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List of works by Massimiliano Mirabella

A Case of Hemiabdominal Myoclonus

scientific article

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

scientific article published on 25 January 2019

A unique case of multiphasic ADEM or what else?

scientific article published on 20 July 2019

Abortion induces reactivation of inflammation in relapsing-remitting multiple sclerosis

scientific article published on 03 July 2018

Acyclovir-related kidney injury during alemtuzumab infusion

scientific article published on 03 June 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.

scientific article published on April 2000

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

scientific article published in January 2008

An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection

scientific article

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

scientific article published on 01 July 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.

scientific article published in April 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.

scientific article

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

scientific article published in PLoS ONE

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

scientific article published on 03 December 2013

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

scientific article published on 6 October 2009

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

scientific article

Cervical cord dysfunction during neck flexion in Hirayama's disease

scientific article published on 01 June 2003

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy

scientific article published on 01 January 2007

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

scientific article published on 12 October 2013

Clinical characteristics, course and prognosis of spinal multiple sclerosis.

scientific article

Coeliac disease presenting with acute disseminated encephalomyelitis

scientific article published on 01 February 2006

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

scientific article published on 01 August 2001

Constitutive activation of MAPK cascade in acute quadriplegic myopathy.

scientific article published on February 2004

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

scientific article published on 21 February 2019

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

scientific article published on 01 April 2001

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

scientific article published on 12 January 2016

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles ⬇️

scientific article published on June 13, 2012

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

scientific article

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

scientific article published on 09 May 2016

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

scientific article published on 21 April 2005

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

scientific article published on 31 March 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

scientific article published on 06 June 2018

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

scientific article published on 15 November 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.

scientific article published in August 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

scientific article (publication date: April 2015)

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

scientific article published on 14 September 2008

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

scientific article published on 09 August 2017

Idiopathic inflammatory myopathies evaluated by near-infrared spectroscopy

scientific article published on 24 April 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.

scientific article

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

scientific article published on 26 September 2008

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

scientific article

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

scientific article published on 18 January 2006

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

scientific article

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.

scientific article

Liver injury after pulsed methylprednisolone therapy in multiple sclerosis patients.

scientific article published on 4 May 2018

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

scientific article published in May 2017

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

scientific article published on 27 January 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

scientific article published on 01 March 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

scientific article published on 02 October 2010

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

scientific article

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.

scientific article published on 2 November 2011

Muscle MRI in female carriers of dystrophinopathy.

scientific article published on 15 May 2012

Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis

scientific article

Muscle imaging findings in GNE myopathy.

scientific article published on 10 January 2012

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

scientific article published on 11 July 2013

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

scholarly article

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

scientific article published on 01 March 2006

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

scientific article published on 9 January 2006

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

scientific article published on August 2005

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

scientific article published on 01 June 2004

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

scientific article published in November 2017

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

scientific article published on 20 March 2015

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

scientific article published on 01 June 1994

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

scientific article published in July 2017

Pilot trial of phenylbutyrate in spinal muscular atrophy

scientific article

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

scientific article published on 22 June 2011

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

scientific article published on 7 June 2018

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

scientific article published on February 2001

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

scientific article published on 17 February 2016

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

scientific article

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

scientific article published on 9 May 2009

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

scientific article published on 18 September 2013

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

scientific article published on 22 November 2016

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

scientific article published on 07 November 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.

scientific article published on 24 December 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

scientific article published on 01 October 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).

scientific article

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

scientific article

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.

scientific article published on 30 August 2013

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

scientific article published on 11 June 2016

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

scientific article

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

scientific article

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

scientific article published in September 2014

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

scientific article published on 11 April 2013

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

scientific article published on 22 January 2018

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

scientific article published on 9 December 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

scientific article published on 04 February 2012

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

scientific article (publication date: 2008)

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

scientific article published on 2 March 2018

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

scientific article published on 01 April 1999

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

scientific article published on 29 September 2007

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

scientific article published on 30 July 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

scientific article

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

scientific article published on 01 July 2012

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

scientific article

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

scientific article

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

scientific article published in March 1996

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

scientific article published on 10 December 2004

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