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1

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

Palmio, J., Evila, A., Bashir, A., Norwood, F., Viitaniemi, K., Vihola, A., Huovinen, S., Straub, V., Hackman, P., Hirano, M., Bushby, K., Udd, B.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 227 KB

english, 2015

2

Late-onset limb-girdle muscular dystrophy caused by GMPPB-mutation

Balcin, H., Palmio, J., Nennesmo, I., Solders, G., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

3

Actininopathy – a new muscular dystrophy caused by ACTN2 dominant mutations

Savarese, Marco, Palmio, Johanna, Poza, Juan José, Weinberg, Jan, Olive, Montse, Cobo, Ana Maria, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, García‐Bragado, Federico, Urtizberea, Jon Andoni

Journal:

Annals of Neurology

Year:

2019

Language:

english

File:

PDF, 1.62 MB

english, 2019

4

Elevated serum neuron-specific enolase in patients with temporal lobe epilepsy: A video–EEG study

Johanna Palmio, Tapani Keränen, Tiina Alapirtti, Janne Hulkkonen, Riikka Mäkinen, Päivi Holm, Jaana Suhonen, Jukka Peltola

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 308 KB

english, 2008

5

Interleukin-6 and Interleukin-1 receptor antagonist in cerebrospinal fluid from patients with recent tonic–clonic seizures

J Peltola, J Palmio, L Korhonen, J Suhonen, A Miettinen, M Hurme, D Lindholm, T Keränen

Journal:

Epilepsy Research

Year:

2000

Language:

english

File:

PDF, 93 KB

english, 2000

6

Regulation of cerebrospinal fluid levels of cytokines after seizures: the role of IL-6 and glutamic acid

K. A. Lehtimäki, T. Keränen, J. Palmio, S. Rainesalo, P. Saransaari, J. Peltola

Journal:

European Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

7

Increased plasma levels of cytokines after seizures in localization-related epilepsy

K. A. Lehtimäki, T. Keränen, J. Palmio, R. Mäkinen, M. Hurme, J. Honkaniemi, J. Peltola

Journal:

Acta Neurologica Scandinavica

Year:

2007

Language:

english

File:

PDF, 565 KB

english, 2007

8

Plasma and Cerebrospinal Fluid Amino Acids in Epileptic Patients

Sirpa Rainesalo, Tapani Keränen, Johanna Palmio, Jukka Peltola, Simo S. Oja, Pirjo Saransaari

Journal:

Neurochemical Research

Year:

2004

Language:

english

File:

PDF, 61 KB

english, 2004

9

Regulation of IL-6 system in cerebrospinal fluid and serum compartments by seizures: the effect of seizure type and duration

K.A Lehtimäki, T Keränen, H Huhtala, M Hurme, J Ollikainen, J Honkaniemi, J Palmio, J Peltola

Journal:

Journal of Neuroimmunology

Year:

2004

Language:

english

File:

PDF, 120 KB

english, 2004

10

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Johanna Palmio, Satu Sandell, Tiina Suominen, Sini Penttilä, Olayinka Raheem, Peter Hackman, Sanna Huovinen, Hannu Haapasalo, Bjarne Udd

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 435 KB

english, 2011

11

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Peter Hackman, Satu Sandell, Jaakko Sarparanta, Helena Luque, Sanna Huovinen, Johanna Palmio, Anders Paetau, Hannu Kalimo, Ibrahim Mahjneh, Bjarne Udd

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 347 KB

english, 2011

12

P2.48 Increasing number of new recessive mutations in ANO5: 11 different mutations in 27 patients

S. Penttilä, J. Palmio, T. Suominen, B. Udd

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

13

P2.51 Expanding phenotype with mutations in ANO5

J. Palmio, S. Penttilä, T. Suominen, B. Udd

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

14

Changes in plasma amino acids after electroconvulsive therapy of depressed patients

Johanna Palmio, Martti Huuhka, Pirjo Saransaari, Simo S. Oja, Jukka Peltola, Esa Leinonen, Jaana Suhonen, Tapani Keränen

Journal:

Psychiatry Research

Year:

2005

Language:

english

File:

PDF, 120 KB

english, 2005

15

Electroconvulsive therapy and biomarkers of neuronal injury and plasticity: Serum levels of neuron-specific enolase and S-100b protein

Johanna Palmio, Martti Huuhka, Seppo Laine, Heini Huhtala, Jukka Peltola, Esa Leinonen, Jaana Suhonen, Tapani Keränen

Journal:

Psychiatry Research

Year:

2010

Language:

english

File:

PDF, 171 KB

english, 2010

16

Cerebrospinal fluid tau as a marker of neuronal damage after epileptic seizure

Johanna Palmio, Jaana Suhonen, Tapani Keränen, Janne Hulkkonen, Jukka Peltola, Tuula Pirttilä

Journal:

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

17

Antiphospholipid and antinuclear antibodies in patients with epilepsy or new-onset seizure disorders

Jukka T Peltola, Anna-Maija Haapala, Jouko I Isojärvi, Anssi Auvinen, Johanna Palmio, Katja Latvala, Petri Kulmala, Seppo Laine, Outi Vaarala, Tapani Keränen

Journal:

The American Journal of Medicine

Year:

2000

Language:

english

File:

PDF, 70 KB

english, 2000

18

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.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

19

Normal CSF neuron-specific enolase and S-100 protein levels in patients with recent non-complicated tonic–clonic seizures

Johanna Palmio, Jukka Peltola, Pauli Vuorinen, Seppo Laine, Jaana Suhonen, Tapani Keränen

Journal:

Journal of the Neurological Sciences

Year:

2001

Language:

english

File:

PDF, 81 KB

english, 2001

20

Ubiquitin Carboxy-Terminal Hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure

Stefania Mondello, Johanna Palmio, Jackson Streeter, Ronald L Hayes, Jukka Peltola, Andreas Jeromin

Journal:

Year:

2012

Language:

english

File:

PDF, 287 KB

english, 2012

21

Immunological perspectives of temporal lobe seizures

Liimatainen, Suvi, Lehtimäki, Kai, Palmio, Johanna, Alapirtti, Tiina, Peltola, Jukka

Journal:

Journal of Neuroimmunology

Year:

2013

Language:

english

File:

PDF, 450 KB

english, 2013

22

Levels of IL-1β and IL-1ra in Cerebrospinal Fluid of Human Patients after Single and Prolonged Seizures

Lehtim&auml, ki, Kai A., Ker&auml, nen, Tapani, Palmio, Johanna, Peltola, Jukka

Journal:

NeuroImmunoModulation

Year:

2010

Language:

english

File:

PDF, 88 KB

english, 2010

23

Hereditary myopathy with early respiratory failure: occurrence in various populations

Palmio, J., Evila, A., Chapon, F., Tasca, G., Xiang, F., Bradvik, B., Eymard, B., Echaniz-Laguna, A., Laporte, J., Karppa, M., Mahjneh, I., Quinlivan, R., Laforet, P., Damian, M., Berardo, A., Taratut

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2014

Language:

english

File:

PDF, 480 KB

english, 2014

24

Erratum to ‘Immunological perspectives of temporal lobe seizures’ [J. Neuroimmunol., 263 (2013) 1–7]

Liimatainen, Suvi, Lehtimäki, Kai, Palmio, Johanna, Alapirtti, Tiina, Peltola, Jukka

Journal:

Journal of Neuroimmunology

Year:

2014

Language:

english

File:

PDF, 92 KB

english, 2014

25

P.5.13 Remarkable muscle pathology in DNAJB6 mutated LGMD1D

Sandell, S.M., Huovinen, S., Palmio, J.M., Haapasalo, H., Udd, B.A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

26

P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

Palmio, J., Evila, A., Tasca, G., Edstrom, L., Oldfors, A., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

27

P.15.5 An unsual phenotype of late onset desminopathy

Palmio, J.M., Penttilä, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

28

An unusual phenotype of late-onset desminopathy

Palmio, Johanna, Penttilä, Sini, Huovinen, Sanna, Haapasalo, Hannu, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 496 KB

english, 2013

29

Atypical phenotypes in titinopathies explained by second titin mutations

Evilä, Anni, Vihola, Anna, Sarparanta, Jaakko, Raheem, Olayinka, Palmio, Johanna, Sandell, Satu, Eymard, Bruno, Illa, Isabel, Rojas-Garcia, Ricard, Hankiewicz, Karolina, Negrão, Luis, Löppönen, Tuija,

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 2.79 MB

english, 2014

30

G.P.241

Jokela, M.E., Huovinen, S., Palmio, J., Penttilä, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

31

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.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 58 KB

english, 2014

32

G.P.283

Palmio, J.M.M., Evilä, A., Jonson, P.H., Auranen, M., Kiuru-Enari, S., Pihko, H., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

33

G.P.282

Jonson, P.H., Palmio, J., Sarparanta, J., Luque, H., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

34

Screening for late-onset Pompe disease in Finland

Palmio, Johanna, Auranen, Mari, Kiuru-Enari, Sari, Löfberg, Mervi, Bodamer, Olaf, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 182 KB

english, 2014

35

‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

Sandell, S. M., Mahjneh, I., Palmio, J., Tasca, G., Ricci, E., Udd, B. A.

Journal:

European Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 699 KB

english, 2013

36

Autoantibodies to glutamic acid decarboxylase in patients with therapy-resistant epilepsy

Peltola, J., Kulmala, P., Isojarvi, J., Saiz, A., Latvala, K., Palmio, J., Savola, K., Knip, M., Keranen, T., Graus, F.

Journal:

Year:

2000

Language:

english

File:

PDF, 341 KB

english, 2000

37

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis

Jokela, Manu E., Jääskeläinen, Satu K., Sandell, Satu, Palmio, Johanna, Penttilä, Sini, Saukkonen, Annamaija, Soikkeli, Raija, Udd, Bjarne

Journal:

Journal of the Neurological Sciences

Year:

2015

Language:

english

File:

PDF, 241 KB

english, 2015

38

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L. B., Clarke, N. F., Barboi, A., Hackman, P., Udd, B.

Journal:

Year:

2012

Language:

english

File:

PDF, 572 KB

english, 2012

39

OP46 – 2969: Novel phenotypes of childhood encephalomyopathies with mitochondrial DNA depletion or deletions

Hautakangas, M.R., Komulainen, T., Hinttala, R., Pakanen, S., Vähäsaija, V., Lehenkari, P., Olsen, P., Vieira, P., Saarenpää-Heikkilä, O., Palmio, J., Tuominen, H., Kinnunen, P., Majamaa, K., Rantala,

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 79 KB

english, 2015

40

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Auranen, M., Palmio, J., Ylikallio, E., Huovinen, S., Paetau, A., Sandell, S., Haapasalo, H., Viitaniemi, K., Piirila, P., Tyynismaa, H., Udd, B.

Journal:

Neurology: Genetics

Year:

2015

Language:

english

File:

PDF, 789 KB

english, 2015

41

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Palmio, Johanna, Jonson, Per Harald, Evilä, Anni, Auranen, Mari, Straub, Volker, Bushby, Kate, Sarkozy, Anna, Kiuru-Enari, Sari, Sandell, Satu, Pihko, Helena, Hackman, Peter, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.01 MB

english, 2015

42

New SCN4A mutations – unusual clinical phenotypes

Sandell, S., Palmio, J., Penttilä, S., Suominen, T., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

43

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.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

44

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Ghaoui, R., Palmio, J., Brewer, J., Lek, M., Needham, M., Evila, A., Hackman, P., Jonson, P.-H., Penttila, S., Vihola, A., Huovinen, S., Lindfors, M., Davis, R. L., Waddell, L., Kaur, S., Yiannikas, C

Journal:

Year:

2015

Language:

english

File:

PDF, 934 KB

english, 2015

45

Oral motor functions, speech and communication before a definitive diagnosis of amyotrophic lateral sclerosis

Makkonen, Tanja, Korpijaakko-Huuhka, Anna-Maija, Ruottinen, Hanna, Puhto, Riitta, Hollo, Kirsi, Ylinen, Aarne, Palmio, Johanna

Journal:

Journal of Communication Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

46

CSF and plasma adipokines after tonic–clonic seizures

Palmio, Johanna, Vuolteenaho, Katriina, Lehtimäki, Kai, Nieminen, Riina, Peltola, Jukka, Moilanen, Eeva

Journal:

Year:

2016

Language:

english

File:

PDF, 308 KB

english, 2016

47

A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

Palmio, J., Penttilä, S., Moilanen, J., Kärppä, M., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

48

A Finnish mutation in SCN4A gene causes predominantly myalgic phenotype

Palmio, J., Sandell, S., Penttilä, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

49

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Sandell, Satu, Huovinen, Sanna, Palmio, Johanna, Raheem, Olayinka, Lindfors, Mikaela, Zhao, Fang, Haapasalo, Hannu, Udd, Bjarne

Journal:

Acta Neuropathologica Communications

Year:

2016

Language:

english

File:

PDF, 1.97 MB

english, 2016

50

Increase in Plasma Proinflammatory Cytokines After Electroconvulsive Therapy in Patients With Depressive Disorder

Lehtimäki, Kai, Keränen, Tapani, Huuhka, Martti, Palmio, Johanna, Hurme, Mikko, Leinonen, Esa, Peltola, Jukka

Journal:

Year:

2008

Language:

english

File:

PDF, 99 KB

english, 2008

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