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

door Auvinen, Satu, Suominen, Tiina, Hannonen, Pekka, Bachinski, Linda L., Krahe, Ralf, Udd, Bjarne
Gepubliceerd in 2008

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

door MENTULA, HANNA-KAISA, TUOVINEN, LAURA, PENTTILÄ, SINI, SUOMINEN, TIINA, UDD, BJARNE, PALMIO, JOHANNA
Gepubliceerd in 2012

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

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

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

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

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

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

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

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

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

door 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
Gepubliceerd in 2012

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

door 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
Gepubliceerd in 2010

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

door 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
Gepubliceerd in J Clin Invest (2018)

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

door 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.
Gepubliceerd in 2014