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

Por Auvinen, Satu, Suominen, Tiina, Hannonen, Pekka, Bachinski, Linda L., Krahe, Ralf, Udd, Bjarne
Publicado em 2008

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

Por MENTULA, HANNA-KAISA, TUOVINEN, LAURA, PENTTILÄ, SINI, SUOMINEN, TIINA, UDD, BJARNE, PALMIO, JOHANNA
Publicado em 2012

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

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

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

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

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

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

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

Por Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.
Publicado no Neurology (2019)

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Por 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
Publicado em 2012

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

Por 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
Publicado em 2010

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 no J Clin Invest (2018)

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

Por 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.
Publicado em 2014