SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

por Bucelli, Robert C., Arhzaouy, Khalid, Pestronk, Alan, Pittman, Sara K., Rojas, Luisa, Sue, Carolyn M., Evilä, Anni, Hackman, Peter, Udd, Bjarne, Harms, Matthew B., Weihl, Conrad C.
Publicado en Neurology (2015)

Titin mutation segregates with hereditary myopathy with early respiratory failure

por Pfeffer, Gerald, Elliott, Hannah R., Griffin, Helen, Barresi, Rita, Miller, James, Marsh, Julie, Evilä, Anni, Vihola, Anna, Hackman, Peter, Straub, Volker, Dick, David J., Horvath, Rita, Santibanez-Koref, Mauro, Udd, Bjarne, Chinnery, Patrick F.
Publicado 2012

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

por Rossi, Daniela, Palmio, Johanna, Evilä, Anni, Galli, Lucia, Barone, Virginia, Caldwell, Tracy A., Policke, Rachel A., Aldkheil, Esraa, Berndsen, Christopher E., Wright, Nathan T., Malfatti, Edoardo, Brochier, Guy, Pierantozzi, Enrico, Jordanova, Albena, Guergueltcheva, Velina, Romero, Norma Beatriz, Hackman, Peter, Eymard, Bruno, Udd, Bjarne, Sorrentino, Vincenzo
Publicado en PLoS One (2017)

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

por Ghaoui, Roula, Palmio, Johanna, Brewer, Janice, Lek, Monkol, Needham, Merrilee, Evilä, Anni, Hackman, Peter, Jonson, Per-Harald, Penttilä, Sini, Vihola, Anna, Huovinen, Sanna, Lindfors, Mikaela, Davis, Ryan L., Waddell, Leigh, Kaur, Simran, Yiannikas, Con, North, Kathryn, Clarke, Nigel, MacArthur, Daniel G., Sue, Carolyn M., Udd, Bjarne
Publicado en Neurology (2016)

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

por Lee, YouJin, Jonson, Per Harald, Sarparanta, Jaakko, Palmio, Johanna, Sarkar, Mohona, Vihola, Anna, Evilä, Anni, Suominen, Tiina, Penttilä, Sini, Savarese, Marco, Johari, Mridul, Minot, Marie-Christine, Hilton-Jones, David, Maddison, Paul, Chinnery, Patrick, Reimann, Jens, Kornblum, Cornelia, Kraya, Torsten, Zierz, Stephan, Sue, Carolyn, Goebel, Hans, Azfer, Asim, Ralston, Stuart H., Hackman, Peter, Bucelli, Robert C., Taylor, J. Paul, Weihl, Conrad C., Udd, Bjarne
Publicado en J Clin Invest (2018)

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

por Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M., Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo
Publicado en JAMA Neurol (2018)

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

por Savarese, Marco, Di Fruscio, Giuseppina, Torella, Annalaura, Fiorillo, Chiara, Magri, Francesca, Fanin, Marina, Ruggiero, Lucia, Ricci, Giulia, Astrea, Guja, Passamano, Luigia, Ruggieri, Alessandra, Ronchi, Dario, Tasca, Giorgio, D'Amico, Adele, Janssens, Sandra, Farina, Olimpia, Mutarelli, Margherita, Marwah, Veer Singh, Garofalo, Arcomaria, Giugliano, Teresa, Sanpaolo, Simone, Del Vecchio Blanco, Francesca, Esposito, Gaia, Piluso, Giulio, D'Ambrosio, Paola, Petillo, Roberta, Musumeci, Olimpia, Rodolico, Carmelo, Messina, Sonia, Evilä, Anni, Hackman, Peter, Filosto, Massimiliano, Di Iorio, Giuseppe, Siciliano, Gabriele, Mora, Marina, Maggi, Lorenzo, Minetti, Carlo, Sacconi, Sabrina, Santoro, Lucio, Claes, Kathleen, Vercelli, Liliana, Mongini, Tiziana, Ricci, Enzo, Gualandi, Francesca, Tupler, Rossella, De Bleecker, Jan, Udd, Bjarne, Toscano, Antonio, Moggio, Maurizio, Pegoraro, Elena, Bertini, Enrico, Mercuri, Eugenio, Angelini, Corrado, Santorelli, Filippo Maria, Politano, Luisa, Bruno, Claudio, Comi, Giacomo Pietro, Nigro, Vincenzo
Publicado en Neurology (2016)