Bjarne Udd

Bjarne Udd

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Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Int J Mol Sci 2020 Feb 19;21(4). Epub 2020 Feb 19.

Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.

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http://dx.doi.org/10.3390/ijms21041409DOI Listing
February 2020

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

Valosin-containing protein-related myopathy and Meige syndrome: Just a coincidence or not?

Muscle Nerve 2019 12 23;60(6):E43-E45. Epub 2019 Oct 23.

First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Greece.

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http://dx.doi.org/10.1002/mus.26704DOI Listing
December 2019

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscul Disord 2019 11 16;29(11):827-841. Epub 2019 Sep 16.

Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.011DOI Listing
November 2019

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

Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.

Neuromuscul Disord 2019 08 12;29(8):628-633. Epub 2019 Jun 12.

Department of Neurology, Huashan Hospital Fudan University, Shanghai 200040, China. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.06.005DOI Listing
August 2019

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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http://dx.doi.org/10.1212/NXG.0000000000000349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659134PMC
August 2019

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

Neurol Clin Pract 2019 Aug;9(4):343-353

Ludwig-Maximilians- Universität (BS); Friedrich-Baur-Institut (FM), Munich, Germany; Institut de Myologie (GB), Paris, France; U.O. Neurologia (BF), IRCCS Policlinico San Donato, Milan, Italy; Vall d'Hebron University Hospital (JG), Barcelona, Spain; University of Rochester (CH, JH, RM, CT), Rochester, NY; University Hospital of Bonn (CK), Germany; Medical University of Warsaw (AK-P), Poland; University of Texas (RK) MD Anderson cancer center; Medical University of Warsaw (AL), Poland; Department of Biomedical Sciences for health (GM), University of Milan, Italy; Tampere University (BU), Finland; Myotonic Dystrophy Foundation (PF), San Francisco.

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http://dx.doi.org/10.1212/CPJ.0000000000000645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745739PMC
August 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

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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http://dx.doi.org/10.1212/NXG.0000000000000337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515942PMC
June 2019

Involuntary movements, vocalizations and cognitive decline.

Parkinsonism Relat Disord 2019 May 29. Epub 2019 May 29.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.05.029DOI Listing
May 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

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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http://dx.doi.org/10.1212/WNL.0000000000007185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453767PMC
March 2019

Clinical Reasoning: A 54-year-old man with dyspnea and muscle weakness.

Neurology 2019 03;92(10):e1136-e1140

From the Departments of Neurology (A.C., M.S., L.B., F.P., L.L.C., R.R.) and Respiratory Medicine (E.B.), Hospital Británico de Buenos Aires, Argentina; Folkhälsan Institute of Genetics (B.U.), Helsinki University; Tampere Neuromuscular Center (B.U.), Tampere University and University Hospital; and Neurology Department (B.U.), Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000007040DOI Listing
March 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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183056
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http://dx.doi.org/10.1016/j.nmd.2018.12.007DOI Listing
February 2019

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017.

Neuromuscul Disord 2018 12 25;28(12):1022-1030. Epub 2018 Sep 25.

UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515901PMC
December 2018

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

J Neuromuscul Dis 2018;5(3):307-314

The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland.

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http://dx.doi.org/10.3233/JND-170298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087456PMC
November 2018

WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred.

Parkinsonism Relat Disord 2018 Oct 8. Epub 2018 Oct 8.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183039
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http://dx.doi.org/10.1016/j.parkreldis.2018.09.014DOI Listing
October 2018

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Neuromuscul Disord 2018 08 24;28(8):702-710. Epub 2018 May 24.

Department of Neurology, Neuromuscular Research Center, Tampere University and University Hospital, Neurology, Tampere, Finland; The 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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http://dx.doi.org/10.1016/j.nmd.2018.05.007DOI Listing
August 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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http://dx.doi.org/10.1002/mus.26050DOI Listing
June 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
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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https://linkinghub.elsevier.com/retrieve/pii/S09608966183001
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http://dx.doi.org/10.1016/j.nmd.2018.04.007DOI Listing
June 2018

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

Eur J Hum Genet 2018 03 22;26(3):367-373. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.

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http://dx.doi.org/10.1038/s41431-017-0003-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839054PMC
March 2018

Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.

Neuromuscul Disord 2018 03 12;28(3):268-276. Epub 2017 Dec 12.

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

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http://dx.doi.org/10.1016/j.nmd.2017.12.002DOI Listing
March 2018

The complexity of titin splicing pattern in human adult skeletal muscles.

Skelet Muscle 2018 03 29;8(1):11. Epub 2018 Mar 29.

Folkhälsan Research Center, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1186/s13395-018-0156-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874998PMC
March 2018

Distal myopathies in Finnish patients.

Duodecim 2016;132(18):1635-44

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January 2018

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Neurol Genet 2017 Dec 11;3(6):e204. Epub 2017 Dec 11.

Folkhälsan Institute of Genetics (S.V., M.S., M.J., L.S., M.A., K.K., K.P., B.U., P.H.), Medicum, Faculty of Biological and Environmental Sciences (K.P.), University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University and University Hospital, Finland; Department of Neurology (B.U.), Vaasa Central Hospital, Finland; Biodonostia Health Research Institute (A.S., A.L.D.M), Neurosciences Area, CIBERNED, University of the Basque Country, San Sebastián, Spain; and Centre de Référence Maladies Neuromusculaires (GNMH) (A.-M.C.), Hôpital Marin APHP, Hendaye, France.

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http://dx.doi.org/10.1212/NXG.0000000000000204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140371PMC
December 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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http://dx.doi.org/10.1007/s12035-016-0242-3DOI Listing
November 2017

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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http://dx.doi.org/10.1016/j.nmd.2017.06.013DOI Listing
November 2017

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

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

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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http://dx.doi.org/10.1016/j.nmd.2017.04.006DOI Listing
July 2017

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016.

Neuromuscul Disord 2017 04 16;27(4):396-407. Epub 2017 Jan 16.

Unité de Biologie Fonctionnelle et Adaptative, Université Paris Diderot/CNRS, France; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, AP-HP, France.

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http://dx.doi.org/10.1016/j.nmd.2017.01.009DOI Listing
April 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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http://dx.doi.org/10.1212/WNL.0000000000003846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395072PMC
April 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

Epidermolysis bullosa simplex with muscular dystrophy associated with deletion mutation.

Neurol Genet 2016 Dec 11;2(6):e109. Epub 2016 Oct 11.

Instituto de Investigaciones Médicas Dr. A. Lanari (V.C.A., V.L.S., C.G.M.), Buenos Aires, Argentina; Neuromuscular Research Center (S.T.P., B.U.), Tampere University and University Hospital, Folkhälsan Genetic Institute (B.U.), and Vasa Central Hospital (B.U.), Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061415PMC
December 2016

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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http://dx.doi.org/10.1002/ccr3.722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134137PMC
December 2016

[Finland: an ideally valued genetic heritage].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:52-54. Epub 2016 Nov 21.

Hôpital Marin, Centre GNMH, FILNEMUS, Hendaye, France.

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http://www.medecinesciences.org/10.1051/medsci/201632s215
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http://dx.doi.org/10.1051/medsci/201632s215DOI Listing
November 2016

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

J Neurol 2016 Oct 20;263(10):2133-5. Epub 2016 Aug 20.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00415-016-8268-zDOI Listing
October 2016

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

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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http://dx.doi.org/10.3233/JND-160158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123623PMC
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

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

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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http://dx.doi.org/10.3389/fneur.2016.00082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885106PMC
June 2016

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

J Neuromuscul Dis 2016 05;3(2):275-281

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

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http://dx.doi.org/10.3233/JND-150143DOI Listing
May 2016

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

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

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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http://dx.doi.org/10.1186/s40478-016-0276-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743201PMC
February 2016

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Neuromuscul Disord 2016 Jan 25;26(1):7-15. Epub 2015 Nov 25.

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

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http://dx.doi.org/10.1016/j.nmd.2015.10.003DOI Listing
January 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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http://dx.doi.org/10.1212/WNL.0000000000002324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776089PMC
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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685PMC
December 2015

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

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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http://dx.doi.org/10.1016/j.nmd.2015.07.014DOI Listing
November 2015

Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.

Muscle Nerve 2015 Oct 3;52(4):673-80. Epub 2015 Jun 3.

Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.

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http://dx.doi.org/10.1002/mus.24664DOI Listing
October 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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http://dx.doi.org/10.1016/j.ajpath.2015.06.018DOI Listing
October 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

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Neurology 2015 Aug 24;85(8):665-74. Epub 2015 Jul 24.

From the Department of Neurology (R.C.B., K.A., A.P., S.K.P., M.B.H., C.C.W.), Washington University School of Medicine, Saint Louis, MO; Dent Neurologic Institute (L.R.), Amherst, NY; Department of Neurogenetics (C.M.S.), Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, New South Wales, Australia; Folkhalsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., B.U.), Haartman Institute, University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000001864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553032PMC
August 2015

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Hum Mol Genet 2015 Jul 15;24(13):3718-31. Epub 2015 Apr 15.

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

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http://dx.doi.org/10.1093/hmg/ddv116DOI Listing
July 2015

No cardiomyopathy in X-linked myopathy with excessive autophagy.

Neuromuscul Disord 2015 Jun 17;25(6):485-7. Epub 2015 Mar 17.

Program in Genetics and Genome Biology and Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.nmd.2015.03.003DOI Listing
June 2015

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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http://dx.doi.org/10.1212/NXG.0000000000000007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821086PMC
June 2015

Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.

PLoS One 2014 11;9(3):e90819. Epub 2014 Mar 11.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949689PMC
May 2015

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.

J Neurol Sci 2015 Apr 6;351(1-2):120-123. Epub 2015 Mar 6.

Department of Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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April 2015

When myopathy breaks the rules: a late-onset distal presentation.

BMJ Case Rep 2015 Apr 24;2015. Epub 2015 Apr 24.

Department of Neurosciences, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

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http://dx.doi.org/10.1136/bcr-2015-209436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420815PMC
April 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
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January 2015

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L.

Neuromuscul Disord 2014 Dec 9;24(12):1118-9. Epub 2014 Jul 9.

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

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December 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

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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https://www.frontiersin.org/articles/10.3389/fnagi.2014.0026
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4179539PMC
October 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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http://dx.doi.org/10.1016/j.ajpath.2014.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116696PMC
August 2014

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Brain 2014 Jun 24;137(Pt 6):e279. Epub 2014 Feb 24.

4 Randall Division for Cell and Molecular Biophysics and Cardiovascular Division, King's College London, London, UK

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http://dx.doi.org/10.1093/brain/awu033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032095PMC
June 2014

Distal myopathies.

Authors:
Bjarne Udd

Curr Neurol Neurosci Rep 2014 Mar;14(3):434

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

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http://dx.doi.org/10.1007/s11910-013-0434-4DOI Listing
March 2014