Publications by authors named "Elsebet Ostergaard"

45Publications

Mitochondrial dysfunction induced by variation in the non-coding genome - A proposed workflow to improve diagnostics.

Mitochondrion 2020 07 1;53:255-259. Epub 2020 Jun 1.

Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2020.05.013DOI Listing
July 2020

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

JIMD Rep 2019 Mar 14;46(1):35-45. Epub 2019 Mar 14.

Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.

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http://dx.doi.org/10.1002/jmd2.12007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498822PMC
March 2019

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.

Eur J Hum Genet 2018 10 19;26(10):1512-1520. Epub 2018 Jun 19.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/s41431-018-0204-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138752PMC
October 2018

A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.

Eur J Hum Genet 2018 09 24;26(9):1388-1391. Epub 2018 May 24.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://www.nature.com/articles/s41431-018-0184-5
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http://dx.doi.org/10.1038/s41431-018-0184-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117349PMC
September 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

J Med Genet 2018 01 3;55(1):21-27. Epub 2017 Nov 3.

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

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http://dx.doi.org/10.1136/jmedgenet-2017-104891DOI Listing
January 2018

Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient.

Neuropediatrics 2016 Oct 12;47(5):332-5. Epub 2016 Jul 12.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1055/s-0036-1584564DOI Listing
October 2016

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Mol Genet Metab Rep 2015 Jun 20;3:5-10. Epub 2015 Feb 20.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgmr.2015.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750589PMC
June 2015

Hearing impairment and renal failure associated with RMND1 mutations.

Am J Med Genet A 2016 Jan 23;170A(1):142-7. Epub 2015 Sep 23.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.37399DOI Listing
January 2016

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.

JIMD Rep 2016 25;25:65-70. Epub 2015 Jun 25.

Department of Neurology, Copenhagen Neuromuscular Center, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059218PMC
http://dx.doi.org/10.1007/8904_2015_459DOI Listing
June 2015

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

J Med Genet 2015 Mar 20;52(3):203-7. Epub 2015 Jan 20.

Department of Neurology and Neuromuscular Research Unit, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102914
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http://dx.doi.org/10.1136/jmedgenet-2014-102914DOI Listing
March 2015

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood.

Eur J Paediatr Neurol 2015 Jan 1;19(1):69-71. Epub 2014 Nov 1.

Neuromuscular Research Unit, University of Copenhagen, Rigshospitalet, Denmark.

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http://dx.doi.org/10.1016/j.ejpn.2014.10.006DOI Listing
January 2015

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

Am J Med Genet A 2014 May 19;164A(5):1143-50. Epub 2014 Mar 19.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36427DOI Listing
May 2014

Exclusive neuronal expression of SUCLA2 in the human brain.

Brain Struct Funct 2015 Jan 2;220(1):135-51. Epub 2013 Oct 2.

Department of Anatomy, Histology and Embryology, Semmelweis University, Budapest, 1094, Hungary.

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http://link.springer.com/content/pdf/10.1007/s00429-013-0643
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http://link.springer.com/10.1007/s00429-013-0643-2
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http://dx.doi.org/10.1007/s00429-013-0643-2DOI Listing
January 2015

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

JIMD Rep 2013 31;9:1-5. Epub 2012 Aug 31.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/8904_2012_173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565670PMC
February 2013

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Am J Hum Genet 2013 Mar 7;92(3):415-21. Epub 2013 Feb 7.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ajhg.2013.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591853PMC
March 2013

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy.

J Child Neurol 2013 Nov 10;28(11):1505-1508. Epub 2012 Sep 10.

1Department of Pediatrics, Division of Metabolism and Nutrition, Fellow of Metabolism, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073812458710DOI Listing
November 2013

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

Acta Paediatr 2012 Nov 5;101(11):e509-13. Epub 2012 Sep 5.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark.

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http://dx.doi.org/10.1111/j.1651-2227.2012.02807.xDOI Listing
November 2012

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.

Mol Vis 2011 4;17:1485-92. Epub 2011 Jun 4.

Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110495PMC
October 2011

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.

J Med Genet 2011 Nov 26;48(11):737-40. Epub 2011 May 26.

Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1136/jmg.2011.088856DOI Listing
November 2011

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.

Biochim Biophys Acta 2011 May 2;1812(5):625-9. Epub 2011 Feb 2.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.bbadis.2011.01.013DOI Listing
May 2011

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

Eur J Pediatr 2010 Feb 14;169(2):201-5. Epub 2009 Jun 14.

Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00431-009-1007-zDOI Listing
February 2010

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Hum Mol Genet 2009 Sep 12;18(18):3365-74. Epub 2009 Jun 12.

Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddp276DOI Listing
September 2009

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Am J Hum Genet 2007 Aug 4;81(2):383-7. Epub 2007 Jun 4.

Department of Clinical Genetics, National University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1086/519222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950792PMC
August 2007

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Brain 2007 Mar 7;130(Pt 3):853-61. Epub 2007 Feb 7.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1093/brain/awl383DOI Listing
March 2007

Hypertrichosis in patients with SURF1 mutations.

Am J Med Genet A 2005 Nov;138(4):384-8

John F. Kennedy Institute, Glostrup, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.30972DOI Listing
November 2005

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

Hum Mol Genet 2005 Jan 3;14(1):1-5. Epub 2004 Nov 3.

Genetics of Infectious and Autoimmune Diseases, Pasteur Institute, INSERM E102, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddi001DOI Listing
January 2005

Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.

Am J Med Genet A 2004 Jan;124A(1):74-8

Department of Medical Genetics, The John F. Kennedy Institute, Gl. Landevej 7, DK-2600 Glostrup, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.20380DOI Listing
January 2004

[Mitochondrial diseases. Clinical features, investigation and genetics].

Ugeskr Laeger 2003 Feb;165(7):663-8

John F. Kennedy Instituttet, Gl. Landevej 7, DK-2600 Glostrup.

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February 2003

Evidence for a separate type of migraine with aura: sporadic hemiplegic migraine.

Neurology 2003 Feb;60(4):595-601

Danish Headache Center, Department of Neurology, Glostrup Hospital, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1212/01.wnl.0000046524.25369.7dDOI Listing
February 2003