Publications by authors named "Johanna Palmio"

54Publications

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Neuromuscul Disord 2020 01 19;30(1):38-46. Epub 2019 Nov 19.

Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.

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January 2020

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

Neurol Genet 2019 Jun 2;5(3):e337. Epub 2019 May 2.

Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V.), Medicum, University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University and University Hospital of Tampere, Finland; Neuromuscular Unit (O.D.), Division of Neurology, Department of Clinical and Experimental Medicine, Linköping University, Sweden; Neuromuscular Research Center (S. Penttilä), Tampere University and University Hospital of Tampere, Finland; Department of Neurology (D.L.), Department of Neurology (S. Pittman), Department of Neurology (C.W.), Washington University School of Medicine, Saint Louis, MO; Folkhälsan Institute of Genetics and Department of Medical Genetics (B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (B.U.), Tampere University and University Hospital of Tampere; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

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June 2019

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

J Neurol 2019 Jul 8;266(7):1649-1654. Epub 2019 Apr 8.

Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, Tampere, Finland.

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July 2019

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Neurology 2019 04 6;92(14):e1600-e1609. Epub 2019 Mar 6.

From the Neuromuscular Research Center (M. Jokela, S.L., J.P., B.U.), Department of Neurology, University Hospital and University of Tampere; Division of Clinical Neurosciences (M. Jokela), Department of Neurology, Turku University Hospital and University of Turku; Kiinamyllynkatu 4-8 (M. Jokela), Turku, Finland; Unità Operativa Complessa di Neurologia (G.T.), Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V., P.-H.J., S.V., M. Johari, M.S.), Haartman Institute, University of Helsinki, Finland; Institute of Pediatric Neurology (E.M., M.P.), Catholic University School of Medicine, Rome, Italy; Department of Pathology (S.H.), Fimlab Laboratories, Tampere University Hospital, Finland; Metabolic and Neuromuscular Unit (M.D.), Meyer Hospital, Florence, Italy; Department of Pediatric Neurology (P.I.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Department of Neurology (P.H.), Kuopio University Hospital and University of Eastern Finland; and Department of Neurology (B.U.), Vasa Central Hospital, Finland.

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April 2019

Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4.

Neurology 2019 03 1;92(13):e1405-e1415. Epub 2019 Mar 1.

From the Departments of Physiology (N.E., M.Q., S.C.C.) and Neurology (P.B.S.), David Geffen School of Medicine at UCLA; Molecular and Cellular Integrative Physiology Program at UCLA (N.E., S.C.C.), Los Angeles, CA; Tampere Neuromuscular Center (J.P., T.S., B.U.), Tampere University and University Hospital, Finland; MRC Centre for Neuromuscular Diseases (M.S.C., M.G.H., R.M.), Department of Neuromuscular Disease, UCL Institute of Neurology, London, UK; Folkhälsan Genetic Institute (B.U.), Helsinki; and Neurology Department (B.U.), Vasa Central Hospital, Finland.

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March 2019

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

Neurol Genet 2018 Jun 5;4(3):e244. Epub 2018 Jun 5.

Research Programs Unit (M.T.S., E.Y., L.M., M.A., H.T.), Molecular Neurology, University of Helsinki; Clinical Neurosciences, Neurology (E.Y., M.A.), University of Helsinki and Helsinki University Hospital; Institute for Molecular Medicine Finland (FIMM) (J.L., P.M.), University of Helsinki; Neuromuscular Research Center (J.P.), Tampere University Hospital and University of Tampere; and Department of Medical and Clinical Genetics (H.T.), University of Helsinki, Finland.

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June 2018

Novel valosin-containing protein mutations associated with multisystem proteinopathy.

Neuromuscul Disord 2018 06 17;28(6):491-501. Epub 2018 Apr 17.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA. Electronic address:

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June 2018

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

Muscle Nerve 2018 06 11;57(6):1014-1017. Epub 2018 Jan 11.

Department of Neurology, Tampere University Hospital, P.O. Box 2000 FI-33521, Tampere, Finland.

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June 2018

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

Int J Lang Commun Disord 2018 03 21;53(2):385-392. Epub 2017 Nov 21.

Neuromuscular Research Center, University of Tampere and, Tampere University Hospital, Tampere, Finland.

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March 2018

Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy.

Neuromuscul Disord 2017 10 23;27(10):962-963. Epub 2017 Jun 23.

Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland; Department of Neurology, Vasa Central Hospital, Vasa, Finland; Folkhälsan Genetic Institute, Department of Medical Genetics, Helsinki University, Helsinki, Finland.

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October 2017

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

Neuromuscul Disord 2017 Jul 18;27(7):627-630. Epub 2017 Apr 18.

Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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July 2017

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

Neurology 2017 Apr 22;88(16):1520-1527. Epub 2017 Mar 22.

From the Neuromuscular Research Center (J.P., S.P., B.U.), Department of Neurology, Tampere University and University Hospital, Neurology; Seinäjoki Central Hospital (S.S.), Department of Neurology, Finland; MRC Centre for Neuromuscular Disease (M.G.H., R.M.), UCL Institute of Neurology, Queen Square, London, UK; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Vaasa Central Hospital (B.U.), Department of Neurology, Finland.

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April 2017

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

Clin Case Rep 2016 12 26;4(12):1151-1156. Epub 2016 Oct 26.

Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Tampere Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics Haartman Institute University of Helsinki Helsinki Finland; Department of Neurology Vaasa Central Hospital Vaasa Finland.

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December 2016

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

J Neurol Neurosurg Psychiatry 2017 03 3;88(3):272-277. Epub 2016 Nov 3.

Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.

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March 2017

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

Mol Neurobiol 2017 11 29;54(9):7212-7223. Epub 2016 Oct 29.

Folkhälsan Institute of Genetics, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

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November 2017

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

Front Neurol 2016 30;7:82. Epub 2016 May 30.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Clinical Neurosciences, Neurology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

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June 2016

CSF and plasma adipokines after tonic-clonic seizures.

Seizure 2016 Jul 4;39:10-12. Epub 2016 May 4.

The Immunopharmacology Research Group, University of Tampere and Tampere University Hospital, 33014 Tampere, Finland. Electronic address:

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July 2016

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

J Commun Disord 2016 May-Jun;61:97-105. Epub 2016 Apr 6.

Neuromuscular Research Center, University of Tampere and Tampere University Hospital, P.O. Box 2000, FI-33521 Tampere, Finland. Electronic address:

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November 2017

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

Neurol Genet 2015 Jun 4;1(1):e7. Epub 2015 Jun 4.

Research Programs Unit (M.A., E.Y., H.T.), Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Neuromuscular Research Center (J.P., S.S., K.V., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Department of Pathology (S.H., H.H.), Fimlab Laboratories, University Hospital and University of Tampere, Tampere, Finland; Department of Pathology (A.P.), HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Neurology (S.S.), Seinäjoki Central Hospital, Seinäjoki, Finland; and Unit of Clinical Physiology (P.P.), HUS Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.

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June 2015

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

PLoS One 2016 21;11(3):e0151376. Epub 2016 Mar 21.

Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland.

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August 2016

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

Acta Neuropathol Commun 2016 Feb 5;4. Epub 2016 Feb 5.

Department of Neurology, Tampere University Hospital, Tampere, Finland.

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February 2016

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

Neurology 2016 Jan 30;86(4):391-8. Epub 2015 Dec 30.

From the Institute for Neuroscience and Muscle Research (R.G., L.W., S.K., N.C.), Kids Research Institute, Children's Hospital at Westmead & University of Sydney, Australia; Neuromuscular Research Center, Department of Neurology (J.P., S.P., M.L., B.U.), and Department of Pathology, Fimlab Laboratories (S.H.), Tampere University Hospital and University of Tampere, Finland; Department of Pathology (J.B.), Royal North Shore Hospital, Sydney, Australia; Broad Institute of Harvard and MIT (M.L., D.G.M.), Cambridge, MA; Western Australian Neurosciences Research Institute (M.N.), University of Western Australia, Perth; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., P.H.-J., A.V., B.U.), University of Helsinki, Finland; Department of Neurogenetics (R.L.D., C.Y., C.M.S.), Kolling Institute, Royal North Shore Hospital and University of Sydney; Murdoch Children's Research Institute (K.N.), The Royal Children's Hospital, Melbourne, Australia; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.

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January 2016

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

Neuromuscul Disord 2015 Nov 27;25(11):835-42. Epub 2015 Jul 27.

Department of Neurology, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, FIN-33014, Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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November 2015

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

J Neurol Neurosurg Psychiatry 2016 Apr 7;87(4):448-50. Epub 2015 May 7.

Department of Neurology, Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland Department of Neurology, Vasa Central Hospital, Vasa, Finland.

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April 2016

Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.

Front Aging Neurosci 2014 29;6:267. Epub 2014 Sep 29.

Department of Neurology, Neuromuscular Research Center, Tampere University Hospital, University of Tampere , Tampere , Finland ; Department of Medical Genetics, Folkhälsan Institute of Genetics, University of Helsinki , Helsinki , Finland ; Department of Neurology, Vaasa Central Hospital , Vaasa , Finland.

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October 2014

Screening for late-onset Pompe disease in Finland.

Neuromuscul Disord 2014 Nov 28;24(11):982-5. Epub 2014 Jun 28.

Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neurology Department, Vaasa Central Hospital, Vaasa, Finland.

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November 2014

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

Am J Pathol 2014 Aug 5;184(8):2322-32. Epub 2014 Jun 5.

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neuromuscular Research Centre, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland. Electronic address:

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August 2014

Immunological perspectives of temporal lobe seizures.

J Neuroimmunol 2013 Oct 13;263(1-2):1-7. Epub 2013 Aug 13.

Department of Neurology and Rehabilitation, Tampere University Hospital, P.O. Box 2000, 33521, Tampere, Finland; Emergency Department Acuta, Tampere University Hospital, P.O. Box 2000, 33521, Tampere, Finland. Electronic address:

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October 2013

An unusual phenotype of late-onset desminopathy.

Neuromuscul Disord 2013 Nov 30;23(11):922-3. Epub 2013 Jul 30.

Neuromuscular Research Unit, University of Tampere and Tampere University Hospital, Tampere, Finland. Electronic address:

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November 2013

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

Neuromuscul Disord 2011 Aug;21(8):551-5

Neuromuscular Research Unit, Department of Neurology, University Hospital and University of Tampere, Finland.

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August 2011

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

Neuromuscul Disord 2011 May 3;21(5):338-44. Epub 2011 Mar 3.

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

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May 2011

Levels of IL-1beta and IL-1ra in cerebrospinal fluid of human patients after single and prolonged seizures.

Neuroimmunomodulation 2010 5;17(1):19-22. Epub 2009 Oct 5.

Department of Neurosurgery, Tampere University Hospital, FI-33521 Tampere, Finland.

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January 2010

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

Seizure 2009 Sep 9;18(7):474-7. Epub 2009 May 9.

Department of Neurology, University of Tampere, FIN-33014 Tampere, Finland.

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September 2009

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

Epilepsy Res 2008 Oct 1;81(2-3):155-60. Epub 2008 Jul 1.

Department of Neurology, University of Tampere, FIN-33014 Tampere, Finland.

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October 2008

Changes in plasma amino acids after electroconvulsive therapy of depressed patients.

Psychiatry Res 2005 Dec 17;137(3):183-90. Epub 2005 Nov 17.

Department of Neurology, University of Tampere, and Department of Neurology, Tampere University Hospital, Tampere, Finland.

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December 2005

Plasma and cerebrospinal fluid amino acids in epileptic patients.

Neurochem Res 2004 Jan;29(1):319-24

Brain Research Center, Medical School, University of Tampere, Finland.

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January 2004