about
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyDifferent mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyPrevalence of congenital muscular dystrophy in Italy: a population studySpectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsMusic exposure differentially alters the levels of brain-derived neurotrophic factor and nerve growth factor in the mouse hypothalamus.MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases.Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.Upper girdle imaging in facioscapulohumeral muscular dystrophy.Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophySequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophyMyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle.Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patientsDystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trialsNext generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsNovel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophyMuscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.Increased aging in primary muscle cultures of sporadic inclusion-body myositis.Expanding the clinical spectrum of POMT1 phenotype.POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.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).A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.Congenital muscular dystrophies with cognitive impairment. A population study.Teaching video neuroimages: complicated scapular winging.Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy.Pain and the alpha-sleep anomaly: a mechanism of sleep disruption in facioscapulohumeral muscular dystrophy.Ultrasound tissue characterization does not differentiate genotype, but indexes ejection fraction deterioration in becker muscular dystrophy.Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.Skeletal muscle apoptosis is not increased in gastric cancer patients with mild-moderate weight loss.Calf muscle involvement in Becker muscular dystrophy: when size does not matter.Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy.
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description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Enzo Ricci
@ast
Enzo Ricci
@en
Enzo Ricci
@es
Enzo Ricci
@nl
type
label
Enzo Ricci
@ast
Enzo Ricci
@en
Enzo Ricci
@es
Enzo Ricci
@nl
prefLabel
Enzo Ricci
@ast
Enzo Ricci
@en
Enzo Ricci
@es
Enzo Ricci
@nl
P106
P1153
7102436227
P1343
P21
P31
P496
0000-0003-3092-3597