoplastic manifestation of prostate adenocarcinoma.

artículo científico publicado en 2013

Cervical cord dysfunction during neck flexion in Hirayama's disease

artículo científico publicado en 2003

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy

artículo científico publicado en 2007

Circulating CD56dim NK cells expressing perforin are increased in progressive multiple sclerosis.

artículo científico publicado en 2013

Clinical characteristics, course and prognosis of spinal multiple sclerosis.

artículo científico publicado en 2005

Coeliac disease presenting with acute disseminated encephalomyelitis

artículo científico publicado en 2006

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

artículo científico publicado en 2001

Constitutive activation of MAPK cascade in acute quadriplegic myopathy.

artículo científico publicado en 2004

Correction: BDNF rs6265 polymorphism methylation in Multiple Sclerosis: A possible marker of disease progression

artículo científico publicado en 2019

Deletion polymorphism of DNASE1L1, an X-linked DNase I-like gene, in acid maltase deficiency disorders

artículo científico publicado en 2001

Depression in multiple sclerosis: effect of brain derived neurotrophic factor Val66Met polymorphism and disease perception.

artículo científico publicado en 2016

Distinctive clinical and neuroimaging characteristics of longitudinally extensive transverse myelitis associated with aquaporin-4 autoantibodies.

artículo científico publicado en 2013

Drug Holiday of Interferon Beta 1b in Multiple Sclerosis: A Pilot, Randomized, Single Blind Study of Non-inferiority

scientific article published on 16 July 2019

Efficacy and safety of cannabinoid oromucosal spray for multiple sclerosis spasticity

artículo científico publicado en 2016

Evidence of involvement of leptin and IL-6 peptides in the action of interferon-beta in secondary progressive multiple sclerosis

artículo científico publicado en 2005

Expression Profile of Long Non-Coding RNAs in Serum of Patients with Multiple Sclerosis.

artículo científico publicado en 2016

Extending the Interval of Natalizumab Dosing: Is Efficacy Preserved?

scientific article published on 01 January 2020

Fingolimod vs dimethyl fumarate in multiple sclerosis: A real-world propensity score-matched study

artículo científico publicado en 2018

Focal muscle vibration, an effective rehabilitative approach in severe gait impairment due to multiple sclerosis

artículo científico publicado en 2016

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

article

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

artículo científico publicado en 1998

Glucocorticoid treatment reduces T-bet and pSTAT1 expression in mononuclear cells from relapsing remitting multiple sclerosis patients

scientific article published on 12 July 2007

Hereditary inclusion-body myopathies

artículo científico publicado en 2015

IL17 and IFNgamma production by peripheral blood mononuclear cells from clinically isolated syndrome to secondary progressive multiple sclerosis

artículo científico publicado en 2008

Identifying Relapses in Multiple Sclerosis Patients through Administrative Data: A Validation Study in the Lazio Region, Italy.

artículo científico

Idiopathic inflammatory myopathies evaluated by near-infrared spectroscopy

artículo científico publicado en 2015

In vivo effects of mitoxantrone on the production of pro- and anti-inflammatory cytokines by peripheral blood mononuclear cells of secondary progressive multiple sclerosis patients.

artículo científico publicado en 2006

Increased aging in primary muscle cultures of sporadic inclusion-body myositis.

artículo científico publicado en 2008

Insulin-like growth factor I in inclusion-body myositis and human muscle cultures.

artículo científico publicado en 2004

Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study

artículo científico publicado en 2006

Intravascular large B-cell lymphoma presenting as slowly progressive paraparesis with normal MRI features

artículo científico publicado en 2011

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

scientific article published on 30 August 2007

Leptin as a marker of multiple sclerosis activity in patients treated with interferon-beta

scientific article published on 01 June 2003

Leptin enhances the release of cytokines by peripheral blood mononuclear cells from relapsing multiple sclerosis patients.

artículo científico publicado en 2004

Liver injury after pulsed methylprednisolone therapy in multiple sclerosis patients.

artículo científico publicado en 2018

Low reliability of anti-KIR4.183-120 peptide auto-antibodies in multiple sclerosis patients.

artículo científico publicado en 2017

Lower motor neuron involvement in longitudinally extensive transverse myelitis with and without aquaporin-4 antibodies

artículo científico publicado en 2014

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

scientific article published on 31 August 2015

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

artículo científico publicado en 1993

Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior

scientific article published on 22 December 2010

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

artículo científico publicado en 2010

Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders.

artículo científico publicado en 1999

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

Moving to fingolimod from natalizumab in multiple sclerosis: the ENIGM is not solved

Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.

artículo científico publicado en 2011

Muscle MRI in female carriers of dystrophinopathy.

artículo científico publicado en 2012

Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis

artículo científico publicado en 2014

Muscle imaging findings in GNE myopathy.

artículo científico publicado en 2012

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

artículo científico publicado en 2013

MyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle.

artículo científico publicado en 2006

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

artículo científico publicado en 2006

Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.

artículo científico publicado en 2006

Neurotrophic factors and clinical recovery in relapsing-remitting multiple sclerosis.

artículo científico publicado en 2005

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

artículo científico publicado en 2004

Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous Mitogens.

artículo científico publicado en 2017

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

artículo científico publicado en 2015

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

artículo científico publicado en 1994

Personalized, bilateral whole-body somatosensory cortex stimulation to relieve fatigue in multiple sclerosis.

artículo científico publicado en 2017

Pilot trial of phenylbutyrate in spinal muscular atrophy

artículo científico publicado en 2004

Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.

artículo científico publicado en 2011

Potential Effect of Cyclophosphamide on Bleb Survival in Five Patients with Multiple Sclerosis Who Underwent Glaucoma Surgery.

artículo científico publicado en 2018

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

artículo científico publicado en 2001

Prevalence of multiple sclerosis in the Lazio region, Italy: use of an algorithm based on health information systems

artículo científico publicado en 2016

Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations

artículo científico publicado en 2015

Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.

artículo científico publicado en 2009

Rasmussen encephalitis: an unusual cause for intractable seizures in elderly.

artículo científico publicado en 2013

Real-world effectiveness of natalizumab and fingolimod compared with self-injectable drugs in non-responders and in treatment-naïve patients with multiple sclerosis.

artículo científico publicado en 2016

Regulatory T cells fail to suppress CD4T+-bet+ T cells in relapsing multiple sclerosis patients

artículo científico publicado en 2008

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

article

Response to the letter to the Editor for the manuscript "Sleep and Fatigue in Multiple Sclerosis: A questionnaire-based, cross-sectional, cohort study" by Tomoyuki Kawada.

artículo científico publicado en 2016

Rituximab as a first-line treatment in pediatric neuromyelitis optica spectrum disorder

scientific article published on 21 August 2015

Safety and Efficacy of Dimethyl Fumarate in Multiple Sclerosis: An Italian, Multicenter, Real-World Study

artículo científico publicado en 2018

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

scientific article published on 01 September 2019

Sativex in resistant multiple sclerosis spasticity: Discontinuation study in a large population of Italian patients (SA.FE. study).

artículo científico publicado en 2017

Sativex® effects on promoter methylation and on CNR1/CNR2 expression in peripheral blood mononuclear cells of progressive multiple sclerosis patients

artículo científico publicado en 2017

Second-line therapy with fingolimod for relapsing-remitting multiple sclerosis in clinical practice: the effect of previous exposure to natalizumab

scientific article published on 07 November 2014

Serum levels of anti-myelin antibodies in relapsing-remitting multiple sclerosis patients during different phases of disease activity and immunomodulatory therapy.

scientific article published on January 2005

Severe disability in patients with relapsing-remitting multiple sclerosis is associated with profound changes in the regulation of leptin secretion.

artículo científico publicado en 2013

Severe dyspnoea with alteration of the diffusion capacity of the lung associated with fingolimod treatment.

artículo científico publicado en 2016

Skeletal muscle apoptosis is not increased in gastric cancer patients with mild-moderate weight loss.

artículo científico publicado en 2006

Sleep and fatigue in multiple sclerosis: A questionnaire-based, cross-sectional, cohort study.

artículo científico publicado en 2016

Sleep disorder associated with antibodies to IgLON5: parasomnia or agrypnia?

artículo científico publicado en 2014

Sleep disordered breathing in a cohort of patients with sporadic inclusion body myositis.

artículo científico publicado en 2013

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

artículo científico publicado en 2018

Systematic assessment and characterization of chronic pain in multiple sclerosis patients.

artículo científico publicado en 2017

T-bet, pSTAT1 and pSTAT3 expression in peripheral blood mononuclear cells during pregnancy correlates with post-partum activation of multiple sclerosis

scientific article published on 21 December 2008

TWEAK in inclusion-body myositis muscle: possible pathogenic role of a cytokine inhibiting myogenesis

artículo científico publicado en 2012

The ER-bound RING finger protein 5 (RNF5/RMA1) causes degenerative myopathy in transgenic mice and is deregulated in inclusion body myositis

artículo científico publicado en 2008

The Prevalence of Multiple Sclerosis in the Metropolitan Area of Rome: A Capture-Recapture Analysis.

artículo científico publicado en 2018

The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription

artículo científico publicado en 1999

The effect of disease activity on leptin, leptin receptor and suppressor of cytokine signalling-3 expression in relapsing-remitting multiple sclerosis

artículo científico publicado en 2007

The influence of physiotherapy intervention on patients with multiple sclerosis-related spasticity treated with nabiximols (THC:CBD oromucosal spray)

artículo científico publicado en 2019

The persistency of high levels of pSTAT3 expression in circulating CD4+ T cells from CIS patients favors the early conversion to clinically defined multiple sclerosis

artículo científico publicado en 2008

The recovery of platelet cyclooxygenase activity explains interindividual variability in responsiveness to low-dose aspirin in patients with and without diabetes

artículo científico publicado en 2012

Transient hair loss during treatment with dimethyl-fumarate for multiple sclerosis.

artículo científico publicado en 2016

Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy

artículo científico publicado en 2003

Use of anti-neurofilament antibody to identify paired-helical filaments in inclusion-body myositis.

artículo científico publicado en 1996

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy

artículo científico publicado en 2004

Lista de obras de Massimiliano Mirabella

A Case of Hemiabdominal Myoclonus

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

A unique case of multiphasic ADEM or what else?

Abortion induces reactivation of inflammation in relapsing-remitting multiple sclerosis

Acyclovir-related kidney injury during alemtuzumab infusion

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1.

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

Apolipoprotein E immunoreactive deposits in inclusion-body muscle diseases

Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.

Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism

Apoptotic features accompany acute quadriplegic myopathy

Association study reveals novel risk loci for sporadic inclusion body myositis.

Atrophy, Fibrosis, and Increased PAX7-Positive Cells in Pharyngeal Muscles of Oculopharyngeal Muscular Dystrophy Patients

BDNF rs6265 polymorphism methylation in Multiple Sclerosis: A possible marker of disease progression

Blepharoptosis onset after topical prostaglandin therapy for glaucoma

CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI

Cardiovascular autonomic individual profile of relapsing-remitting multiple sclerosis patients and risk of extending cardiac monitoring after first dose fingolimod

Case of postpartum Parsonage-Turner syndrome

Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.

Cerebellar degeneration associated with mGluR1 autoantibodies as a paraneoplastic manifestation of prostate adenocarcinoma.

Cervical cord dysfunction during neck flexion in Hirayama's disease

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy

Circulating CD56dim NK cells expressing perforin are increased in progressive multiple sclerosis.

Clinical characteristics, course and prognosis of spinal multiple sclerosis.

Coeliac disease presenting with acute disseminated encephalomyelitis

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

Constitutive activation of MAPK cascade in acute quadriplegic myopathy.

Correction: BDNF rs6265 polymorphism methylation in Multiple Sclerosis: A possible marker of disease progression

Deletion polymorphism of DNASE1L1, an X-linked DNase I-like gene, in acid maltase deficiency disorders

Depression in multiple sclerosis: effect of brain derived neurotrophic factor Val66Met polymorphism and disease perception.

Distinctive clinical and neuroimaging characteristics of longitudinally extensive transverse myelitis associated with aquaporin-4 autoantibodies.

Drug Holiday of Interferon Beta 1b in Multiple Sclerosis: A Pilot, Randomized, Single Blind Study of Non-inferiority

Efficacy and safety of cannabinoid oromucosal spray for multiple sclerosis spasticity

Evidence of involvement of leptin and IL-6 peptides in the action of interferon-beta in secondary progressive multiple sclerosis

Expression Profile of Long Non-Coding RNAs in Serum of Patients with Multiple Sclerosis.

Extending the Interval of Natalizumab Dosing: Is Efficacy Preserved?

Fingolimod vs dimethyl fumarate in multiple sclerosis: A real-world propensity score-matched study

Focal muscle vibration, an effective rehabilitative approach in severe gait impairment due to multiple sclerosis

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

Glucocorticoid treatment reduces T-bet and pSTAT1 expression in mononuclear cells from relapsing remitting multiple sclerosis patients

Hereditary inclusion-body myopathies

IL17 and IFNgamma production by peripheral blood mononuclear cells from clinically isolated syndrome to secondary progressive multiple sclerosis

Identifying Relapses in Multiple Sclerosis Patients through Administrative Data: A Validation Study in the Lazio Region, Italy.

Idiopathic inflammatory myopathies evaluated by near-infrared spectroscopy

In vivo effects of mitoxantrone on the production of pro- and anti-inflammatory cytokines by peripheral blood mononuclear cells of secondary progressive multiple sclerosis patients.

Increased aging in primary muscle cultures of sporadic inclusion-body myositis.

Insulin-like growth factor I in inclusion-body myositis and human muscle cultures.

Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study

Intravascular large B-cell lymphoma presenting as slowly progressive paraparesis with normal MRI features

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

Leptin as a marker of multiple sclerosis activity in patients treated with interferon-beta

Leptin enhances the release of cytokines by peripheral blood mononuclear cells from relapsing multiple sclerosis patients.

Liver injury after pulsed methylprednisolone therapy in multiple sclerosis patients.

Low reliability of anti-KIR4.183-120 peptide auto-antibodies in multiple sclerosis patients.

Lower motor neuron involvement in longitudinally extensive transverse myelitis with and without aquaporin-4 antibodies

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders.

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

Moving to fingolimod from natalizumab in multiple sclerosis: the ENIGM is not solved

Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation.

Muscle MRI in female carriers of dystrophinopathy.

Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis

Muscle imaging findings in GNE myopathy.

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

MyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle.

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.

Neurotrophic factors and clinical recovery in relapsing-remitting multiple sclerosis.

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous Mitogens.

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name