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Authors whose works are in public domain in at least one jurisdiction

List of works by Enzo Ricci

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

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

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

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

scientific article (publication date: 26 May 2009)
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

scientific article published on 01 October 2005
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

scientific article published on 18 November 2011
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
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

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

scientific article published on 10 November 2010
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

scientific article published on 01 February 2010
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
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

scientific article published on 01 August 2010
MyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle.

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

scientific article published on June 13, 2012
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

scientific article
Upper girdle imaging in facioscapulohumeral muscular dystrophy

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

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

scientific article published on 01 March 2006
Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: Relationship to myocardial and respiratory function

scientific article published on 01 May 2001
Music exposure differentially alters the levels of brain-derived neurotrophic factor and nerve growth factor in the mouse hypothalamus.

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

scientific article published on 27 April 2011
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
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

scientific article published on 30 March 2015
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
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
Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

scientific article published on 30 August 2007
Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.

scientific article published on 9 January 2006
Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy

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

scientific article published on September 16, 1995
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

scientific article published in December 2002
Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

scientific article published on 01 September 1990
Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

scientific article
Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

scientific article published on 31 August 2015
Muscle imaging findings in GNE myopathy.

scientific article published on 10 January 2012
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

scientific article published on 2 June 2008
Expanding the clinical spectrum of POMT1 phenotype.

scientific article published on May 2006
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
Muscle MRI in Becker muscular dystrophy

scientific article published on 01 October 2012
Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patients

scientific article
'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

scientific article published on 19 July 2013
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

scientific article published on 01 January 1995
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
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

scientific article
Muscle MRI in female carriers of dystrophinopathy.

scientific article published on 15 May 2012
Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.

scientific article published on 22 June 2011
New phenotype and pathology features in MYH7-related distal myopathy

scientific article published on 20 April 2012
Thymectomy in the treatment of myasthenia gravis: report of 247 patients

scientific article published on 01 May 1988
Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

scientific article published in November 2002
Increased aging in primary muscle cultures of sporadic inclusion-body myositis.

scientific article published on 26 September 2008

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