Lista de obras - Patrizia Sabatelli - Dominio Público Uruguay

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

artículo científico publicado en 2014

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

artículo científico publicado en 2005

At the nucleus of the problem: nuclear proteins and disease

artículo científico publicado en 2003

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

artículo científico publicado en 2016

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

artículo científico publicado en 2013

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

artículo científico publicado en 2009

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

article

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

artículo científico publicado en 2014

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition

artículo científico publicado en 2003

EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance

artículo científico publicado en 2013

Emery-Dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling

artículo científico publicado en 2002

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

artículo científico publicado en 2003

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription

artículo científico publicado en 2003

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

artículo científico publicado en 2012

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy ⬇️

artículo científico publicado el 1 de diciembre de 1997

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

artículo científico publicado en 2010

Laminopathies: a chromatin affair

artículo científico publicado en 2006

Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases

artículo científico publicado en 2005

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

artículo científico publicado en 2014

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

artículo científico publicado en 2014

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

article published in 2001

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice

artículo científico publicado en 2012

Properties of Ca(2+) transport in mitochondria of Drosophila melanogaster

artículo científico publicado en 2011

The epg5 knockout zebrafish line: a model to study Vici syndrome

scientific article published on 17 March 2019

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains

scientific article published on 01 January 2006

Lista de obras de Patrizia Sabatelli

Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

At the nucleus of the problem: nuclear proteins and disease

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition

EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance

Emery-Dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy ⬇️

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Laminopathies: a chromatin affair

Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice

Properties of Ca(2+) transport in mitochondria of Drosophila melanogaster

The epg5 knockout zebrafish line: a model to study Vici syndrome

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains