Publications by authors named "Mikko Muona"

17Publications

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Eur J Med Genet 2020 Mar 16;63(3):103766. Epub 2019 Sep 16.

Folkhälsan Research Center, Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103766DOI Listing
March 2020

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

Epileptic Disord 2017 Jun;19(2):147-151

Istanbul University, Cerrahpasa School of Medicine, Department of Neurology, Istanbul.

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http://dx.doi.org/10.1684/epd.2017.0911DOI Listing
June 2017

Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 09;48(10):1296

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http://dx.doi.org/10.1038/ng1016-1296cDOI Listing
September 2016

Progressive myoclonus epilepsy associated with SACS gene mutations.

Neurol Genet 2016 Aug 23;2(4):e83. Epub 2016 Jun 23.

Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936476PMC
August 2016

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

Authors:
Padhraig Gormley Verneri Anttila Bendik S Winsvold Priit Palta Tonu Esko Tune H Pers Kai-How Farh Ester Cuenca-Leon Mikko Muona Nicholas A Furlotte Tobias Kurth Andres Ingason George McMahon Lannie Ligthart Gisela M Terwindt Mikko Kallela Tobias M Freilinger Caroline Ran Scott G Gordon Anine H Stam Stacy Steinberg Guntram Borck Markku Koiranen Lydia Quaye Hieab H H Adams Terho Lehtimäki Antti-Pekka Sarin Juho Wedenoja David A Hinds Julie E Buring Markus Schürks Paul M Ridker Maria Gudlaug Hrafnsdottir Hreinn Stefansson Susan M Ring Jouke-Jan Hottenga Brenda W J H Penninx Markus Färkkilä Ville Artto Mari Kaunisto Salli Vepsäläinen Rainer Malik Andrew C Heath Pamela A F Madden Nicholas G Martin Grant W Montgomery Mitja I Kurki Mart Kals Reedik Mägi Kalle Pärn Eija Hämäläinen Hailiang Huang Andrea E Byrnes Lude Franke Jie Huang Evie Stergiakouli Phil H Lee Cynthia Sandor Caleb Webber Zameel Cader Bertram Muller-Myhsok Stefan Schreiber Thomas Meitinger Johan G Eriksson Veikko Salomaa Kauko Heikkilä Elizabeth Loehrer Andre G Uitterlinden Albert Hofman Cornelia M van Duijn Lynn Cherkas Linda M Pedersen Audun Stubhaug Christopher S Nielsen Minna Männikkö Evelin Mihailov Lili Milani Hartmut Göbel Ann-Louise Esserlind Anne Francke Christensen Thomas Folkmann Hansen Thomas Werge Jaakko Kaprio Arpo J Aromaa Olli Raitakari M Arfan Ikram Tim Spector Marjo-Riitta Järvelin Andres Metspalu Christian Kubisch David P Strachan Michel D Ferrari Andrea C Belin Martin Dichgans Maija Wessman Arn M J M van den Maagdenberg John-Anker Zwart Dorret I Boomsma George Davey Smith Kari Stefansson Nicholas Eriksson Mark J Daly Benjamin M Neale Jes Olesen Daniel I Chasman Dale R Nyholt Aarno Palotie

Nat Genet 2016 08 20;48(8):856-66. Epub 2016 Jun 20.

Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://biorxiv.org/content/biorxiv/early/2015/11/02/030288.f
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http://dx.doi.org/10.1038/ng.3598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331903PMC
August 2016

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Neurol Genet 2016 Feb 21;2(1):e46. Epub 2016 Jan 21.

Institute for Molecular Medicine Finland (M.M., A.P.), Neuroscience Center (M.M., A.L., A.-E.L.), and Research Programs Unit, Molecular Neurology (M.M., A.-K.A., A.L., A.-E.L.), University of Helsinki, Finland; Folkhälsan Institute of Genetics (M.M., A.-K.A., A.L., A.-E.L.), Helsinki, Finland; Division of Membrane Physiology (Y.F., M.F.), Department of Cell Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Japan; Department of Physiological Sciences (Y.F., M.F.), School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Japan; Medical and Clinical Genetics (A.-K.A.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Analytic and Translational Genetics Unit (A.P.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Program in Medical and Population Genetics (A.P.) and Stanley Center for Psychiatric Research (A.P.), Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA; Program in Genetics and Genomics (A.P.), Biological and Biomedical Sciences, Harvard Medical School, Boston, MA; Wellcome Trust Sanger Institute (A.P.), Wellcome Trust Genome Campus, Hinxton, United Kingdom; Psychiatric & Neurodevelopmental Genetics Unit (A.P.), Department of Psychiatry, and Department of Neurology (A.P.), Massachusetts General Hospital, Boston, MA; Department of Pediatric Neurology (H.P., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Radiology (L.V.), HUS Medical Imaging Center, Helsinki, Finland; and Family Federation of Finland (M.S.), Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817901PMC
February 2016

Allele-specific regulation of DISC1 expression by miR-135b-5p.

Eur J Hum Genet 2014 Jun 30;22(6):840-3. Epub 2013 Oct 30.

1] Institute for Molecular Medicine, Finland (FIMM), University of Helsinki, Helsinki, Finland [2] Department of Biosciences, Viikki Biocenter, University of Helsinki, Helsinki, Finland [3] Research Programs Unit, Biomedicum-Helsinki, and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland [4] Department of Mental Health and Substance Abuse Services, National Institute for Health and Welfare, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2013.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023220PMC
June 2014

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

Epilepsia 2013 Sep 28;54(9):1577-85. Epub 2013 Jun 28.

Department of Pediatric Neurology, Helsinki University Central Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1111/epi.12256DOI Listing
September 2013

Segmental isotopic labeling of multi-domain and fusion proteins by protein trans-splicing in vivo and in vitro.

Nat Protoc 2010 Mar 4;5(3):574-87. Epub 2010 Mar 4.

Research Program in Structural Biology and Biophysics, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/nprot.2009.240DOI Listing
March 2010

Segmental isotopic labelling of a multidomain protein by protein ligation by protein trans-splicing.

Chembiochem 2008 Dec;9(18):2958-61

Research Program in Structural Biology and Biophysics, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/cbic.200800604DOI Listing
December 2008