Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies

por MEOLA, GIOVANNI
Publicado 2013

Myotonic dystrophy type 2: the 2020 update

por Meola, Giovanni
Publicado 2020

Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism

por Meola, Giovanni, Cardani, Rosanna
Publicado 2015

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

por Gourdon, Genevieve, Meola, Giovanni
Publicado 2017

Editorial: Beyond Borders: Myotonic Dystrophies–A European Perception

por Schoser, Benedikt, Meola, Giovanni
Publicado 2018

Editorial: Neurodegeneration: From Disease Mechanism to Therapeutic Advancement

por Sarkar, Partha S., Meola, Giovanni, Zhang, Nan
Publicado 2022

Editorial: Myopathology of inherited myopathies

por Fiorillo, Chiara, Malfatti, Edoardo, Meola, Giovanni
Publicado 2022

RNA Transcription and Maturation in Skeletal Muscle Cells are Similarly Impaired in Myotonic Dystrophy and Sarcopenia: The Ultrastructural Evidence

por Malatesta, Manuela, Cardani, Rosanna, Pellicciari, Carlo, Meola, Giovanni
Publicado 2014

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

por Pagliarani, Serena, Meola, Giovanni, Filareti, Melania, Comi, Giacomo Pietro, Lucchiari, Sabrina
Publicado 2022

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1

por Peric, Stojan, Pesovic, Jovan, Savic-Pavicevic, Dusanka, Rakocevic Stojanovic, Vidosava, Meola, Giovanni
Publicado 2021

Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies

por Renna, Laura Valentina, Bosè, Francesca, Brigonzi, Elisa, Fossati, Barbara, Meola, Giovanni, Cardani, Rosanna
Publicado 2019

First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease

por Cavalli, Michele, Cardani, Rosanna, Renna, Laura Valentina, Toffetti, Mauro, Villa, Luisa, Meola, Giovanni
Publicado 2021

MSA Mimic? Rare Occurrence of Anti-Hu Autonomic Failure and Thymoma in a Patient with Parkinsonism: Case Report and Literature Review

por Ricigliano, Vito A. G., Fossati, Barbara, Saraceno, Lorenzo, Cavalli, Michele, Bazzigaluppi, Elena, Meola, Giovanni
Publicado 2018

Deregulated MicroRNAs in Myotonic Dystrophy Type 2

por Greco, Simona, Perfetti, Alessandra, Fasanaro, Pasquale, Cardani, Rosanna, Capogrossi, Maurizio C., Meola, Giovanni, Martelli, Fabio
Publicado 2012

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients

por Provenzano, Claudia, Cappella, Marisa, Valaperta, Rea, Cardani, Rosanna, Meola, Giovanni, Martelli, Fabio, Cardinali, Beatrice, Falcone, Germana
Publicado 2017

Neuropsychological and Psychological Functioning Aspects in Myotonic Dystrophy Type 1 Patients in Italy

por Callus, Edward, Bertoldo, Enrico G., Beretta, Maria, Boveri, Sara, Cardani, Rosanna, Fossati, Barbara, Brigonzi, Elisa, Meola, Giovanni
Publicado 2018

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

por Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
Publicado 2013

Sporadic MM-1 Type Creutzfeldt-Jakob Disease With Hemiballic Presentation and No Cognitive Impairment Until Death: How New NCJDRSU Diagnostic Criteria May Allow Early Diagnosis

por Saraceno, Lorenzo, Ricigliano, Vito A. G., Cavalli, Michele, Cagol, Alessandro, Bosco, Giovanna, Moda, Fabio, Caroppo, Paola, Meola, Giovanni
Publicado 2018

Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2

por Cardani, Rosanna, Bugiardini, Enrico, Renna, Laura V., Rossi, Giulia, Colombo, Graziano, Valaperta, Rea, Novelli, Giuseppe, Botta, Annalisa, Meola, Giovanni
Publicado 2013

Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle

por Renna, Laura Valentina, Bosè, Francesca, Iachettini, Sara, Fossati, Barbara, Saraceno, Lorenzo, Milani, Valentina, Colombo, Roberto, Meola, Giovanni, Cardani, Rosanna
Publicado 2017