Anders Oldfors

Anders Oldfors

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Anders Oldfors

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Glycogenin is dispensable for glycogen synthesis in human muscle and glycogenin deficiency causes polyglucosan storage.

Authors:
Kittichate Visuttijai Hedberg-Oldfors Carola Christer Thomsen Emma Glamuzina Cornelia Kornblum Giorgio Tasca Aurelio Hernandez-Lain Joakim Sandstedt Göran Dellgren Peter Roach Anders Oldfors

J Clin Endocrinol Metab 2019 Oct 19. Epub 2019 Oct 19.

Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1210/clinem/dgz075DOI Listing
October 2019

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Authors:
Elizabeth Jennions Carola Hedberg-Oldfors Anna-Karin Berglund Gittan Kollberg Carl-Johan Törnhage Erik A Eklund Anders Oldfors Patrick Verloo Arnaud V Vanlander Linda De Meirleir Sara Seneca Fredrik H Sterky Niklas Darin

J Inherit Metab Dis 2019 Sep 24;42(5):898-908. Epub 2019 Jul 24.

Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1002/jimd.12149DOI Listing
September 2019

The Atrioventricular Junction: A Potential Niche Region for Progenitor Cells in the Adult Human Heart.

Authors:
Kristina Vukusic Mikael Sandstedt Marianne Jonsson Märta Jansson Anders Oldfors Anders Jeppsson Göran Dellgren Anders Lindahl Joakim Sandstedt

Stem Cells Dev 2019 Aug 27;28(16):1078-1088. Epub 2019 Jun 27.

1Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg Sahlgrenska Academy, Gothenburg, Sweden.

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http://dx.doi.org/10.1089/scd.2019.0075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6686725PMC
August 2019

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.

Authors:
Kalliopi Sofou Carola Hedberg-Oldfors Gittan Kollberg Christer Thomsen Åsa Wiksell Anders Oldfors Már Tulinius

Mitochondrion 2019 Jul 4;47:76-81. Epub 2019 May 4.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S15677249183025
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http://dx.doi.org/10.1016/j.mito.2019.04.012DOI Listing
July 2019

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Authors:
Carola Hedberg-Oldfors Alexandra Abramsson Daniel P S Osborn Olof Danielsson Afsoon Fazlinezhad Yalda Nilipour Laila Hübbert Inger Nennesmo Kittichate Visuttijai Jaipreet Bharj Evmorfia Petropoulou Azza Shoreim Barbara Vona Najmeh Ahangari Marcela Dávila López Mohammad Doosti Rakesh Kumar Banote Reza Maroofian Malin Edling Mehdi Taherpour Henrik Zetterberg Ehsan Ghayoor Karimiani Anders Oldfors Yalda Jamshidi

Hum Mol Genet 2019 Jun;28(11):1919-1929

Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK.

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http://dx.doi.org/10.1093/hmg/ddz032DOI Listing
June 2019

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018.

Authors:
Bjarne Udd Werner Stenzel Anders Oldfors Montse Olivé Norma Romero Martin Lammens Benno Kusters Caroline Sewry Hans-Hilmar Goebel Teresinha Evangelista

Neuromuscul Disord 2019 Jun 15;29(6):483-485. Epub 2019 Mar 15.

Institut de Myologie, CHU Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2019.03.002DOI Listing
June 2019

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a novel mosaic mutation in the gene.

Authors:
Monika Meinert Elisabet Englund Carola Hedberg-Oldfors Anders Oldfors Björn Kornhall Catarina Lundin Elisabeth Wittström

Ophthalmic Genet 2019 Jun 2;40(3):227-236. Epub 2019 Jul 2.

a Department of Clinical Sciences Lund, Ophthalmology , Lund University, Skane University Hospital , Lund , Sweden.

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http://dx.doi.org/10.1080/13816810.2019.1627464DOI Listing
June 2019

Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner.

Authors:
Mikael Sandstedt Victoria Rotter Sopasakis Annika Lundqvist Kristina Vukusic Anders Oldfors Göran Dellgren Joakim Sandstedt Lillemor Mattsson Hultén

PLoS One 2018 23;13(8):e0202693. Epub 2018 Aug 23.

Department of Clinical Chemistry, Sahlgrenska University Hospital and Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0202693PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107211PMC
February 2019

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.

Authors:
Sara Roos Kalliopi Sofou Carola Hedberg-Oldfors Gittan Kollberg Ulrika Lindgren Christer Thomsen Mar Tulinius Anders Oldfors

Eur J Hum Genet 2019 02 12;27(2):331-335. Epub 2018 Oct 12.

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

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http://www.nature.com/articles/s41431-018-0286-0
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http://dx.doi.org/10.1038/s41431-018-0286-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336879PMC
February 2019

Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis.

Authors:
Kathe Dahlbom Mats Geijer Anders Oldfors Christopher Lindberg

Acta Neurol Scand 2019 Feb 8;139(2):177-182. Epub 2018 Nov 8.

Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1111/ane.13040DOI Listing
February 2019

Cardiac arrest in Wilson's disease after curative liver transplantation: a life-threatening complication of myocardial copper excess?

Authors:
Emanuele Bobbio Niklas Forsgard Anders Oldfors Piotr Szamlewski Entela Bollano Bert Andersson Marie Lingbrant Niklas Bergh Kristjan Karason Christian L Polte

ESC Heart Fail 2019 02 8;6(1):228-231. Epub 2019 Jan 8.

Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1002/ehf2.12395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351892PMC
February 2019

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Authors:
Eva Michael Carola Hedberg-Oldfors Philip Wilmar Kittichate Visuttijai Anders Oldfors Niklas Darin

Neuromuscul Disord 2019 Feb 20;29(2):108-113. Epub 2018 Dec 20.

Department of Pediatrics, Sahlgrenska Academy, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183058
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http://dx.doi.org/10.1016/j.nmd.2018.12.009DOI Listing
February 2019

Parvovirus B19 in Endomyocardial Biopsy of Patients With Idiopathic Dilated Cardiomyopathy: Foe or Bystander?

Authors:
Clara Hjalmarsson Jan-Åke Liljeqvist Magnus Lindh K Karason Entela Bollano Anders Oldfors Bert Andersson

J Card Fail 2019 01 10;25(1):60-63. Epub 2018 Aug 10.

Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden; Wallenberg Laboratory, Sahlgrenska Academy, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.cardfail.2018.07.466DOI Listing
January 2019

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Authors:
Rainiero Ávila-Polo Edoardo Malfatti Xavière Lornage Chrystel Cheraud Isabelle Nelson Juliette Nectoux Johann Böhm Raphaël Schneider Carola Hedberg-Oldfors Bruno Eymard Soledad Monges Fabiana Lubieniecki Guy Brochier Mai Thao Bui Angeline Madelaine Clémence Labasse Maud Beuvin Emmanuelle Lacène Anne Boland Jean-François Deleuze Julie Thompson Isabelle Richard Ana Lía Taratuto Bjarne Udd France Leturcq Gisèle Bonne Anders Oldfors Jocelyn Laporte Norma Beatriz Romero

J Neuropathol Exp Neurol 2018 12;77(12):1101-1114

Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.

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https://academic.oup.com/jnen/advance-article/doi/10.1093/jn
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http://dx.doi.org/10.1093/jnen/nly095DOI Listing
December 2018

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Authors:
Valérie Biancalana Norma B Romero Inger Johanne Thuestad Jaakko Ignatius Janne Kataja Maria Gardberg Delphine Héron Edoardo Malfatti Anders Oldfors Jocelyn Laporte

Acta Neuropathol Commun 2018 09 12;6(1):93. Epub 2018 Sep 12.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France.

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http://dx.doi.org/10.1186/s40478-018-0593-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134552PMC
September 2018

A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Authors:
Juliana Gurgel-Giannetti David S Lynch Anderson Rodrigues Brandão de Paiva Leandro Tavares Lucato Guilherme Yamamoto Christer Thomsen Somsuvro Basu Fernando Freua Alexandre Varella Giannetti Bruno Della Ripa de Assis Mara Dell Ospedale Ribeiro Isabella Barcelos Katiane Sayão Souza Fernanda Monti Uirá Souto Melo Simone Amorim Leonardo G L Silva Lúcia Inês Macedo-Souza Angela M Vianna-Morgante Michio Hirano Marjo S Van der Knaap Roland Lill Mariz Vainzof Anders Oldfors Henry Houlden Fernando Kok

Brain 2018 08;141(8):2289-2298

Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1093/brain/awy172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061701PMC
August 2018

Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.

Authors:
Carola Hedberg-Oldfors Christopher Lindberg Anders Oldfors

Neurol Genet 2018 Aug 23;4(4):e254. Epub 2018 Jul 23.

Department of Pathology and Genetics (C.H.-O., A.O.), Sahlgrenska Academy, University of Gothenburg, and Department of Neurology (C.L.), Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066360PMC
August 2018

Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.

Authors:
Emil Westerlund Sigurður E Marelsson Johannes K Ehinger Fredrik Sjövall Saori Morota Eleonor Åsander Frostner Anders Oldfors Niklas Darin Johan Lundgren Magnus J Hansson Vineta Fellman Eskil Elmér

Pediatr Res 2018 02 15;83(2):455-465. Epub 2017 Nov 15.

Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden.

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http://dx.doi.org/10.1038/pr.2017.250DOI Listing
February 2018

Tubular aggregates in congenital myasthenic syndrome.

Authors:
Amalia Feresiadou Olivera Casar-Borota Anca Dragomir Carola Hedberg Oldfors Erik Stålberg Anders Oldfors

Neuromuscul Disord 2018 02 24;28(2):174-175. Epub 2017 Nov 24.

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

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http://dx.doi.org/10.1016/j.nmd.2017.11.009DOI Listing
February 2018

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.

Authors:
Carola Hedberg-Oldfors Kittichate Visuttijai Alexandra Topa Mar Tulinius Anders Oldfors

Neuromuscul Disord 2017 Sep 10;27(9):843-847. Epub 2017 May 10.

Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2017.05.004DOI Listing
September 2017

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.

Authors:
Carola Hedberg-Oldfors Niklas Darin Anders Oldfors

Neuromuscul Disord 2017 Aug 8;27(8):771-776. Epub 2017 May 8.

Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2017.05.005DOI Listing
August 2017

Is Glycogenin Essential for Glycogen Synthesis?

Authors:
Anders Oldfors

Cell Metab 2017 Jul;26(1):12-14

Department of Pathology and Genetics, University of Gothenburg, Sahlgrenska Hospital, 413 45 Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2017.06.017DOI Listing
July 2017

Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

Authors:
Carola Hedberg-Oldfors Emma Glamuzina Peter Ruygrok Lisa J Anderson Perry Elliott Oliver Watkinson Chris Occleshaw Malcolm Abernathy Clinton Turner Nicola Kingston Elaine Murphy Anders Oldfors

J Inherit Metab Dis 2017 01 7;40(1):139-149. Epub 2016 Oct 7.

Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s10545-016-9978-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203857PMC
January 2017

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.

Authors:
Carola Hedberg-Oldfors Niklas Darin Mia Olsson Engman Zacharias Orfanos Christer Thomsen Peter F M van der Ven Anders Oldfors

Eur J Hum Genet 2016 12 3;24(12):1771-1777. Epub 2016 Aug 3.

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

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http://dx.doi.org/10.1038/ejhg.2016.98DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117942PMC
December 2016

Histopathological changes in skeletal muscle associated with chronic ischaemia.

Authors:
Sara Roos Ing-Marie Fyhr Katharina S Sunnerhagen Ali-Reza Moslemi Anders Oldfors Michael Ullman

APMIS 2016 Nov 19;124(11):935-941. Epub 2016 Aug 19.

Department of Orthopaedics, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1111/apm.12586DOI Listing
November 2016

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

Authors:
Giorgio Tasca Fabiana Fattori Mauro Monforte Carola Hedberg-Oldfors Mario Sabatelli Bjarne Udd Renata Boldrini Enrico Bertini Enzo Ricci Anders Oldfors

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

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Authors:
Edoardo Malfatti Christine Barnerias Carola Hedberg-Oldfors Cyril Gitiaux Audrey Benezit Anders Oldfors Robert-Yves Carlier Susana Quijano-Roy Norma B Romero

Neuromuscul Disord 2016 10 25;26(10):681-687. Epub 2016 Jul 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.07.005DOI Listing
October 2016

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

Authors:
Sabine Grønborg Niklas Darin Maria J Miranda Bodil Damgaard Jorge Asin Cayuela Anders Oldfors Gittan Kollberg Thomas V O Hansen Kirstine Ravn Flemming Wibrand Elsebet Østergaard

JIMD Rep 2017 8;33:69-77. Epub 2016 Sep 8.

Department of Clinical Genetics 4062, Juliane Marie Center, University Hospital Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/8904_2016_582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413450PMC
September 2016

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Authors:
Tracey Willis Carola Hedberg-Oldfors Zoya Alhaswani Richa Kulshrestha Caroline Sewry Anders Oldfors

J Neurol 2016 Jul 13;263(7):1427-33. Epub 2016 May 13.

Department of Pathology and Genetics, Institute of Biomedicine, The Sahlgrenska Academy, University of Gothenburg, 413 45, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00415-016-8154-8DOI Listing
July 2016

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Authors:
Alexandra Topa Mar Tulinius Anders Oldfors Carola Hedberg-Oldfors

Am J Med Genet A 2016 May 11;170A(5):1155-64. Epub 2016 Feb 11.

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

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http://dx.doi.org/10.1002/ajmg.a.37593DOI Listing
May 2016

Polyglucosan storage myopathies.

Authors:
Carola Hedberg-Oldfors Anders Oldfors

Mol Aspects Med 2015 Dec 13;46:85-100. Epub 2015 Aug 13.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.mam.2015.08.006DOI Listing
December 2015

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.

Authors:
Montse Olivé Saba Abdul-Hussein Anders Oldfors José González-Costello Peter F M van der Ven Dieter O Fürst Laura González Dolores Moreno Benjamín Torrejón-Escribano Josefina Alió Adolf Pou Isidro Ferrer Homa Tajsharghi

Hum Mol Genet 2015 Nov 7;24(21):6264. Epub 2015 Sep 7.

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http://dx.doi.org/10.1093/hmg/ddv311DOI Listing
November 2015

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.

Authors:
Sushan Luo Wenhua Zhu Dongyue Yue Jie Lin Yin Wang Zhen Zhu Wenjuan Qiu Jiahong Lu Carola Hedberg-Oldfors Anders Oldfors Chongbo Zhao

Neuromuscul Disord 2015 Oct 15;25(10):780-5. Epub 2015 Jul 15.

Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai, China. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.07.007DOI Listing
October 2015

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.

Authors:
Montse Olivé Saba Abdul-Hussein Anders Oldfors José González-Costello Peter F M van der Ven Dieter O Fürst Laura González Dolores Moreno Benjamín Torrejón-Escribano Josefina Alió Adolf Pou Isidro Ferrer Homa Tajsharghi

Hum Mol Genet 2015 Jul 23;24(13):3638-50. Epub 2015 Mar 23.

Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg SE-413 45, Sweden, Department of Clinical and Medical Genetics, University of Gothenburg, Gothenburg SE-405 30, Sweden and Systems Biology Research Centre, School of Biomedicine, University of Skövde, Skövde SE-541 28, Sweden

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http://dx.doi.org/10.1093/hmg/ddv108DOI Listing
July 2015

Early onset cardiomyopathy in females with Danon disease.

Authors:
Carola Hedberg Oldfors Gyöngyvér Máthé Kate Thomson Mar Tulinius Kristjan Karason Ingegerd Östman-Smith Anders Oldfors

Neuromuscul Disord 2015 Jun 16;25(6):493-501. Epub 2015 Mar 16.

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

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http://dx.doi.org/10.1016/j.nmd.2015.03.005DOI Listing
June 2015

Glycogen pathways in disease: new developments in a classical field of medical genetics.

Authors:
Manfred W Kilimann Anders Oldfors

J Inherit Metab Dis 2015 May 7;38(3):483-7. Epub 2014 Nov 7.

Department of Otolaryngology, Göttingen University Medical School, Goettingen, Germany,

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http://dx.doi.org/10.1007/s10545-014-9785-5DOI Listing
May 2015

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.

Authors:
Olivera Casar-Borota Johan Jacobsson Rolf Libelius Carola Hedberg Oldfors Edoardo Malfatti Norma Beatriz Romero Anders Oldfors

Neuromuscul Disord 2015 Apr 13;25(4):345-8. Epub 2015 Jan 13.

Department of Pathology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2015.01.001DOI Listing
April 2015

Mitochondrial pathology in inclusion body myositis.

Authors:
Ulrika Lindgren Sara Roos Carola Hedberg Oldfors Ali-Reza Moslemi Christopher Lindberg Anders Oldfors

Neuromuscul Disord 2015 Apr 6;25(4):281-8. Epub 2015 Jan 6.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.12.010DOI Listing
April 2015

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Authors:
Kristoffer Björkman Kalliopi Sofou Niklas Darin Elisabeth Holme Gittan Kollberg Jorge Asin-Cayuela Karin M Holmberg Dahle Anders Oldfors Ali-Reza Moslemi Már Tulinius

Mitochondrion 2015 Mar 20;21:33-40. Epub 2015 Jan 20.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.01.003DOI Listing
March 2015

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.

Authors:
Kalliopi Sofou Gittan Kollberg Maria Holmström Marcela Dávila Niklas Darin Claes M Gustafsson Elisabeth Holme Anders Oldfors Már Tulinius Jorge Asin-Cayuela

Mol Genet Genomic Med 2015 Jan 23;3(1):59-68. Epub 2014 Oct 23.

Department of Clinical Chemistry, University of Gothenburg, Sahlgrenska University Hospital Gothenburg, Sweden.

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http://dx.doi.org/10.1002/mgg3.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299715PMC
January 2015

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Authors:
Edoardo Malfatti Johanna Nilsson Carola Hedberg-Oldfors Aurelio Hernandez-Lain Fabrice Michel Cristina Dominguez-Gonzalez Gabriel Viennet H Orhan Akman Cornelia Kornblum Peter Van den Bergh Norma B Romero Andrew G Engel Salvatore DiMauro Anders Oldfors

Ann Neurol 2014 Dec 31;76(6):891-8. Epub 2014 Oct 31.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden; Myology Institute, Neuromuscular Morphology Unit, Pierre and Marie Curie University, Pitié-Salpêtrière University Hospital Group, Sorbonne Universities, Paris, France.

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http://dx.doi.org/10.1002/ana.24284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348070PMC
December 2014

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Authors:
Homa Tajsharghi Simon Hammans Christopher Lindberg Alexander Lossos Nigel F Clarke Ingrid Mazanti Leigh B Waddell Yakov Fellig Nicola Foulds Haider Katifi Richard Webster Olayinka Raheem Bjarne Udd Zohar Argov Anders Oldfors

Eur J Hum Genet 2014 Jun 6;22(6):801-8. Epub 2013 Nov 6.

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

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http://dx.doi.org/10.1038/ejhg.2013.250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023224PMC
June 2014

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

Authors:
Carola Hedberg Anders Oldfors Niklas Darin

Eur J Hum Genet 2014 May 2;22(5):707-10. Epub 2013 Oct 2.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://www.nature.com/articles/ejhg2013223
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http://dx.doi.org/10.1038/ejhg.2013.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992579PMC
May 2014

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.

Authors:
Carola Hedberg Marcello Niceta Fabiana Fattori Björn Lindvall Andrea Ciolfi Adele D'Amico Giorgio Tasca Stefania Petrini Mar Tulinius Marco Tartaglia Anders Oldfors Enrico Bertini

J Neurol 2014 May 26;261(5):870-6. Epub 2014 Feb 26.

Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.

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May 2014

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

Authors:
Carola Hedberg Alejandro Gomez Toledo Claes M Gustafsson Göran Larson Anders Oldfors Bertil Macao

Neuromuscul Disord 2014 May 15;24(5):373-9. Epub 2014 Feb 15.

Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2014.02.003DOI Listing
May 2014

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

Authors:
Carola Hedberg Atle Melberg Kathe Dahlbom Anders Oldfors

Brain 2014 Apr 14;137(Pt 4):e270. Epub 2013 Nov 14.

1 Department of Pathology, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1093/brain/awt305DOI Listing
April 2014

Hereditary myopathy with early respiratory failure: occurrence in various populations.

Authors:
Johanna Palmio Anni Evilä Françoise Chapon Giorgio Tasca Fengqing Xiang Björn Brådvik Bruno Eymard Andoni Echaniz-Laguna Jocelyn Laporte Mikko Kärppä Ibrahim Mahjneh Rosaline Quinlivan Pascal Laforêt Maxwell Damian Andres Berardo Ana Lia Taratuto Jose Antonio Bueri Johanna Tommiska Taneli Raivio Matthias Tuerk Philipp Gölitz Frederic Chevessier Caroline Sewry Fiona Norwood Carola Hedberg Rolf Schröder Lars Edström Anders Oldfors Peter Hackman Bjarne Udd

J Neurol Neurosurg Psychiatry 2014 Mar 19;85(3):345-53. Epub 2013 Apr 19.

Department of Neurology, Neuromuscular Research Unit, Tampere University and University Hospital, , Tampere, Finland.

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http://dx.doi.org/10.1136/jnnp-2013-304965DOI Listing
March 2014

Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo) cardiomyopathy.

Authors:
Bjorn Redfors Yangzhen Shao Johannes Wikström Alexander R Lyon Anders Oldfors Li-Ming Gan Elmir Omerovic

Eur Heart J Cardiovasc Imaging 2014 Feb 5;15(2):152-7. Epub 2013 Jul 5.

Department of Molecular and Clinical Medicine, Sahlgrenska Academy at University of Gothenburg, Bruna stråket 16, SE 413 45 Gothenburg, Sweden.

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http://ehjcimaging.oxfordjournals.org/content/ejechocard/15/
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February 2014

LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.

Authors:
Johanna Nilsson Adnan Halim Erik Larsson Ali-Reza Moslemi Anders Oldfors Göran Larson Jonas Nilsson

Biochim Biophys Acta 2014 Feb 14;1844(2):398-405. Epub 2013 Nov 14.

Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.bbapap.2013.11.002DOI Listing
February 2014

Normal apical myocardial perfusion in the rat model with Takotsubo syndrome: is subsequent microvascular dysfunction and hypoperfusion an epiphenomenon? Reply.

Authors:
Björn Redfors Yangzhen Shao Anders Oldfors Elmir Omerovic

Eur Heart J Cardiovasc Imaging 2014 Jan 8;15(1):110-1. Epub 2013 Oct 8.

Department of Molecular and Clinical Medicine/C, Sahlgrenska Academy, University of Gothenburg, Bruna stråket 16, SE 413 45 Gothenburg, Sweden.

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http://dx.doi.org/10.1093/ehjci/jet174DOI Listing
January 2014

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Authors:
Johanna Nilsson Benedikt Schoser Pascal Laforet Ognian Kalev Christopher Lindberg Norma B Romero Marcela Dávila López Hasan O Akman Karim Wahbi Stephan Iglseder Christian Eggers Andrew G Engel Salvatore Dimauro Anders Oldfors

Ann Neurol 2013 Dec;74(6):914-9

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

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http://dx.doi.org/10.1002/ana.23963DOI Listing
December 2013

New insights in the field of muscle glycogenoses.

Authors:
Anders Oldfors Salvatore DiMauro

Curr Opin Neurol 2013 Oct;26(5):544-53

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

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http://dx.doi.org/10.1097/WCO.0b013e328364dbdcDOI Listing
October 2013

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

Authors:
Alexander Lossos Anders Oldfors Yakov Fellig Vardiella Meiner Zohar Argov Homa Tajsharghi

Brain 2013 Jul 6;136(Pt 7):e238. Epub 2013 Feb 6.

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http://dx.doi.org/10.1093/brain/aws365DOI Listing
July 2013

Reply to Brodehl et al.

Authors:
Carola Hedberg Atle Melberg Angelika Kuhl Dieter Jenne Anders Oldfors

Eur J Hum Genet 2013 Jun 3;21(6):590. Epub 2012 Oct 3.

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http://dx.doi.org/10.1038/ejhg.2012.214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658190PMC
June 2013

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].

Authors:
Sara Roos Bertil Macao Javier Miralles Fusté Christopher Lindberg Elisabeth Jemt Elisabeth Holme Ali-Reza Moslemi Anders Oldfors Maria Falkenberg

Hum Mol Genet 2013 Jun 27;22(12):2411-22. Epub 2013 Feb 27.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gula Stråket 8, Gothenburg SE-413 45, Sweden.

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http://dx.doi.org/10.1093/hmg/ddt094DOI Listing
June 2013

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

Authors:
Sara Roos Niklas Darin Gittan Kollberg Marita Andersson Grönlund Mar Tulinius Elisabeth Holme Ali-Reza Moslemi Anders Oldfors

Eur J Hum Genet 2013 May 11;21(5):571-3. Epub 2012 Jul 11.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1038/ejhg.2012.153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641373PMC
May 2013

Myosinopathies: pathology and mechanisms.

Authors:
Homa Tajsharghi Anders Oldfors

Acta Neuropathol 2013 Jan 5;125(1):3-18. Epub 2012 Aug 5.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00401-012-1024-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535372PMC
January 2013

Mitochondrial encephalomyopathies.

Authors:
Anders Oldfors Már Tulinius

Handb Clin Neurol 2007 ;86:125-65

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http://dx.doi.org/10.1016/S0072-9752(07)86006-4DOI Listing
October 2012

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Authors:
Carola Hedberg Atle Melberg Angelika Kuhl Dieter Jenne Anders Oldfors

Eur J Hum Genet 2012 Sep 7;20(9):984-5. Epub 2012 Mar 7.

Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1038/ejhg.2012.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421124PMC
September 2012

Distal arthrogryposis: clinical and genetic findings.

Authors:
Eva Kimber Homa Tajsharghi Anna-Karin Kroksmark Anders Oldfors Már Tulinius

Acta Paediatr 2012 Aug 24;101(8):877-87. Epub 2012 May 24.

Department of Women's and Children's Health, Uppsala University Children's Hospital, Uppsala, Sweden.

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http://dx.doi.org/10.1111/j.1651-2227.2012.02708.xDOI Listing
August 2012

Phenotypic and genotypic variability in Alpers syndrome.

Authors:
Kalliopi Sofou Ali-Reza Moslemi Gittan Kollberg Ingibjörg Bjarnadóttir Anders Oldfors Inger Nennesmo Elisabeth Holme Már Tulinius Niklas Darin

Eur J Paediatr Neurol 2012 Jul 10;16(4):379-89. Epub 2012 Jan 10.

Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, S-416 85 Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.ejpn.2011.12.006DOI Listing
July 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Authors:
Johann Böhm Valérie Biancalana Elizabeth T Dechene Marc Bitoun Christopher R Pierson Elise Schaefer Hatice Karasoy Melissa A Dempsey Fabrice Klein Nicolas Dondaine Christine Kretz Nicolas Haumesser Claire Poirson Anne Toussaint Rebecca S Greenleaf Melissa A Barger Lane J Mahoney Peter B Kang Edmar Zanoteli John Vissing Nanna Witting Andoni Echaniz-Laguna Carina Wallgren-Pettersson James Dowling Luciano Merlini Anders Oldfors Lilian Bomme Ousager Judith Melki Amanda Krause Christina Jern Acary S B Oliveira Florence Petit Aurélia Jacquette Annabelle Chaussenot David Mowat Bruno Leheup Michele Cristofano Juan José Poza Aldea Fabrice Michel Alain Furby Jose E Barcena Llona Rudy Van Coster Enrico Bertini Jon Andoni Urtizberea Valérie Drouin-Garraud Christophe Béroud Bernard Prudhon Melanie Bedford Katherine Mathews Lori A H Erby Stephen A Smith Jennifer Roggenbuck Carol A Crowe Allison Brennan Spitale Sheila C Johal Anthony A Amato Laurie A Demmer Jessica Jonas Basil T Darras Thomas D Bird Mercy Laurino Selman I Welt Cynthia Trotter Pascale Guicheney Soma Das Jean-Louis Mandel Alan H Beggs Jocelyn Laporte

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Authors:
Monica Ohlsson Carola Hedberg Björn Brådvik Christopher Lindberg Homa Tajsharghi Olof Danielsson Atle Melberg Bjarne Udd Tommy Martinsson Anders Oldfors

Brain 2012 Jun 9;135(Pt 6):1682-94. Epub 2012 May 9.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE-413 45 Gothenburg, Sweden.

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http://dx.doi.org/10.1093/brain/aws103DOI Listing
June 2012

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Authors:
Velina Guergueltcheva Juliane S Müller Marina Dusl Jan Senderek Anders Oldfors Christopher Lindbergh Susan Maxwell Jaume Colomer Cecilia Jimenez Mallebrera Andres Nascimento Juan J Vilchez Nuria Muelas Janbernd Kirschner Shahriar Nafissi Ariana Kariminejad Yalda Nilipour Bita Bozorgmehr Hossein Najmabadi Carmelo Rodolico Jörn P Sieb Beate Schlotter Benedikt Schoser Ralf Herrmann Thomas Voit Ortrud K Steinlein Abdolhamid Najafi Andoni Urtizberea Doriette M Soler Francesco Muntoni Michael G Hanna Amina Chaouch Volker Straub Kate Bushby Jacqueline Palace David Beeson Angela Abicht Hanns Lochmüller

J Neurol 2012 May 6;259(5):838-50. Epub 2011 Oct 6.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00415-011-6262-zDOI Listing
May 2012

Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.

Authors:
Johanna Nilsson Adnan Halim Ali-Reza Moslemi Anders Pedersen Jonas Nilsson Göran Larson Anders Oldfors

Biochim Biophys Acta 2012 Apr 9;1822(4):493-9. Epub 2011 Dec 9.

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

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http://dx.doi.org/10.1016/j.bbadis.2011.11.017DOI Listing
April 2012

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Authors:
Carola Hedberg Christopher Lindberg Gyöngyvér Máthé Ali-Reza Moslemi Anders Oldfors

Neuromuscul Disord 2012 Mar 18;22(3):244-51. Epub 2011 Nov 18.

Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2011.10.010DOI Listing
March 2012

Neonatal muscular manifestations in mitochondrial disorders.

Authors:
Már Tulinius Anders Oldfors

Semin Fetal Neonatal Med 2011 Aug 18;16(4):229-35. Epub 2011 May 18.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.siny.2011.04.001DOI Listing
August 2011

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Authors:
Anne Toussaint Belinda Simone Cowling Karim Hnia Michel Mohr Anders Oldfors Yannick Schwab Uluc Yis Thierry Maisonobe Tanya Stojkovic Carina Wallgren-Pettersson Vincent Laugel Andoni Echaniz-Laguna Jean-Louis Mandel Ichizo Nishino Jocelyn Laporte

Acta Neuropathol 2011 Feb 7;121(2):253-66. Epub 2010 Oct 7.

Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-010-0754-2DOI Listing
February 2011

Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.

Authors:
Gittan Kollberg Atle Melberg Elisabeth Holme Anders Oldfors

Neuromuscul Disord 2011 Feb 31;21(2):115-20. Epub 2010 Dec 31.

Department of Clinical Chemistry, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE-41345 Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2010.11.010DOI Listing
February 2011

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation.

Authors:
Norma Beatriz Romero Jorge A Bevilacqua Anders Oldfors Michel Fardeau

Neuromuscul Disord 2011 Feb;21(2):148; author reply 148-9

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http://dx.doi.org/10.1016/j.nmd.2010.11.009DOI Listing
February 2011

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Authors:
Jan Senderek Juliane S Müller Marina Dusl Tim M Strom Velina Guergueltcheva Irmgard Diepolder Steven H Laval Susan Maxwell Judy Cossins Sabine Krause Nuria Muelas Juan J Vilchez Jaume Colomer Cecilia Jimenez Mallebrera Andres Nascimento Shahriar Nafissi Ariana Kariminejad Yalda Nilipour Bita Bozorgmehr Hossein Najmabadi Carmelo Rodolico Jörn P Sieb Ortrud K Steinlein Beate Schlotter Benedikt Schoser Janbernd Kirschner Ralf Herrmann Thomas Voit Anders Oldfors Christopher Lindbergh Andoni Urtizberea Maja von der Hagen Angela Hübner Jacqueline Palace Kate Bushby Volker Straub David Beeson Angela Abicht Hanns Lochmüller

Am J Hum Genet 2011 Feb;88(2):162-72

Institute of Cell Biology, Eidgenössische Technische Hochschule (ETH) Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ajhg.2011.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3035713PMC
February 2011

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

Authors:
Homa Tajsharghi Trond P Leren Saba Abdul-Hussein Mar Tulinius Leif Brunvand Hilde M Dahl Anders Oldfors

J Med Genet 2010 Aug 26;47(8):575-7. Epub 2009 Oct 26.

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http://dx.doi.org/10.1136/jmg.2009.072710DOI Listing
August 2010

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Authors:
Homa Tajsharghi David Hilton-Jones Olayinka Raheem Anna Maija Saukkonen Anders Oldfors Bjarne Udd

Brain 2010 May;133(Pt 5):1451-9

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awq083DOI Listing
May 2010

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

Authors:
Ali-Reza Moslemi Christopher Lindberg Johanna Nilsson Homa Tajsharghi Bert Andersson Anders Oldfors

N Engl J Med 2010 Apr;362(13):1203-10

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

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http://www.nejm.org/doi/abs/10.1056/NEJMoa0900661
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April 2010

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Authors:
Rita Horvath John P Kemp Helen A L Tuppen Gavin Hudson Anders Oldfors Suely K N Marie Ali-Reza Moslemi Serenella Servidei Elisabeth Holme Sara Shanske Gittan Kollberg Parul Jayakar Angela Pyle Harold M Marks Elke Holinski-Feder Mena Scavina Maggie C Walter Jorida Coku Andrea Günther-Scholz Paul M Smith Robert McFarland Zofia M A Chrzanowska-Lightowlers Robert N Lightowlers Michio Hirano Hanns Lochmüller Robert W Taylor Patrick F Chinnery Mar Tulinius Salvatore DiMauro

Brain 2009 Nov 31;132(Pt 11):3165-74. Epub 2009 Aug 31.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1093/brain/awp221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768660PMC
November 2009

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Authors:
Gittan Kollberg Már Tulinius Atle Melberg Niklas Darin Oluf Andersen Daniel Holmgren Anders Oldfors Elisabeth Holme

Brain 2009 Aug 30;132(Pt 8):2170-9. Epub 2009 Jun 30.

Department of Clinical Chemistry, Sahlgrenska University Hospital, SE-41345 Göteborg, Sweden.

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http://dx.doi.org/10.1093/brain/awp152DOI Listing
August 2009

TPM3 mutation in one of the original cases of cap disease.

Authors:
Monica Ohlsson Anna Fidzianska Homa Tajsharghi Anders Oldfors

Neurology 2009 Jun;72(22):1961-3

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1212/WNL.0b013e3181a82659DOI Listing
June 2009

A patient with two mitochondrial DNA mutations causing PEO and LHON.

Authors:
Atle Melberg Ali-Reza Moslemi Oscar Palm Raili Raininko Erik Stålberg Anders Oldfors

Eur J Med Genet 2009 Jan-Feb;52(1):47-8. Epub 2008 Nov 5.

Department of Neuroscience, University Hospital, Uppsala, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2008.10.004DOI Listing
April 2009

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Authors:
Jorge A Bevilacqua Marc Bitoun Valérie Biancalana Anders Oldfors Gisela Stoltenburg Kristl G Claeys Emmanuelle Lacène Guy Brochier Linda Manéré Pascal Laforêt Bruno Eymard Pascale Guicheney Michel Fardeau Norma Beatriz Romero

Acta Neuropathol 2009 Mar 16;117(3):283-91. Epub 2008 Dec 16.

INSERM, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s00401-008-0472-1DOI Listing
March 2009

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Authors:
Gittan Kollberg Niklas Darin Karin Benan Ali-Reza Moslemi Sigurd Lindal Már Tulinius Anders Oldfors Elisabeth Holme

Neuromuscul Disord 2009 Feb 12;19(2):147-50. Epub 2009 Jan 12.

Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Stråket 16, SE-413 45 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2008.11.014DOI Listing
February 2009

Thick filament diseases.

Authors:
Anders Oldfors Phillipa J Lamont

Adv Exp Med Biol 2008 ;642:78-91

Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.

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http://dx.doi.org/10.1007/978-0-387-84847-1_7DOI Listing
February 2009

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

Authors:
Homa Tajsharghi Eva Kimber Anna-Karin Kroksmark Ragnar Jerre Mar Tulinius Anders Oldfors

Arch Neurol 2008 Aug;65(8):1083-90

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1001/archneur.65.8.1083DOI Listing
August 2008

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.

Authors:
Julien Ochala Meishan Li Monica Ohlsson Anders Oldfors Lars Larsson

J Physiol 2008 Jun 17;586(12):2993-3004. Epub 2008 Apr 17.

Department of Neuroscience, Clinical Neurophysiology, University Hospital, Entrance 85, 3rd floor, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1113/jphysiol.2008.153650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2517209PMC
June 2008

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.

Authors:
Gittan Kollberg Már Tulinius Thomas Gilljam Ingegerd Ostman-Smith Gun Forsander Peter Jotorp Anders Oldfors Elisabeth Holme

N Engl J Med 2007 Oct;357(15):1507-14

Department of Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden.

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http://dx.doi.org/10.1056/NEJMoa066691DOI Listing
October 2007

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Authors:
Anne-Sophie Nicot Anne Toussaint Valérie Tosch Christine Kretz Carina Wallgren-Pettersson Erik Iwarsson Helen Kingston Jean-Marie Garnier Valérie Biancalana Anders Oldfors Jean-Louis Mandel Jocelyn Laporte

Nat Genet 2007 Sep 5;39(9):1134-9. Epub 2007 Aug 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, F-67400 Illkirch, France.

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http://www.nature.com/doifinder/10.1038/ng2086
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September 2007

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

Authors:
Homa Tajsharghi Monica Ohlsson Christopher Lindberg Anders Oldfors

Arch Neurol 2007 Sep;64(9):1334-8

Department of Pathology, Sahlgrenska University Hospital, S-413 45 Göteborg, Sweden.

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http://dx.doi.org/10.1001/archneur.64.9.1334DOI Listing
September 2007

Mitochondrial (mt)DNA changes in tissue may not be reflected by depletion of mtDNA in peripheral blood mononuclear cells in HIV-infected patients.

Authors:
Anne Maagaard Mona Holberg-Petersen Gittan Kollberg Anders Oldfors Leiv Sandvik Johan N Bruun

Antivir Ther 2006 ;11(5):601-8

Department of Infectious Diseases, Ullevaal University Hospital, Oslo, Norway.

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August 2007

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Authors:
Rikke K J Olsen Simon E Olpin Brage S Andresen Zofia H Miedzybrodzka Morteza Pourfarzam Begoña Merinero Frank E Frerman Michael W Beresford John C S Dean Nanna Cornelius Oluf Andersen Anders Oldfors Elisabeth Holme Niels Gregersen Douglass M Turnbull Andrew A M Morris

Brain 2007 Aug 20;130(Pt 8):2045-54. Epub 2007 Jun 20.

The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

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http://dx.doi.org/10.1093/brain/awm135DOI Listing
August 2007

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.

Authors:
Julien Ochala Mingxin Li Homa Tajsharghi Eva Kimber Mar Tulinius Anders Oldfors Lars Larsson

J Physiol 2007 Jun 12;581(Pt 3):1283-92. Epub 2007 Apr 12.

Department of Clinical Neurophysiology, Uppsala University Hospital, Entrance 85, 3rd floor, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1113/jphysiol.2007.129759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2170843PMC
June 2007

Hereditary myosin myopathies.

Authors:
Anders Oldfors

Neuromuscul Disord 2007 May 16;17(5):355-67. Epub 2007 Apr 16.

Department of Pathology, Sahlgrenska University Hospital, S-413 45 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2007.02.008DOI Listing
May 2007

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.

Authors:
Homa Tajsharghi Anders Oldfors Dominic P Macleod Michael Swash

Neurology 2007 Mar;68(12):962

Department of Pathology, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden.

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http://dx.doi.org/10.1212/01.wnl.0000257131.13438.2cDOI Listing
March 2007

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Authors:
Johannes A Mayr Ali-Reza Moslemi Holger Förster Adrian Kamper Carmen Idriceanu Wolfgang Muss Michael Huemer Anders Oldfors Wolfgang Sperl

Neuromuscul Disord 2006 Dec 20;16(12):874-7. Epub 2006 Oct 20.

University Children's Hospital, Paracelsus Private Medical University, Müllner Hauptstr 48, A-5020 Salzburg, Austria.

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http://dx.doi.org/10.1016/j.nmd.2006.08.010DOI Listing
December 2006

POLG1 mutations associated with progressive encephalopathy in childhood.

Authors:
Gittan Kollberg Ali-Reza Moslemi Niklas Darin Inger Nennesmo Ingibjörg Bjarnadottir Paul Uvebrant Elisabeth Holme Atle Melberg Már Tulinius Anders Oldfors

J Neuropathol Exp Neurol 2006 Aug;65(8):758-68

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1097/01.jnen.0000229987.17548.6eDOI Listing
August 2006

Cardiac fibrosis triggered by the kidney: a case report.

Authors:
Aso Saeed Gregor Guron Anders Oldfors Björn Lindelöw Hans Herlitz

Nephrol Dial Transplant 2006 Jun 22;21(6):1713-5. Epub 2006 Mar 22.

Department of Nephrology, Institute of Internal Medicine, The Sahlgrenska Academy at Göteborg University, Blå Stråket 7, S-413 45 Göteborg, Sweden.

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http://academic.oup.com/ndt/article/21/6/1713/1890337/Cardia
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http://dx.doi.org/10.1093/ndt/gfl015DOI Listing
June 2006

Diagnosis, pathogenesis and treatment of inclusion body myositis.

Authors:
Anders Oldfors Christopher Lindberg

Curr Opin Neurol 2005 Oct;18(5):497-503

Göteborg Neuromuscular Center, Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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October 2005

Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?

Authors:
Atle Melberg Inger Nennesmo Ali-Reza Moslemi Gittan Kollberg Petri Luoma Anu Suomalainen Elisabeth Holme Anders Oldfors

Acta Neuropathol 2005 Sep 25;110(3):315-6. Epub 2005 Jun 25.

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http://dx.doi.org/10.1007/s00401-005-1047-zDOI Listing
September 2005

A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation.

Authors:
Homa Tajsharghi Marc Pilon Anders Oldfors

Ann Neurol 2005 Sep;58(3):442-8

Department of Pathology, Göteborg University, Sahlgrenska Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1002/ana.20594DOI Listing
September 2005

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Authors:
Mikko Kärppä Riitta Herva Ali-Reza Moslemi Anders Oldfors Sakari Kakko Kari Majamaa

Brain 2005 Aug 27;128(Pt 8):1861-9. Epub 2005 Apr 27.

Department of Neurology, University of Oulu, Finland.

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http://dx.doi.org/10.1093/brain/awh515DOI Listing
August 2005

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Authors:
Már Tulinius Ali-Reza Moslemi Niklas Darin Elisabeth Holme Anders Oldfors

Neuromuscul Disord 2005 Jun;15(6):412-5

The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2005.03.010DOI Listing
June 2005

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

Authors:
Homa Tajsharghi Niklas Darin Mar Tulinius Anders Oldfors

Neuromuscul Disord 2005 Apr 28;15(4):299-302. Epub 2005 Jan 28.

Department of Pathology, Sahlgrenska University Hospital, 413 45 Göteborg, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966040033
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http://dx.doi.org/10.1016/j.nmd.2004.11.004DOI Listing
April 2005