Sanna Huovinen, MD

Sanna Huovinen

MD

Introduction

Publications

27Publications

655Reads

33Profile Views

3PubMed Central Citations

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
1 Read

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
10 Reads
3.377 Impact Factor

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
5 Reads
8.286 Impact Factor

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
29 Reads
2.638 Impact Factor

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
6 Reads

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
17 Reads
3.234 Impact Factor

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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http://jnnp.bmj.com/content/87/4/448.full.pdf
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-309349
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http://dx.doi.org/10.1136/jnnp-2014-309349DOI Listing
April 2016
22 Reads
6.810 Impact Factor

Myxoinflammatory fibroblastic sarcoma of the nose: First reported case at an unusual location (nasal dorsum), with a review of the literature.

Ear Nose Throat J 2016 Mar;95(3):E32-5

Department of Ear and Oral Diseases, Tampere University Hospital, PO Box 2000, 33 521 Tampere, Finland.

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http://dx.doi.org/10.1177/014556131609500304DOI Listing
March 2016
3 Reads
0.881 Impact Factor

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
13 Reads

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
90 Reads
8.290 Impact Factor

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
30 Reads
4.591 Impact Factor

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
32 Reads
3 Citations

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
63 Reads
2.640 Impact Factor

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://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090819PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3949689PMC
May 2015
21 Reads
3.234 Impact Factor

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
38 Reads
2.640 Impact Factor

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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http://dx.doi.org/10.1016/j.nmd.2013.06.374DOI Listing
November 2013
4 Reads
2.640 Impact Factor

Diazoxide may protect endothelial glycocalyx integrity during coronary artery bypass grafting.

Scand Cardiovasc J 2012 Dec 31;46(6):339-44. Epub 2012 Aug 31.

Heart Center, Cardiac Research, Tampere University Hospital and Tampere University, Tampere, Finland.

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http://dx.doi.org/10.3109/14017431.2012.717303DOI Listing
December 2012
4 Reads
1.104 Impact Factor

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

Muscle Nerve 2012 Nov 31;46(5):730-7. Epub 2012 Aug 31.

Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI-00014, Finland.

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http://dx.doi.org/10.1002/mus.23380DOI Listing
November 2012
18 Reads
2.283 Impact Factor

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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http://dx.doi.org/10.1016/j.nmd.2011.05.008DOI Listing
August 2011
8 Reads
2.640 Impact Factor

Pediatric Cushing's disease due to pituitary hyperplasia.

J Pediatr Endocrinol Metab 2011 ;24(3-4):191-2

Department of Pediatrics, Central Hospital of Vaasa, Vaasa, Finland.

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http://dx.doi.org/10.1515/jpem.2011.095DOI Listing
July 2011
1 Read
0.711 Impact Factor

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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http://dx.doi.org/10.1016/j.nmd.2011.02.008DOI Listing
May 2011
54 Reads
2.640 Impact Factor

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.

J Neurol Neurosurg Psychiatry 2010 Nov 22;81(11):1200-2. Epub 2010 Jun 22.

Département de Neurologie, Centre de Référence des Maladies Neuromusculaires, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, 49933 Angers Cedex 9, France.

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http://dx.doi.org/10.1136/jnnp.2009.178434DOI Listing
November 2010
2 Reads
6.810 Impact Factor

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

J Neurol Neurosurg Psychiatry 2010 Aug;81(8):834-9

Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland.

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http://dx.doi.org/10.1136/jnnp.2009.192351DOI Listing
August 2010
36 Reads
6.810 Impact Factor

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers.

Acta Neuropathol 2010 Apr 28;119(4):495-500. Epub 2010 Jan 28.

Department of Neurology, Neuromuscular Molecular Pathology, University of Tampere, Biokatu 10, Finn-Medi 3, 33520 Tampere, Finland.

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http://dx.doi.org/10.1007/s00401-010-0643-8DOI Listing
April 2010
7 Reads
10.762 Impact Factor