J. Palmio

发表

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

E. Leinonen, J. Peltola, M. Hurme, 2008, The journal of ECT.

Atypical phenotypes in titinopathies explained by second titin mutations

I. Richard, B. Eymard, R. Rojas-García, 2014, Annals of neurology.

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

T. Pirttilä, J. Peltola, T. Keränen, 2009, Seizure.

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

E. Leinonen, H. Huhtala, J. Peltola, 2010, Psychiatry Research.

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

K. Majamaa, P. Lehenkari, P. Olsén, 2015, JIMD reports.

Plasma and Cerebrospinal Fluid Amino Acids in Epileptic Patients

J. Peltola, T. Keränen, J. Palmio, 2004, Neurochemical Research.

Association study reveals novel risk loci for sporadic inclusion body myositis

N. Sandholm, M. Mirabella, H. Lohi, 2017, European journal of neurology.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

J. Pouget, G. Tasca, B. Udd, 2017, Molecular Neurobiology.

Hereditary myopathy with early respiratory failure: occurrence in various populations

F. Chapon, T. Raivio, J. Bueri, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

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

H. Haapasalo, B. Udd, J. Palmio, 2011, Neuromuscular Disorders.

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

H. Haapasalo, B. Udd, J. Palmio, 2016, Acta neuropathologica communications.

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

A. Jeromin, R. Hayes, S. Mondello, 2012, BMC Neurology.

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

A. Ylinen, H. Ruottinen, J. Palmio, 2016, Journal of communication disorders.

‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

E. Ricci, G. Tasca, B. Udd, 2013, European journal of neurology.

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

M. Knip, A. Saiz, J. Peltola, 2000, Neurology.

Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.

T. Lehtimäki, R. Laaksonen, R. Krahe, 2014, The American journal of pathology.

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

H. Huhtala, J. Peltola, M. Hurme, 2004, Journal of Neuroimmunology.

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

A. Miettinen, J. Peltola, D. Lindholm, 2000, Epilepsy Research.

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

J. Peltola, T. Keränen, J. Palmio, 2008, Epilepsy Research.

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

J. Lahtela, P. Mattila, J. Palmio, 2018, Neurology: Genetics.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

I. Nelson, F. Chapon, I. Richard, 2018, European journal of neurology.

Immunological perspectives of temporal lobe seizures

J. Peltola, S. Liimatainen, K. Lehtimäki, 2013, Journal of Neuroimmunology.

Review article Immunological perspectives of temporal lobe seizures

J. Peltola, S. Liimatainen, J. Palmio, 2013 .

Variation in communication strategies in amyotrophic lateral sclerosis during a two-year follow-up

H. Ruottinen, J. Palmio, Tanja Makkonen, 2017 .

An unusual ryanodine receptor 1 (RYR1) phenotype

M. Pane, E. Mercuri, P. Hartikainen, 2019, Neurology.

Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy—a postal survey

B. Udd, K. Suokas, A. Hietaharju, 2018, Muscle & nerve.

Myofibrillar and distal myopathies.

B. Udd, J. Palmio, 2016, Revue neurologique.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

A. Paetau, S. Friant, B. Udd, 2018, Journal of Neurology.

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

B. Udd, J. Palmio, H. Tyynismaa, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

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

J. Peltola, M. Hurme, K. Lehtimäki, 2007, Acta neurologica Scandinavica.

CSF and plasma adipokines after tonic–clonic seizures

J. Peltola, K. Vuolteenaho, E. Moilanen, 2016, Seizure.

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

K. Claeys, C. Wallgren‐Pettersson, H. Granzier, 2022, Acta neuropathologica communications.

G.P.78 A Finnish mutation in SCN4A gene causes predominantly myalgic phenotype

B. Udd, J. Palmio, S. Sandell, 2015, Neuromuscular Disorders.

Speech deterioration in amyotrophic lateral sclerosis (ALS) after manifestation of bulbar symptoms.

Johanna Palmio, Mika Helminen, H. Ruottinen, 2018, International journal of language & communication disorders.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

M. Hauser, N. Katsanis, J. Stajich, 2012, Nature Genetics.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

K. Claeys, T. Stojkovic, W. Kress, 2019, Journal of Neurology.

Screening for late-onset Pompe disease in Finland

S. Kiuru-Enari, O. Bodamer, B. Udd, 2014, Neuromuscular Disorders.

Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

H. Zetterberg, S. Herukka, N. Huber, 2022, Frontiers in Cell and Developmental Biology.

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

B. Udd, J. Palmio, S. Penttilä, 2012, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

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

L. Waddell, N. Clarke, G. Tasca, 2012, Neurology.

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

B. Udd, J. Palmio, O. Raheem, 2016, PloS one.

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

R. Soikkeli, S. Jääskeläinen, B. Udd, 2015, Journal of the Neurological Sciences.

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

K. Bushby, F. Norwood, V. Straub, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

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

B. Udd, G. Solders, J. Palmio, 2015, Neuromuscular Disorders.

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

C. Weihl, B. Udd, J. Palmio, 2019, Neurology: Genetics.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

M. Hanna, B. Udd, J. Palmio, 2017, Neurology.

Novel valosin-containing protein mutations associated with multisystem proteinopathy

H. Yoshioka, M. Grafe, A. Lakatos, 2018, Neuromuscular Disorders.

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

A. Auvinen, O. Vaarala, J. Peltola, 2000, The American journal of medicine.

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

A. Paetau, H. Kalimo, B. Udd, 2011, Neuromuscular Disorders.

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

E. Kerty, I. Nishino, M. Nakagawa, 2019, Neuromuscular Disorders.

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

J. Peltola, T. Keränen, J. Palmio, 2001, Journal of the Neurological Sciences.

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

B. Udd, J. Palmio, A. Vihola, 2019, Journal of Neurology.

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

J. Peltola, K. Lehtimäki, T. Keränen, 2009, Neuroimmunomodulation.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Christopher E. Berndsen, E. Malfatti, N. Romero, 2017, PloS one.

Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease

B. Udd, J. Palmio, 2014, Front. Aging Neurosci..

TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018 .

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

D. MacArthur, M. Lek, L. Waddell, 2016, Neurology.

ANO5-Related Muscle Diseases

B. Udd, J. Palmio, S. Penttilä, 2012 .

G.P.169 Late-onset limb-girdle muscular dystrophy caused by GMPPB-mutation

B. Udd, G. Solders, J. Palmio, 2015, Neuromuscular Disorders.

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

F. García‐Bragado, B. Udd, J. Weinberg, 2019, Annals of neurology.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

B. Udd, J. Palmio, A. Vihola, 2021, bioRxiv.

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

V. Kimonis, M. Milone, T. Stojkovic, 2023, Annals of clinical and translational neurology.

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

W. Seeley, A. Al-Chalabi, A. Obenaus, 2022, Orphanet Journal of Rare Diseases.

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

K. Bushby, S. Kiuru-Enari, V. Straub, 2015, Neuromuscular Disorders.

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

B. Udd, J. Palmio, J. Moilanen, 2016, Clinical case reports.

Changes in plasma amino acids after electroconvulsive therapy of depressed patients

E. Leinonen, J. Peltola, T. Keränen, 2005, Psychiatry Research.

Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

J. Palmio, R. Pons, G. Papadimas, 2022, Frontiers in Neurology.

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

J. Peltola, K. Lehtimäki, T. Keränen, 2009, European Journal of Neurology.

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4

S. Cannon, M. Hanna, P. Shieh, 2019, Neurology.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

P. Piirilä, L. Uotila, B. Udd, 2016, Front. Neurol..

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

A. Paetau, P. Piirilä, H. Haapasalo, 2015, Neurology: Genetics.

Risk of vascular diseases in patients with dermatitis herpetiformis and coeliac disease: a long-term cohort study

K. Kaukinen, T. Reunala, H. Huhtala, 2023, Annals of medicine.

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Lehtinen, B. Udd, J. Palmio, 2019, Journal of Neurology.

P.11 A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy

F. Chapon, E. Malfatti, A. Laquérriere, 2016, Neuromuscular Disorders.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Yoshihiko Saito, K. Claeys, E. Malfatti, 2023, Journal of Neurology.

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

J. Lahtela, P. Mattila, J. Palmio, 2018, Neurology: Genetics.

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

L. Waddell, N. Clarke, G. Tasca, 2012, Neurology.

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

E. Leinonen, J. Peltola, M. Hurme, 2008, The journal of ECT.

The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK

T. Strandberg, L. Hokkanen, P. Tienari, 2023, bioRxiv.

Provisional practice recommendation for the management of Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy myopathy in VCP-associated multisystem proteinopathy

M. Milone, M. Freimer, J. Palmio, 2022 .