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

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52

2014

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

American journal of human genetics, 2010-09, Vol.87 (3), p.410-417

2010

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

PloS one, 2017, Vol.12 (1), p.e0169309-e0169309

2017

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Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Stroke (1970), 2009-02, Vol.40 (2), p.e15-e17

2009

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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

PloS one, 2016-02, Vol.11 (2), p.e0149055-e0149055

2016

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HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Proceedings of the National Academy of Sciences - PNAS, 2015-05, Vol.112 (18), p.E2268-E2268

2015

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Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

PloS one, 2013-06, Vol.8 (6), p.e66145-e66145

2013

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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Nature genetics, 2001-08, Vol.28 (4), p.350-354

2001

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Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts

Cellular and molecular life sciences : CMLS, 2020-03, Vol.77 (6), p.1115-1133

2020

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Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

PLoS genetics, 2014-06, Vol.10 (6), p.e1004424-e1004424

2014

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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Brain (London, England : 1878), 2016-08, Vol.139 (Pt 8), p.2154-2163

2016

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Nigrostriatal denervation sine parkinsonism

Brain (London, England : 1878), 2016-04, Vol.139 (Pt 4), p.e25-e25

2016

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3,3′-Diaminobenzidine staining interferes with PCR-based DNA analysis

Scientific reports, 2018-01, Vol.8 (1), p.1272-8, Article 1272

2018

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Status epilepticus in POLG disease: a large multinational study

Journal of neurology, 2024, Vol.271 (8), p.5156-5164

2024

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Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

Brain (London, England : 1878), 2013-08, Vol.136 (Pt 8), p.2393-2404

2013

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The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Genetics in medicine, 2017-11, Vol.19 (11), p.1217-1225

2017

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Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Neuromuscular disorders : NMD, 2023-02, Vol.33 (2), p.119-132

2023

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Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis

Mitochondrion, 2017-05, Vol.34, p.32-35

2017

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Mitochondrial complex IV is lost in neurons in the cuprizone mouse model

Mitochondrion, 2020-01, Vol.50, p.58-62

2020

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Brain (London, England : 1878), 2006-07, Vol.129 (7), p.1685-1692

2006

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Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.3627-3634

2012

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Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

Mitochondrion, 2016-05, Vol.28, p.33-37

2016

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No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

Mitochondrion, 2017-01, Vol.32, p.10-15

2017

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Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Developmental medicine and child neurology, 2013-05, Vol.55 (5), p.440-447

2013

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

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Nigrostriatal denervation sine parkinsonism

3,3′-Diaminobenzidine staining interferes with PCR-based DNA analysis

Status epilepticus in POLG disease: a large multinational study

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis

Mitochondrial complex IV is lost in neurons in the cuprizone mouse model

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

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