Magnhild Rasmussen

Magnhild Rasmussen

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Magnhild Rasmussen

Magnhild Rasmussen

Publications by authors named "Magnhild Rasmussen"

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33Publications

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Fever-related ataxia: a case report of CAPOS syndrome.

Cerebellum Ataxias 2019 8;6. Epub 2019 Feb 8.

8Department of Neurology, Drammen Hospital, Vestre Viken Health Trust, Drammen, Norway.

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https://cerebellumandataxias.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s40673-019-0096-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368810PMC
February 2019

Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway.

J Neuromuscul Dis 2019 ;6(3):349-359

Oslo University Hospital, Unit for Congenital and Inherited Neuromuscular Disorders, Oslo, Norway.

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http://dx.doi.org/10.3233/JND-190402DOI Listing
January 2019

Økt behov for fysioterapeuter med nevromuskulær kompetanse.

Tidsskr Nor Laegeforen 2018 09 17;138(14). Epub 2018 Sep 17.

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http://dx.doi.org/10.4045/tidsskr.18.0580DOI Listing
September 2018

The presence of anaemia negatively influences survival in patients with POLG disease.

J Inherit Metab Dis 2017 11 1;40(6):861-866. Epub 2017 Sep 1.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1007/s10545-017-0084-9DOI Listing
November 2017

[Juvenile-onset muscular diseases].

Tidsskr Nor Laegeforen 2017 Jan 24;137(2):108-111. Epub 2017 Jan 24.

Barneavdeling for nevrofag og Enhet for medfødte og arvelige nevromuskulære tilstander Oslo universitetssykehus.

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http://dx.doi.org/10.4045/tidsskr.16.0623DOI Listing
January 2017

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Neuromuscul Disord 2016 09 22;26(9):570-5. Epub 2016 Jun 22.

Faculty of Medicine, University of Oslo, Oslo, Norway; Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.06.457DOI Listing
September 2016

[Together for patients with hereditary neuromuscular conditions].

Tidsskr Nor Laegeforen 2016 08 23;136(14-15):1198-9. Epub 2016 Aug 23.

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http://dx.doi.org/10.4045/tidsskr.16.0502DOI Listing
August 2016

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Eur J Med Genet 2016 Jun 13;59(6-7):342-6. Epub 2016 May 13.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.05.005DOI Listing
June 2016

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia.

J Neuromuscul Dis 2015 Jun;2(2):181-184

Center for Hereditary Muscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.3233/JND-150069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240542PMC
June 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Duchenne muscular dystrophy.

Tidsskr Nor Laegeforen 2014 Aug 5;134(14):1361-4. Epub 2014 Aug 5.

Barneavdeling for nevrofag og Kompetansesenter for medfødte muskelsykdommer Oslo universitetssykehus.

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https://tidsskriftet.no/2014/08/oversiktsartikkel/duchennes-
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http://dx.doi.org/10.4045/tidsskr.13.0836DOI Listing
August 2014

Physical activity and motor function in children and adolescents with neuromuscular disorders.

Pediatr Phys Ther 2013 ;25(4):415-20

Department of Child Neurology (Ms Holtebekk and Drs Rasmussen and Jahnsen), Oslo University Hospital, Oslo, Norway; Department of Public Health (Dr Berntsen), Sport and Nutrition, Faculty of Health and Sport Sciences, University of Agder, Kristiansand, Norway.

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http://dx.doi.org/10.1097/PEP.0b013e3182a635f0DOI Listing
May 2014

Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

Acta Paediatr 2014 May 10;103(5):553-8. Epub 2014 Feb 10.

Department of Clinical Neurosciences for Children, Section for Child Neurology, Oslo University Hospital, Oslo, Norway; Department of Neurology, Center for Congenital Muscular Disorders, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1111/apa.12561DOI Listing
May 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.

Neuromuscul Disord 2011 Jan 18;21(1):41-6. Epub 2010 Oct 18.

Department of Habilitation, University Hospital of North Norway, Tromsø, Norway.

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http://dx.doi.org/10.1016/j.nmd.2010.08.008DOI Listing
January 2011

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

An extensive long term follow-up of a cohort of patients with hypoplasia of the left heart.

Cardiol Young 2007 Feb 22;17(1):51-5. Epub 2006 Dec 22.

Department of Pediatric Cardiology, Section for Neurology, Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1017/S1047951106001284DOI Listing
February 2007

[Infantile spasms].

Tidsskr Nor Laegeforen 2005 Aug;125(15):2002-4

Barneklinikken, Rikshospitalet, 0027 Oslo.

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August 2005

[Infantile spasms].

Tidsskr Nor Laegeforen 2005 Aug;125(16):2248

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August 2005

[Pyridoxine-dependent seizures].

Tidsskr Nor Laegeforen 2004 Jan;124(2):162-4

Habiliteringsavdeling for barn og unge, Sørlandet sykehus Kristiansand, Postboks 416, 4604 Kristiansand.

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January 2004