Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5
Penttilä, S, Palmio, J, Suominen, T, Raheem, O, Evilä, A, Muelas Gomez, N, Tasca, G, Waddell, L B, Clarke, N F, Barboi, A, Hackman, P, Udd, B
Published in Neurology (20.03.2012)
Published in Neurology (20.03.2012)
Get more information
Journal Article
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
Jonson, P. H., Palmio, J., Johari, M., Penttilä, S., Evilä, A., Nelson, I., Bonne, G., Wiart, N., Meyer, V., Boland, A., Deleuze, J.‐F., Masson, C., Stojkovic, T., Chapon, F., Romero, N. B., Solé, G., Ferrer, X., Ferreiro, A., Hackman, P., Richard, I., Udd, B.
Published in European journal of neurology (01.05.2018)
Published in European journal of neurology (01.05.2018)
Get full text
Journal Article
Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders
Lehtinen, S, Penttilä, S, Suominen, T, Evilä, A, Arumilli, M, Hackman, P, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
A novel mutation in DNAJB6 causes LGMD1D in two French families
Jonson, P, Evilä, A, Stojkovic, T, Chapon, F, Luque, H, Hackman, P, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article
G.P.283
Palmio, J.M.M, Evilä, A, Jonson, P.H, Auranen, M, Kiuru-Enari, S, Pihko, H, Hackman, P, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
Get full text
Journal Article
GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology
Papadimas, G K, Evilä, A, Papadopoulos, C, Kararizou, E, Manta, P, Udd, B
Published in Journal of neuromuscular diseases (27.05.2016)
Published in Journal of neuromuscular diseases (27.05.2016)
Get more information
Journal Article
G.O.1 Welander distal myopathy is caused by a mutated RNA binding protein
Hackman, P, Sarparanta, J, Lehtinen, S, Naukkarinen, A, Evilä, A, Jonson, P.H, Luque, H, Screen, M, Edström, L, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
Get full text
Journal Article
G.P.35 Identical TTN gene A-band mutation causing HMERF occurs in different European populations
Palmio, J.M, Evilä, A, Kärppä, M, Tasca, G, Quinlivan, R, Xiang, F, Edström, L, Hackman, P, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
Get full text
Journal Article
Hereditary myopathy with early respiratory failure: occurrence in various populations
Palmio, Johanna, Evilä, Anni, Chapon, Françoise, Tasca, Giorgio, Xiang, Fengqing, Brådvik, Björn, Eymard, Bruno, Echaniz-Laguna, Andoni, Laporte, Jocelyn, Kärppä, Mikko, Mahjneh, Ibrahim, Quinlivan, Rosaline, Laforêt, Pascal, Damian, Maxwell, Berardo, Andres, Taratuto, Ana Lia, Bueri, Jose Antonio, Tommiska, Johanna, Raivio, Taneli, Tuerk, Matthias, Gölitz, Philipp, Chevessier, Frederic, Sewry, Caroline, Norwood, Fiona, Hedberg, Carola, Schröder, Rolf, Edström, Lars, Oldfors, Anders, Hackman, Peter, Udd, Bjarne
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2014)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2014)
Get full text
Journal Article
The genetic panorama in titin gene by re-sequencing projects
Savarese, M, Evila, A, Torella, A, Arumilli, M, Nigro, V, Hackman, P, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
G.P.323 - Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy
Evilä, A., Penttilä, S., Hackman, P., Udd, B.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article
A.P.4
Vihola, A, Palmio, J, Tasca, G, Eymard, B, Evila, A, Lange, S, Xiang, F, Edstrom, L, Hackman, P, Gautel, M, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
Get full text
Journal Article
P.247 - Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders
Lehtinen, S., Penttilä, S., Suominen, T., Evilä, A., Arumilli, M., Hackman, P., Udd, B.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity
Evila, A, Vihola, A, Sarparanta, J, Raheem, O, Sandell, S, Eymard, B, Illa, I, Rojas-Garcia, R, Hankiewicz, K, Negrao, L, Lopponen, T, Nokelainen, P, Karppa, M, Penttila, S, Screen, M, Suominen, T, Richard, I, Hackman, P, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
Get full text
Journal Article
G.P.173 - A novel mutation in DNAJB6 causes LGMD1D in two French families
Jonson, P., Evilä, A., Stojkovic, T., Chapon, F., Luque, H., Hackman, P., Udd, B.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article