E. Ostergaard

发表

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

Morten Duno, E. Shoubridge, M. Duno, 2007, American journal of human genetics.

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

M. Schwartz, J. Vissing, M. Duno, 2007, Brain : a journal of neurology.

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

C. Richelme, E. Ostergaard, A. Chaussenot, 2010, Journal of Medical Genetics.

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

H. Fledelius, T. Rosenberg, D. Schorderet, 2011, American journal of human genetics.

Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations

C. Chinopoulos, Ann Saada, A. Patócs, 2016, The Biochemical journal.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Robert W. Taylor, E. Bertini, R. Carrozzo, 2016, Journal of Inherited Metabolic Disease.

Exclusive neuronal expression of SUCLA2 in the human brain

M. Palkovits, T. Dóczi, C. Chinopoulos, 2013, Brain Structure and Function.

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

P. Dan, Ann Saada, E. Ostergaard, 2011, Biochimica et biophysica acta.

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

E. Holme, O. Hjalmarson, M. Schwartz, 2010, European Journal of Pediatrics.

Disorders caused by deficiency of succinate-CoA ligase

E. Ostergaard, 2008, Journal of Inherited Metabolic Disease.

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

J. García-Verdugo, P. Lapunzina, E. Ostergaard, 2014, American journal of medical genetics. Part A.

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

L. de Meirleir, L. Bindoff, E. Ostergaard, 2017, Journal of Medical Genetics.

Infant botulism. The first culture-confirmed Danish case.

E. Ostergaard, T. Balslev, D. A. Wandall, 1997, Neuropediatrics.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

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

A. Lemainque, C. Julier, S. Duchatelet, 2005, Human molecular genetics.

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

M. Duno, E. Ostergaard, E. Christensen, 2009, Journal of Inherited Metabolic Disease.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

The interplay between and mitochondrial DNA depletion

P. Dan, Ann Saada, E. Ostergaard, 2020 .

The impact of gender, puberty, and pregnancy in patients with POLG disease

S. Rahman, E. Brodtkorb, Christian Samsonsen, 2020, Annals of clinical and translational neurology.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

S. Rahman, E. Brodtkorb, L. Bindoff, 2020, Journal of inherited metabolic disease.

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

T. Rosenberg, M. Duno, E. Ostergaard, 2011, Molecular vision.

Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

E. Ostergaard, A. Lund, Olivia Sarah Strandbech, 2021, JIMD reports.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

C. Saunders, S. Rahman, S. Wortmann, 2017, Journal of Inherited Metabolic Disease.

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

O. Unal, T. Coşkun, E. Ostergaard, 2013, Journal of child neurology.

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

M. Duno, E. Ostergaard, F. Wibrand, 2015, Molecular genetics and metabolism reports.

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

T. Rosenberg, M. Duno, E. Ostergaard, 2010, Journal of Medical Genetics.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

E. Shoubridge, H. Antonicka, F. Sasarman, 2015, Human molecular genetics.

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

M. Duno, E. Ostergaard, F. Hansen, 2012, Acta paediatrica.

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

P. Uldall, E. Ostergaard, J. Ek, 2018, European Journal of Human Genetics.

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

A. Gerdes, E. Ostergaard, K. Wadt, 2019, Human Genome Variation.

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, American journal of human genetics.

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

P. Uldall, E. Ostergaard, J. Ek, 2018, European Journal of Human Genetics.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Lisa T. Emrick, Undiagnosed Diseases Network, J. Rosenfeld, 2021, Human mutation.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

Hearing impairment and renal failure associated with RMND1 mutations

M. Duno, E. Ostergaard, F. Wibrand, 2016, American journal of medical genetics. Part A.

A multicenter study on Leigh syndrome: disease course and predictors of survival

L. de Meirleir, L. Bindoff, E. Ostergaard, 2014, Orphanet Journal of Rare Diseases.

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

E. Shoubridge, Woranontee Weraarpachai, J. Vissing, 2015, Journal of Medical Genetics.

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

Morten Duno, R. Rodenburg, M. Duno, 2011, Journal of Medical Genetics.

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

E. Shoubridge, H. Antonicka, R. Rodenburg, 2010, American journal of human genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Exclusive neuronal expression of SUCLA2 in the human brain

M. Palkovits, T. Dóczi, C. Chinopoulos, 2013, Brain Structure and Function.

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

M. Duno, E. Ostergaard, E. Christensen, 2013, JIMD reports.

Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay

M. Elia, S. Giglio, E. Ostergaard, 2023, Cytogenetic and Genome Research.

Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

E. Ostergaard, L. Risom, Bente Hansen, 2016, Neuropediatrics.

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Robert W. Taylor, R. Horvath, E. Ostergaard, 2021, Human molecular genetics.

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

I. D. de Coo, E. Ostergaard, N. Darín, 2022, Kidney Diseases.