Marcella Neri
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View article: Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report Open
Collagen VI is an extracellular matrix component encoded by COL6A1, COL6A2 and COL6A3 genes. Causative variants in these genes are associated with the following collagen VI-related myopathies: severe Ullrich congenital muscular dystrophy (…
View article: MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping Open
Rett syndrome (RTT) is a rare X-linked dominant neurodevelopmental disorder caused by pathogenic variants in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a methyl-CpG-binding protein (MeCP2) that acts as a repressor of gene…
View article: Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study Open
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current funct…
View article: Miglustat as Disease‐Modifying Therapy in a Patient with <scp><i>SCARB2</i></scp>‐Related Action Myoclonus Renal Failure
Miglustat as Disease‐Modifying Therapy in a Patient with <span><i>SCARB2</i></span>‐Related Action Myoclonus Renal Failure Open
No abstract available
View article: Clinical Genetic Services in the Emilia-Romagna Region, Italy: Current Activity and Open Issues. A Mixed-Method Study
Clinical Genetic Services in the Emilia-Romagna Region, Italy: Current Activity and Open Issues. A Mixed-Method Study Open
Purpose In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the curre…
View article: Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience Open
Background The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, …
View article: TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases Open
Telemedicine provides healthcare services remotely and represents a fundamental resource for the management of rare and fragile patients. Tele-health implementation is a main objective of the European Reference Networks (ERNs) mission to a…
View article: Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy Open
The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the mem…
View article: Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries Open
Our data provide unreported mutation landscapes in different countries, suggesting that ethnicity may orient genetic diagnosis flowchart, which can be adjusted depending on the mutation type frequency, with impact in drug eligibility.
View article: The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study Open
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our…
View article: Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains Open
Muscular dystrophy-associated mutations of TRIM32 impair ULK1-dependent autophagy response during muscle atrophy.
View article: Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family Open
Only a few genes involved in teeth development and morphology are known to be responsible for tooth abnormalities in Mendelian-inherited diseases. We studied an inbred family of Pakistani origin in which two first-cousin born brothers are …
View article: Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia
Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia Open
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly charac…
ORAL AB AGORA1362Cardiac Involvement in Patients With Different Rheumatic Disorders1366Gender differences in the development of cardiac complications: a multicentric prospective study in a large cohort of thalassemia major patients1646Comparison of T1-mapping, T2-weighted and contrast-enhanced cine imaging at 3.0T CMR for diagnostic oedema assessment in ST-segment elevation myocardial infarction1375Evaluation of Tissue Changes in Remote Noninfarcted Myocardium after Acute Myocardial Infarction using T1-mapping1377Right ventricular long axis strain – The prognostic value of a novel parameter in non-ischemic dilated cardiomyopathy using standard cardiac magnetic resonance imaging1389The role of the right ventricular insertion point in heart failure patients with preserved ejection fraction: Insights from a cardiovascular magnetic resonance study1398Myocardial fibrosis associates with B-type natriuretic peptide levels and outcomes more than wall stress1478Prognostic Value of Pulmonary Blood Volume by Contrast-Enhanced Magnetic Resonance Imaging in Heart Failure Outpatients – The PROVE-HF Study1370Magnetic Resonance Adenosine Perfusion Imaging as Gatekeeper of Invasive Coronary1509Influence of non-invasive hemodynamic CMR parameters on maximal exercise capacity in surgically untreated patients with Ebstein's anomaly1356Proximal aortic stiffening in Turner patients is more pronounced in the presence of a bicuspid valve. A segmental functional MRI study1503Flow pattern and vascular distensibility of the pulmonary arteries in patients after repair of tetralogy of Fallot. Insights from 4D flow CMR1516Myocardial deformation characteristics of the systemic right ventricle after atrial switch operation for transposition of the great arteries1633Three-dimensional vortex formation in patients with a Fontan circulation: evaluation with 4D flow CMR1483Mitral valve prolapse: arrhythmogenic substrates by cardiac magnetic imaging1596Increased local wall shear stress after coarctation repair is associated with descending aorta pulse wave velocity: evaluation with CMR and 4D flow1636Three-dimensional wall shear stress assessed by 4Dflow CMR in bicuspid aortic valve disease1464Cardiac Amyloidosis and Aortic Stenosis – The Convergence of Two Aging Processes1630Blood T1 variability explained in healthy volunteers: an analysis on MOLLI, ShMOLLI and SASHA1408Myocardial deformation on CMR predicts adverse outcomes in carcinoid heart disease - a new marker of risk1492Myocardial Perfusion Reserve and Global Longitudinal Strain in Early Rheumatoid Arthritis1500Exercise CMR to differentiate athlete's heart from patients with early dilated cardiomyopathy1559Real-Time, x-mri guidance to optimise left ventricular lead placement for delivery of cardiac resynchronisation therapy1560The role of Cardiac magnetic resonance imaging in patients undergoing ablation for ventricular tachycardia- Defining the substrate and visualizing the outcome1590Impact of cardiovascular magnetic resonance on clinical management and decision-making of out of hospital cardiac arrest survivors with inconclusive coronary angiogram1561Detection of coronary stenosis at rest using Oxygenation-Sensitive Magnetic Resonance Imaging Open
Purpose: There is much controversy about the prevalence of cardiac involvement in patients with rheumatic disorders.This is of importance, since consequences of cardiac involvement range from different treatment regimes to adverse outcomes…
View article: Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy Open
Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (C…