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List of works by Enzo Ricci

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

scientific article published on 19 July 2013

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

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

scientific article published on 01 August 2010

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

scientific article published in June 2014

An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients ⬇️

scientific article published on October 20, 2011

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

scientific article published on June 2010

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

scientific article published on 01 July 2010

Autosomal recessive hypermyelinating neuropathy

scientific article published on 01 January 1994

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

scientific article published in January 2014

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

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

scientific article

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

scientific article published on 01 September 1990

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas

scientific article published on 20 February 2010

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

scientific article published on 6 October 2009

Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy.

scientific article

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

scientific article published on 23 January 2007

Coeliac disease presenting with acute disseminated encephalomyelitis

scientific article published on 01 February 2006

Congenital muscular dystrophies with cognitive impairment. A population study.

scientific article published in September 2010

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

scientific article (publication date: 26 May 2009)

Control of the upper body movements during level walking in patients with facioscapulohumeral dystrophy

scientific article published in January 2010

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

scientific article published on June 13, 2012

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

scientific article

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

scientific article published on 18 November 2011

Expanding the clinical spectrum of POMT1 phenotype.

scientific article published on May 2006

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

scientific article published in November 2002

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

scientific article published in December 2002

Functional involvement of central nervous system in mitochondrial disorders

scientific article published on 01 June 1997

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

article

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy ⬇️

scientific article published on September 16, 1995

Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: Relationship to myocardial and respiratory function

scientific article published on 01 May 2001

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

scientific article published on 26 September 2008

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

scientific article published on 18 January 2006

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

scientific article published on 30 August 2007

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

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

scientific article

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

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

scientific article published on 01 February 1997

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

Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patients

scientific article

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

scientific article published on 02 October 2010

Mobility assessment of patients with facioscapulohumeral dystrophy

scientific article published in December 2007

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

scientific article published on 01 May 1999

Mouth leaks may complicate positive airway pressure treatment of OSAS in facioscapulohumeral muscular dystrophy

scientific article published on 12 February 2008

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

scholarly article by Eugenio Mercuri et al published February 2005 in Neuromuscular Disorders

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 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

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

scientific article published on 01 February 2010

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

scientific article published on 27 April 2011

Music exposure differentially alters the levels of brain-derived neurotrophic factor and nerve growth factor in the mouse hypothalamus.

scientific article

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

scientific article

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

scholarly article

Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

scientific article published on 01 January 1993

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

Neurogenic pulmonary edema: a presenting symptom in multiple sclerosis

scientific article published on 01 June 1992

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

scientific article

New phenotype and pathology features in MYH7-related distal myopathy

scientific article published on 20 April 2012

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

scientific article published on 30 March 2015

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

scientific article

Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases

scientific article published on 01 October 1997

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

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

scientific article published on 2 June 2008

Pain and the alpha-sleep anomaly: a mechanism of sleep disruption in facioscapulohumeral muscular dystrophy

scientific article published on 6 February 2013

Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.

scientific article

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

scientific article published on 01 January 1995

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

scientific article published on 22 June 2011

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

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

scientific article published on 9 May 2009

Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.

scientific article published in August 2009

Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy

scientific article

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

scientific article

Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

scientific article published on 5 June 2009

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

scientific article published on 27 September 2012

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

scientific article

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

scientific article published on 04 September 2010

Teaching video neuroimages: complicated scapular winging

scientific article published in September 2013

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

Thymectomy in the treatment of myasthenia gravis: report of 247 patients

scientific article published on 01 May 1988

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

scientific article

Ultrasound tissue characterization does not differentiate genotype, but indexes ejection fraction deterioration in becker muscular dystrophy

scientific article

Upper girdle imaging in facioscapulohumeral muscular dystrophy

scientific article

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

scientific article published on 01 October 2005

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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