Genetic basis of limb-girdle muscular dystrophies: the 2014 update

por NIGRO, VINCENZO, SAVARESE, MARCO
Publicado 2014

Use of animal models to understand titin physiology and pathology

por Marcello, Matteo, Cetrangolo, Viviana, Savarese, Marco, Udd, Bjarne
Publicado 2022

GYG1 gene mutations in a family with polyglucosan body myopathy

por Fanin, Marina, Torella, Annalaura, Savarese, Marco, Nigro, Vincenzo, Angelini, Corrado
Publicado 2015

Increasing Role of Titin Mutations in Neuromuscular Disorders

por Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Publicado 2016

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

por Savarese, Marco, Välipakka, Salla, Johari, Mridul, Hackman, Peter, Udd, Bjarne
Publicado 2020

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

por Giugliano, Teresa, Fanin, Marina, Savarese, Marco, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Publicado 2016

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

por Onore, Maria Elena, Savarese, Marco, Picillo, Esther, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Publicado 2022

The complexity of titin splicing pattern in human adult skeletal muscles

por Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter
Publicado 2018

Panorama of the distal myopathies

por Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Johari, Mridul, Rusanen, Salla, Hackman, Peter, Udd, Bjarne
Publicado 2020

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

por Savarese, Marco, Di Fruscio, Giuseppina, Mutarelli, Margherita, Torella, Annalaura, Magri, Francesca, Santorelli, Filippo Maria, Comi, Giacomo Pietro, Bruno, Claudio, Nigro, Vincenzo
Publicado 2014

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

por Johari, Mridul, Vihola, Anna, Palmio, Johanna, Jokela, Manu, Jonson, Per Harald, Sarparanta, Jaakko, Huovinen, Sanna, Savarese, Marco, Hackman, Peter, Udd, Bjarne
Publicado 2022

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

por Johari, Mridul, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sophia, Kanavaki, Aikaterini, Chrysanthou‐Piterou, Margarita, Rusanen, Salla, Savarese, Marco, Hackman, Peter, Udd, Bjarne
Publicado 2022

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

por Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta
Publicado 2023

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

por Di Fruscio, Giuseppina, Schulz, Angela, De Cegli, Rossella, Savarese, Marco, Mutarelli, Margherita, Parenti, Giancarlo, Banfi, Sandro, Braulke, Thomas, Nigro, Vincenzo, Ballabio, Andrea
Publicado 2015

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

por Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo
Publicado 2020

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

por Sarparanta, Jaakko, Jonson, Per Harald, Reimann, Jens, Vihola, Anna, Luque, Helena, Penttilä, Sini, Johari, Mridul, Savarese, Marco, Hackman, Peter, Kornblum, Cornelia, Udd, Bjarne
Publicado 2023

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

por Astrea, Guja, Petrucci, Antonio, Cassandrini, Denise, Savarese, Marco, Trovato, Rosanna, Lispi, Ludovico, Rubegni, Anna, Giacanelli, Manlio, Massa, Roberto, Nigro, Vincenzo, Santorelli, Filippo M.
Publicado 2016

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

por Savarese, Marco, Piluso, Giulio, Orteschi, Daniela, Di Fruscio, Giuseppina, Dionisi, Manuela, Blanco, Francesca del Vecchio, Torella, Annalaura, Giugliano, Teresa, Iacomino, Michele, Zollino, Marcella, Neri, Giovanni, Nigro, Vincenzo
Publicado 2012

Copy number variation analysis increases the diagnostic yield in muscle diseases

por Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, Lopez de Munain, Adolfo, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter
Publicado 2017

Mutation update for the ACTN2 gene

por Ranta‐aho, Johanna, Olive, Montse, Vandroux, Marie, Roticiani, Giorgia, Dominguez, Cristina, Johari, Mridul, Torella, Annalaura, Böhm, Johann, Turon, Janina, Nigro, Vincenzo, Hackman, Peter, Laporte, Jocelyn, Udd, Bjarne, Savarese, Marco
Publicado 2022