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)
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Journal Article
Association study reveals novel risk loci for sporadic inclusion body myositis
Johari, M., Arumilli, M., Palmio, J., Savarese, M., Tasca, G., Mirabella, M., Sandholm, N., Lohi, H., Hackman, P., Udd, B.
Published in European journal of neurology (01.04.2017)
Published in European journal of neurology (01.04.2017)
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Journal Article
'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D
Sandell, S. M., Mahjneh, I., Palmio, J., Tasca, G., Ricci, E., Udd, B. A.
Published in European journal of neurology (01.12.2013)
Published in European journal of neurology (01.12.2013)
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Journal Article
Increased plasma levels of cytokines after seizures in localization-related epilepsy
Lehtimäki, K. A., Keränen, T., Palmio, J., Mäkinen, R., Hurme, M., Honkaniemi, J., Peltola, J.
Published in Acta neurologica Scandinavica (01.10.2007)
Published in Acta neurologica Scandinavica (01.10.2007)
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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)
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Journal Article
New SCN4A mutations – unusual clinical phenotypes
Sandell, S, Palmio, J, Penttilä, S, Suominen, T, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)
Palmio, J, Penttilä, S, Moilanen, J, Kärppä, M, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Novel homozygosity of c.1508insC mutation in DOK7 causes congenital myasthenia with variable severity
Palmio, J, Penttilä, S, Suominen, T, Kirjavainen, J, Kiviranta, P, Saarela, J, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Two novel BICD2 mutations occurring de novo in sporadic Finnish SMALED2 patients
Penttilä, S, Caminiti, D, Palmio, J, Jokela, M, Alen, R, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Regulation of IL-6 system in cerebrospinal fluid and serum compartments by seizures: the effect of seizure type and duration
Lehtimäki, K.A, Keränen, T, Huhtala, H, Hurme, M, Ollikainen, J, Honkaniemi, J, Palmio, J, Peltola, J
Published in Journal of neuroimmunology (01.07.2004)
Published in Journal of neuroimmunology (01.07.2004)
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Journal Article
Late-onset limb-girdle muscular dystrophy caused by GMPPB -mutation
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Journal Article
Conference Proceeding
G.P.282
Jonson, P.H, Palmio, J, Sarparanta, J, Luque, H, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy
Stojkovic, T, Bedat-Millet, A, Chapon, F, Malfatti, E, Romero, N, Brochier, G, Laquerriere, A, Penttila, S, Jonson, P, Palmio, J, Hackman, P, Udd, B, Eymard, B
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Autoantibodies to glutamic acid decarboxylase in patients with therapy-resistant epilepsy
Peltola, J, Kulmala, P, Isojärvi, J, Saiz, A, Latvala, K, Palmio, J, Savola, K, Knip, M, Keränen, T, Graus, F
Published in Neurology (12.07.2000)
Published in Neurology (12.07.2000)
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Journal Article
Mutated HSPB8 causes both neurogenic and myopathic disease with muscle proteinopathy
Lindfors, M, Ghaoui, R, Penttila, S, Palmio, J, Needham, M, North, K, Clarke, N, Sue, C, Jonson, P, Vihola, A, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Interleukin-6 and Interleukin-1 receptor antagonist in cerebrospinal fluid from patients with recent tonic–clonic seizures
Peltola, J, Palmio, J, Korhonen, L, Suhonen, J, Miettinen, A, Hurme, M, Lindholm, D, Keränen, T
Published in Epilepsy research (01.10.2000)
Published in Epilepsy research (01.10.2000)
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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)
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