Publications by authors named "Anna Vihola"

43Publications

Panorama of the distal myopathies.

Acta Myol 2020 Dec 1;39(4):245-265. Epub 2020 Dec 1.

Folkhälsan Research Center, Helsinki, Finland.

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December 2020

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

New family with 8-associated autosomal dominant rimmed vacuolar myopathy.

Neurol Genet 2019 Aug 10;5(4):e349. Epub 2019 Jul 10.

Division of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.

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August 2019

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

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Neuromuscul Disord 2019 02 20;29(2):97-107. Epub 2018 Dec 20.

The Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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February 2019

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Neuromuscul Disord 2017 Nov 22;27(11):1009-1017. Epub 2017 Jun 22.

Newcastle University, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle upon Tyne, UK. Electronic address:

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November 2017

Increasing Role of Titin Mutations in Neuromuscular Disorders.

J Neuromuscul Dis 2016 08;3(3):293-308

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

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August 2016

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

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

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

Neurology 2015 Dec 18;85(24):2126-35. Epub 2015 Nov 18.

From INSERM (R.D.C., C.R., K.C., I.R.), U951; Généthon (R.D.C., C.R., K.C., I.R.), R&D Department, INTEGRARE Research Unit, Evry; Neuromuscular Morphology Unit, Myology Institute (N.B.R., M.B.), and INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology (R.B.Y., F.L., N.B.R., E.M., M.B., I.N., G.B.), Sorbonne Universités, UPMC Univ Paris 06, and AP-HP, University Hospital, Reference Center for Neuromuscular Diseases, Myology Institute (R.B.Y., N.B.R., E.M., B.E.), Groupe Hospitalier La Pitié-Salpêtrière, Paris; Génopole Campus 2 (S.B., A.C.), PartnerChip, Evry; the Department of Medical Genetics (F.L., A.V., B.U.), Folkhälsan Institute of Genetics, University of Helsinki, Finland; AP-HP (J.N.), Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris; CEA-IG-Centre National de Genotypage (L.B.A., C.C., R.O.), Evry; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and the Department of Neurology (B.U.), Vaasa Central Hospital, Finland. R.D.C. is currently affiliated with Disease Genomics Group, Institut de Medicina Predictiva i Personalitzada del Càncer, Campus de Can Ruti, Camí de les Escoles, Badalona (Barcelona), Spain.

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December 2015

Differential isoform expression and selective muscle involvement in muscular dystrophies.

Am J Pathol 2015 Oct 9;185(10):2833-42. Epub 2015 Aug 9.

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

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October 2015