Lista de obras - Mauro Monforte - Dominio Público Uruguay

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

artículo científico publicado en 2010

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

artículo científico publicado en 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

artículo científico publicado en 2014

Case of postpartum Parsonage-Turner syndrome

artículo científico publicado en 2013

Concentric muscle involvement in POLG -related distal myopathy

scientific article published on 07 March 2017

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

artículo científico publicado el 13 de junio de 2012

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

artículo científico publicado en 2014

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Muscle MRI in Becker muscular dystrophy

artículo científico publicado en 2012

Muscle MRI in female carriers of dystrophinopathy.

artículo científico publicado en 2012

Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Muscle imaging findings in GNE myopathy.

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2012

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

artículo científico publicado en 2015

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

artículo científico

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Teaching video neuroimages: complicated scapular winging

artículo científico publicado en 2013

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

artículo científico publicado en 2016

To the Editor

artículo científico publicado en 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?

artículo científico publicado en 2014

Upper girdle imaging in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2014

Lista de obras de 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

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

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