Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

por Catalli, Claudio, Morgante, Alessandra, Iraci, Raniero, Rinaldi, Fabrizio, Botta, Annalisa, Novelli, Giuseppe
Publicado em 2010

Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection

por Scimeca, Manuel, Centofanti, Federica, Celi, Monica, Gasbarra, Elena, Novelli, Giuseppe, Botta, Annalisa, Tarantino, Umberto
Publicado no Aging Dis (2018)

DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review

por Visconti, Virginia Veronica, Cariati, Ida, Fittipaldi, Simona, Iundusi, Riccardo, Gasbarra, Elena, Tarantino, Umberto, Botta, Annalisa
Publicado no Int J Mol Sci (2021)

Altered Ca(2+) Homeostasis and Endoplasmic Reticulum Stress in Myotonic Dystrophy Type 1 Muscle Cells

por Botta, Annalisa, Malena, Adriana, Loro, Emanuele, Del Moro, Giulia, Suman, Matteo, Pantic, Boris, Szabadkai, Gyorgy, Vergani, Lodovica
Publicado em 2013

Correction to: The long pentraxin PTX3: a novel serum marker to improve the prediction of osteoporosis and osteoarthritis bonerelated phenotypes

por Visconti, Virginia Veronica, Greggi, Chiara, Fittipaldi, Simona, Casamassima, Donato, Tallarico, Mariagrazia, Romano, Francesco, Botta, Annalisa, Tarantino, Umberto
Publicado no J Orthop Surg Res (2021)

The long pentraxin PTX3: a novel serum marker to improve the prediction of osteoporosis and osteoarthritis bone-related phenotypes

por Visconti, Virginia Veronica, Greggi, Chiara, Fittipaldi, Simona, Casamassima, Donato, Tallarico, Maria Grazia, Romano, Francesco, Botta, Annalisa, Tarantino, Umberto
Publicado no J Orthop Surg Res (2021)

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients

por Gambardella, Stefano, Rinaldi, Fabrizio, Lepore, Saverio M, Viola, Antonella, Loro, Emanuele, Angelini, Corrado, Vergani, Lodovica, Novelli, Giuseppe, Botta, Annalisa
Publicado em 2010

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 em 2013

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family

por Fontana, Luana, Santoro, Massimo, D’Apice, Maria Rosaria, Peluso, Francesca, Gori, Giulia, Morrone, Amelia, Novelli, Giuseppe, Dosa, Laura, Botta, Annalisa
Publicado no Acta Myol (2020)

SCN4A as modifier gene in patients with myotonic dystrophy type 2

por Binda, Anna, Renna, Laura V., Bosè, Francesca, Brigonzi, Elisa, Botta, Annalisa, Valaperta, Rea, Fossati, Barbara, Rivolta, Ilaria, Meola, Giovanni, Cardani, Rosanna
Publicado no Sci Rep (2018)

TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2

por Bosè, Francesca, Renna, Laura Valentina, Fossati, Barbara, Arpa, Giovanni, Labate, Valentina, Milani, Valentina, Botta, Annalisa, Micaglio, Emanuele, Meola, Giovanni, Cardani, Rosanna
Publicado no Front Neurol (2019)

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) s...

por D’Apice, Maria Rosaria, De Dominicis, Angela, Murdocca, Michela, Amati, Francesca, Botta, Annalisa, Sangiuolo, Federica, Lattanzi, Giovanna, Federici, Massimo, Novelli, Giuseppe
Publicado no Acta Myol (2020)

The Role of PTX3 in Mineralization Processes and Aging-Related Bone Diseases

por Tarantino, Umberto, Greggi, Chiara, Cariati, Ida, Visconti, Virginia Veronica, Gasparini, Monica, Cateni, Marco, Gasbarra, Elena, Botta, Annalisa, Salustri, Antonietta, Scimeca, Manuel
Publicado no Front Immunol (2021)

Gene Expression Analysis in Myotonic Dystrophy: Indications for a Common Molecular Pathogenic Pathway in DM1 and DM2

por Botta, Annalisa, Vallo, Laura, Rinaldi, Fabrizio, Bonifazi, Emanuela, Amati, Francesca, Biancolella, Michela, Gambardella, Stefano, Mancinelli, Enzo, Angelini, Corrado, Meola, Giovanni, Novelli, Giuseppe
Publicado no Gene Expr (2018)

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

por Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe
Publicado no Eur J Hum Genet (2017)

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2

por Spitalieri, Paola, Talarico, Rosa V., Murdocca, Michela, Fontana, Luana, Marcaurelio, Marzia, Campione, Elena, Massa, Roberto, Meola, Giovanni, Serafino, Annalucia, Novelli, Giuseppe, Sangiuolo, Federica, Botta, Annalisa
Publicado no Front Physiol (2018)

Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts

por Rizzo, Milena, Beffy, Pascale, Del Carratore, Renata, Falleni, Alessandra, Pretini, Virginia, D’Aurizio, Romina, Botta, Annalisa, Evangelista, Monica, Stoccoro, Andrea, Coppedè, Fabio, Furling, Denis, Simili, Marcella
Publicado no Cell Death Dis (2018)

Identification of Aberrantly-Expressed Long Non-Coding RNAs in Osteoblastic Cells from Osteoporotic Patients

por Centofanti, Federica, Santoro, Massimo, Marini, Mario, Visconti, Virginia Veronica, Rinaldi, Anna Maria, Celi, Monica, D’Arcangelo, Giovanna, Novelli, Giuseppe, Orlandi, Augusto, Tancredi, Virginia, Tarantino, Umberto, Botta, Annalisa
Publicado no Biomedicines (2020)

Circulating Long Non-Coding RNA GAS5 Is Overexpressed in Serum from Osteoporotic Patients and Is Associated with Increased Risk of Bone Fragility

por Visconti, Virginia Veronica, Fittipaldi, Simona, Ciuffi, Simone, Marini, Francesca, Isaia, Giancarlo, D’Amelio, Patrizia, Migliaccio, Silvia, Marcocci, Claudio, Minisola, Salvatore, Nuti, Ranuccio, Novelli, Giuseppe, Brandi, Maria Luisa, Botta, Annalisa, Tarantino, Umberto
Publicado no Int J Mol Sci (2020)

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

por Botta, Annalisa, Visconti, Virginia Veronica, Fontana, Luana, Bisceglia, Paola, Bengala, Mario, Massa, Roberto, Bagni, Ilaria, Cardani, Rosanna, Sangiuolo, Federica, Meola, Giovanni, Antonini, Giovanni, Petrucci, Antonio, Pegoraro, Elena, D’Apice, Maria Rosaria, Novelli, Giuseppe
Publicado no Front Genet (2021)