List of works - Mauro Monforte

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

scientific article published on 26 May 2010

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

scientific article published on February 2016

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

scientific article published on 10 November 2010

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

scientific article published on 22 October 2014

Case of postpartum Parsonage-Turner syndrome

scientific article published on 03 December 2013

Concentric muscle involvement in POLG -related distal myopathy

scientific article published on 07 March 2017

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

scientific article published on 13 March 2018

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

scientific article published on 09 July 2014

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

scientific article

Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.

scientific article

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

scientific article published on 31 August 2015

Matrin 3 variants are frequent in Italian ALS patients

scientific article published on 6 October 2016

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

scientific article published on 02 October 2010

Muscle MRI in Becker muscular dystrophy

scientific article published on 01 October 2012

Muscle MRI in female carriers of dystrophinopathy.

scientific article published on 15 May 2012

Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.

scientific article

Muscle cramps and weakness after teriparatide therapy: a new drug-induced myopathy?

scientific article published on 16 January 2013

Muscle imaging findings in GNE myopathy.

scientific article published on 10 January 2012

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

scientific article published on 17 July 2015

New phenotype and pathology features in MYH7-related distal myopathy

scientific article published on 20 April 2012

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

scientific article

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

scientific article published on 20 March 2015

Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients.

scientific article published on 25 August 2017

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis.

scientific article

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

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

scientific article published on 22 January 2018

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

scientific article

Teaching video neuroimages: complicated scapular winging

scientific article published in September 2013

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

To the Editor

scientific article published in February 2017

Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging

scientific article published on 30 October 2019

Tuberculous nephritis accompanying neuromyelitis optica: causal or coincidental association?

scientific article published on 27 March 2014

Upper girdle imaging in facioscapulohumeral muscular dystrophy

scientific article

List of works by Mauro Monforte

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

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

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

Case of postpartum Parsonage-Turner syndrome

Concentric muscle involvement in POLG -related distal myopathy

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

MRI in sarcoglycanopathies: a large international cohort study.

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

Matrin 3 variants are frequent in Italian ALS patients

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

Muscle MRI in Becker muscular dystrophy

Muscle MRI in female carriers of dystrophinopathy.

Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Muscle cramps and weakness after teriparatide therapy: a new drug-induced myopathy?

Muscle imaging findings in GNE myopathy.

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

New phenotype and pathology features in MYH7-related distal myopathy

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients.

Prevalence of congenital muscular dystrophy in Italy: a population study

Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis.

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

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

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

Teaching video neuroimages: complicated scapular winging

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

To the Editor

Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging

Tuberculous nephritis accompanying neuromyelitis optica: causal or coincidental association?

Upper girdle imaging in facioscapulohumeral muscular dystrophy