Anders Oldfors

Anders Oldfors

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Anders Oldfors

Anders Oldfors

Publications by authors named "Anders Oldfors"

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

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.

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.

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.

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

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.

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.

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

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

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

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

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?

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

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

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

Tubular aggregates in congenital myasthenic syndrome.

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.

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.

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

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

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.

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.

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.

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

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

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.

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.

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

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

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.

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.

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.

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.

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.

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.

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

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

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

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

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

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

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.

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

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

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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http://ehjcimaging.oxfordjournals.org/cgi/doi/10.1093/ehjci/
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http://dx.doi.org/10.1093/ehjci/jet079DOI Listing
February 2014

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

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.

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

New insights in the field of muscle glycogenoses.

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

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

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.

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.

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.

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.

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.

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.

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.

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.

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

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

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.

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.

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.

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.

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

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

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.

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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http://dx.doi.org/10.1056/NEJMoa0900661DOI Listing
April 2010

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

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.

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.

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

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

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.

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.

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.

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.

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.

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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http://dx.doi.org/10.1038/ng2086DOI Listing
September 2007

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

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.

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

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

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August 2007

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

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.

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.

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.

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.

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.

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

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

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.

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.

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).

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