Manu Jokela

Manu Jokela

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Manu Jokela

Manu Jokela

Publications by authors named "Manu Jokela"

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Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.

J Neuromuscul Dis 2019;6(1):143-146

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

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http://dx.doi.org/10.3233/JND-180350DOI Listing
January 2020

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

Neuromuscul Disord 2019 Nov 19. 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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http://dx.doi.org/10.1016/j.nmd.2019.11.005DOI Listing
November 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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http://dx.doi.org/10.1007/s00415-019-09307-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586699PMC
July 2019

Oligogenic basis of sporadic ALS: The example of p.Ala90Val mutation.

Neurol Genet 2019 Jun 23;5(3):e335. Epub 2019 Apr 23.

Department of Clinical Genetics (L.K.), Helsinki University Hospital; Department of Medical Genetics (L.K.), University of Helsinki, Helsinki, Finland; Molecular Neurology (K.K., M.V., P.J.T.), Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Department of Medical Genetics (S.M.), University of Helsinki, Helsinki, Finland and Turku; University Hospital (S.M.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Neurology (H.L.), Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center (M.J., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Division of Clinical Neurosciences (M.J.), Turku University Hospital and University of Turku, Turku, Finland; Folkhälsan Research Center (B.U.), Biomedicum, University of Helsinki, Helsinki, Finland; Institute of Biomedicine (P.P., J.S.), University of Turku; Turku University Hospital (P.P., J.S.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Pathology (A.P.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Laboratory of Neurogenetics (B.J.T.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Merck & Co. (D.J.S.), Inc., West Point, PA; Department of Clinical Genetics (M.P.), Helsinki University Hospital; Department of Medical Genetics (M.P.), University of Helsinki, Helsinki, Finland; Department of Neurology (P.J.T.), Helsinki University Hospital; and Department of Pathology (L.M.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481226PMC
June 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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http://dx.doi.org/10.1212/WNL.0000000000007246DOI Listing
April 2019

Distal myopathies in Finnish patients.

Duodecim 2016;132(18):1635-44

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January 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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http://dx.doi.org/10.1016/j.nmd.2017.06.014DOI Listing
October 2017

Botulinum toxin alleviates dysphagia of patients with inclusion body myositis.

J Neurol Sci 2017 Sep 24;380:142-147. Epub 2017 Jul 24.

Department of Otorhinolaryngology-Head and Neck Surgery, Turku University Hospital and University of Turku, Turku, Finland.

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http://dx.doi.org/10.1016/j.jns.2017.07.031DOI Listing
September 2017

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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http://dx.doi.org/10.1136/jnnp-2016-314154DOI Listing
March 2017

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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151376PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4801364PMC
August 2016

Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation.

J Neurol 2016 Jul 13;263(7):1461-2. Epub 2016 May 13.

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

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http://dx.doi.org/10.1007/s00415-016-8134-zDOI Listing
July 2016

Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.

J Mol Neurosci 2016 Mar 16;58(3):330-4. Epub 2015 Nov 16.

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

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http://dx.doi.org/10.1007/s12031-015-0684-5DOI Listing
March 2016

Reply: To PMID 25428574.

Ann Neurol 2015 Nov 31;78(5):831-2. Epub 2015 Aug 31.

Department of Neurology, Vasa Central Hospital, Helsinki.

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http://dx.doi.org/10.1002/ana.24465DOI Listing
November 2015

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

J Neurol Sci 2015 Aug 3;355(1-2):143-6. Epub 2015 Jun 3.

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

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http://dx.doi.org/10.1016/j.jns.2015.06.002DOI Listing
August 2015

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Ann Neurol 2015 Jan 12;77(1):163-72. Epub 2014 Dec 12.

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

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http://doi.wiley.com/10.1002/ana.24319
Publisher Site
http://dx.doi.org/10.1002/ana.24319DOI Listing
January 2015

Late-onset spinal motor neuronopathy - a common form of dominant SMA.

Neuromuscul Disord 2014 Mar 26;24(3):259-68. Epub 2013 Nov 26.

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

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http://dx.doi.org/10.1016/j.nmd.2013.11.010DOI Listing
March 2014

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

Eur J Hum Genet 2012 Nov 25;20(11):1193-6. Epub 2012 Apr 25.

Neuromuscular Research Unit, University of Tampere, Tampere, Finland.

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http://dx.doi.org/10.1038/ejhg.2012.76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477865PMC
November 2012

Double trouble: spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient.

Neuromuscul Disord 2012 Feb 20;22(2):129-30. Epub 2011 Aug 20.

Department of Neurology, Turku University Central Hospital, Turku, Finland.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661101316
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http://dx.doi.org/10.1016/j.nmd.2011.07.011DOI Listing
February 2012