Myotonic Dystrophy Type 2 Found in Two of Sixty-Three Persons Diagnosed as Having Fibromyalgia

gan Auvinen, Satu, Suominen, Tiina, Hannonen, Pekka, Bachinski, Linda L., Krahe, Ralf, Udd, Bjarne
Cyhoeddwyd 2008

TARDBP mutations are not a frequent cause of ALS in Finnish patients

gan MENTULA, HANNA-KAISA, TUOVINEN, LAURA, PENTTILÄ, SINI, SUOMINEN, TIINA, UDD, BJARNE, PALMIO, JOHANNA
Cyhoeddwyd 2012

Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2

gan Vihola, Anna, Sirito, Mario, Bachinski, Linda L., Raheem, Olayinka, Screen, Mark, Suominen, Tiina, Krahe, Ralf, Udd, Bjarne
Cyhoeddwyd 2013

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

gan Suominen, Tiina, Schoser, Benedikt, Raheem, Olayinka, Auvinen, Satu, Walter, Maggie, Krahe, Ralf, Lochmüller, Hanns, Kress, Wolfram, Udd, Bjarne
Cyhoeddwyd 2008

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

gan Suominen, Tiina, Bachinski, Linda L, Auvinen, Satu, Hackman, Peter, Baggerly, Keith A, Angelini, Corrado, Peltonen, Leena, Krahe, Ralf, Udd, Bjarne
Cyhoeddwyd 2011

Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4

gan Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.
Cyhoeddwyd yn Neurology (2019)

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

gan Raheem, Olayinka, Penttilä, Sini, Suominen, Tiina, Kaakinen, Mika, Burge, James, Haworth, Andrea, Sud, Richa, Schorge, Stephanie, Haapasalo, Hannu, Sandell, Satu, Metsikkö, Kalervo, Hanna, Michael, Udd, Bjarne
Cyhoeddwyd 2012

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

gan Vihola, Anna, Bachinski, Linda L., Sirito, Mario, Olufemi, Shodimu-Emmanuel, Hajibashi, Shohrae, Baggerly, Keith A., Raheem, Olayinka, Haapasalo, Hannu, Suominen, Tiina, Holmlund-Hampf, Jeanette, Paetau, Anders, Cardani, Rosanna, Meola, Giovanni, Kalimo, Hannu, Edström, Lars, Krahe, Ralf, Udd, Bjarne
Cyhoeddwyd 2010

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

gan 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
Cyhoeddwyd yn J Clin Invest (2018)

NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY

gan Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Beggs, Alan H., Cox, Gerald F., Dastgir, Jahannaz, DeChene, Elizabeth T., Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttilä, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter Y.K., Vilchez, Juan J., Wagner, Kathryn R., Wheeler, Patricia G., Wraige, Elizabeth, Laing, Nigel G.
Cyhoeddwyd 2014