Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

Por Ylikallio, Emil, Johari, Mridul, Konovalova, Svetlana, Moilanen, Jukka S, Kiuru-Enari, Sari, Auranen, Mari, Pajunen, Leila, Tyynismaa, Henna
Publicado em 2014

Copy number variation analysis increases the diagnostic yield in muscle diseases

Por Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, Lopez de Munain, Adolfo, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter
Publicado no Neurol Genet (2017)

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)