From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies

por Barresi, Rita
Publicado 2011

Anti-SARS-CoV-2 IgG Antibody Response in Individuals Infected Post Complete Vaccination: A 6-Month Longitudinal Study in Healthcare Professionals

por Baratto, Nicole, Maistrello, Lorenza, Pazienza, Elena, Barresi, Rita
Publicado 2023

Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis

por Harris, Elizabeth, Laval, Steve, Hudson, Judith, Barresi, Rita, De Waele, Liesbeth, Straub, Volker, Lochmüller, Hanns, Bushby, Kate, Sarkozy, Anna
Publicado 2013

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study

por Steele, Hannah E., Harris, Elizabeth, Barresi, Rita, Marsh, Julie, Beattie, Anna, Bourke, John P., Straub, Volker, Chinnery, Patrick F.
Publicado 2016

Mitochondrial dysfunction in myofibrillar myopathy

por Vincent, Amy E., Grady, John P., Rocha, Mariana C., Alston, Charlotte L., Rygiel, Karolina A., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Publicado 2016

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

por Chiu, Yen-Hui, Hornsey, Mark A., Klinge, Lars, Jørgensen, Louise H., Laval, Steven H., Charlton, Richard, Barresi, Rita, Straub, Volker, Lochmüller, Hanns, Bushby, Kate
Publicado 2009

New aspects on patients affected by dysferlin deficient muscular dystrophy

por Klinge, Lars, Aboumousa, Ahmed, Eagle, Michelle, Hudson, Judith, Sarkozy, Anna, Vita, Gianluca, Charlton, Richard, Roberts, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate
Publicado 2009

Dysferlin mutations and mitochondrial dysfunction

por Vincent, Amy E., Rosa, Hannah S., Alston, Charlotte L., Grady, John P., Rygiel, Karolina A., Rocha, Mariana C., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Publicado 2016

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

por Rajab, Anna, Straub, Volker, McCann, Liza J., Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus
Publicado 2010

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

por Harris, Elizabeth, Topf, Ana, Barresi, Rita, Hudson, Judith, Powell, Helen, Tellez, James, Hicks, Debbie, Porter, Anna, Bertoli, Marta, Evangelista, Teresinha, Marini-Betollo, Chiara, Magnússon, Ólafur, Lek, Monkol, MacArthur, Daniel, Bushby, Kate, Lochmüller, Hanns, Straub, Volker
Publicado 2017

Prediction of rehabilitation induced motor recovery after stroke using a multi-dimensional and multi-modal approach

por Salvalaggio, Silvia, Turolla, Andrea, Andò, Martina, Barresi, Rita, Burgio, Francesca, Busan, Pierpaolo, Cortese, Anna Maria, D’Imperio, Daniela, Danesin, Laura, Ferrazzi, Giulio, Maistrello, Lorenza, Mascotto, Eleonora, Parrotta, Ilaria, Pezzetta, Rachele, Rigon, Elena, Vedovato, Anna, Zago, Sara, Zorzi, Marco, Arcara, Giorgio, Mantini, Dante, Filippini, Nicola
Publicado 2023

Dystrophin quantification: Biological and translational research implications

por Anthony, Karen, Arechavala-Gomeza, Virginia, Taylor, Laura E., Vulin, Adeline, Kaminoh, Yuuki, Torelli, Silvia, Feng, Lucy, Janghra, Narinder, Bonne, Gisèle, Beuvin, Maud, Barresi, Rita, Henderson, Matt, Laval, Steven, Lourbakos, Afrodite, Campion, Giles, Straub, Volker, Voit, Thomas, Sewry, Caroline A., Morgan, Jennifer E., Flanigan, Kevin M., Muntoni, Francesco
Publicado 2014

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

por Johnson, Katherine, De Ridder, Willem, Töpf, Ana, Bertoli, Marta, Phillips, Lauren, De Jonghe, Peter, Baets, Jonathan, Deconinck, Tine, Rakocevic Stojanovic, Vidosava, Perić, Stojan, Durmus, Hacer, Jamal-Omidi, Shirin, Nafissi, Shahriar, Mongini, Tiziana, Łusakowska, Anna, Busby, Mark, Miller, James, Norwood, Fiona, Hudson, Judith, Barresi, Rita, Lek, Monkol, MacArthur, Daniel G, Straub, Volker
Publicado 2019

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

por Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D’Amico, Adele, Santorelli, Filippo M.
Publicado 2018

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

por Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan
Publicado 2017

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

por Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O’Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry
Publicado 2021