Anders Oldfors

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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December 2020

Authors:

Anders Oldfors

Neuromuscul Disord 2020 10 23;30(10):795. Epub 2020 Sep 23.

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October 2020

Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Authors:

Kittichate Visuttijai Carola Hedberg-Oldfors Ulrika Lindgren Sara Nordström Ólöf Elíasdóttir Christopher Lindberg Anders Oldfors

Acta Neurol Scand 2020 Aug 31. Epub 2020 Aug 31.

Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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August 2020

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.

Brain 2020 08;143(8):2406-2420

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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August 2020

COX deficiency and leukoencephalopathy due to a novel homozygous mutation.

Authors:

Carola Hedberg-Oldfors Niklas Darin Christer Thomsen Christopher Lindberg Anders Oldfors

Neurol Genet 2020 Aug 16;6(4):e464. Epub 2020 Jun 16.

Department of Pathology and Genetics (C.H.-O., C.T., A.O.) and Department of Pediatrics (N.D.), Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg; and Department of Neurology (C.L.), Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden.

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August 2020

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.

Authors:

Rahul Phadke Carola Hedberg-Oldfors Renata S Scalco David M Lowe Michael Ashworth Marco Novelli Roshni Vara Aine Merwick Halima Amer Reecha Sofat Max Sugarman Ana Jovanovic Mark Roberts Vasiliki Nakou Andrew King Istvan Bodi Heinz Jungbluth Anders Oldfors Elaine Murphy

J Inherit Metab Dis 2020 Sep 16;43(5):1002-1013. Epub 2020 Apr 16.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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September 2020

Deep sequencing of mitochondrial DNA and characterization of a novel mutation in a patient with arPEO.

Authors:

Carola Hedberg-Oldfors Bertil Macao Swaraj Basu Christopher Lindberg Bradley Peter Direnis Erdinc Jay P Uhler Erik Larsson Maria Falkenberg Anders Oldfors

Neurol Genet 2020 Feb 10;6(1):e391. Epub 2020 Jan 10.

Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.

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February 2020

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Authors:

Carola Hedberg-Oldfors Willem De Ridder Ognian Kalev Klaus Böck Kittichate Visuttijai Georg Caravias Ana Töpf Volker Straub Jonathan Baets Anders Oldfors

Neuromuscul Disord 2019 12 23;29(12):951-960. Epub 2019 Oct 23.

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

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December 2019

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

Authors:

Christina Sundal Susana Carmona Maria Yhr Odd Almström Maria Ljungberg John Hardy Carola Hedberg-Oldfors Åsa Fred José Brás Anders Oldfors Oluf Andersen Rita Guerreiro

Acta Neuropathol Commun 2019 11 27;7(1):188. Epub 2019 Nov 27.

Center for Neurodegenerative Science, Van Andel Institute, 333 Bostwick Ave. N.E, Grand Rapids, MI, 49503-2518, USA.

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November 2019

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Acta Neuropathol Commun 2019 10 28;7(1):167. Epub 2019 Oct 28.

APHP, Department of Neurology, Raymond Poincaré Hospital, Garches, France.

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October 2019

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.

Authors:

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

J Clin Endocrinol Metab 2020 02;105(2)

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

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February 2020

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 09 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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September 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 06 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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June 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 08 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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August 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 06 15;29(6):483-485. Epub 2019 Mar 15.

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

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June 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 07 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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July 2019

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Hum Mol Genet 2019 06;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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June 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 02 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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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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February 2019

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

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

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

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December 2018

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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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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February 2019

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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September 2018

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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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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January 2019

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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August 2018

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

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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August 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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February 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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February 2018

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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July 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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August 2017

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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September 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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January 2017

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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September 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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October 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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October 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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November 2016

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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December 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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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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May 2016

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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November 2015

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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December 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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October 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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June 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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July 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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April 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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April 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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January 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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March 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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May 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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December 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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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

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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January 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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February 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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April 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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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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May 2014

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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October 2013

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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February 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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December 2013

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

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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March 2014

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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June 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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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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June 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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January 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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May 2013

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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June 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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August 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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June 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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September 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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July 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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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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March 2012

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

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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May 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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August 2011

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

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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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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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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February 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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February 2011

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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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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April 2010

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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August 2010

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

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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November 2009