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ORPHANET JOURNAL OF RARE DISEASES

Journal

Identifier:

E191009

ISSN:

1750-1172

Overview

Overview

Outputs (30)

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An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

Academic Article

COG5-CDG: expanding the clinical spectrum

Academic Article

Characterization and classification of Rare Disease Registries by using exploratory data analyses.

Abstract

Chromatin dynamics and in vitro biomarkers in laminopathies: an overview

Abstract

Chromatin dynamics and in vitro biomarkers in laminopathies: an overview

Academic Article

Clinical, molecular and glycophenotype insights in SLC39A8-CDG

Academic Article

Congenital disorders of glycosylation: narration of a story through its patents

Academic Article

Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

Academic Article

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

Academic Article

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Academic Article

Drug repositioning can accelerate discovery of pharmacological chaperones

Academic Article

Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)

Academic Article

European lipodystrophy registry: Background and structure

Academic Article

Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study

Academic Article

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

Academic Article

Glycogen storage diseasetype Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

Academic Article

Holt Oram syndrome: a registry-based study in Europe

Academic Article

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva

Academic Article

Incontinentia pigmenti: report on data from 2000 to 2013

Academic Article

Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study

Academic Article

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

Academic Article

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

Abstract

Rett syndrome: a wide clinical and autonomic picture

Academic Article

Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond

Academic Article

Survival of children with rare structural congenital anomalies: a multi-registry cohort study

Academic Article

Survival of patients with rare diseases: a population-based study in Tuscany (Italy)

Academic Article

The empowerment of translational research: lessons from laminopathies.

Academic Article

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Academic Article

Xeroderma pigmentosum

Academic Article

eHealth for Patients with Rare Diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

Academic Article

No Results Found

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