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A nationwide study of the incidence, prevalence and mortality of Parkinson's disease in the Norwegian population.
- Published in:
- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00280-4
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- Publication type:
- Article
Common gene expression signatures in Parkinson's disease are driven by changes in cell composition.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00932-7
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- Publication type:
- Article
Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00915-8
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- Publication type:
- Article
Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012146
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- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52
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- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
- Published in:
- 2014
- By:
- Publication type:
- journal article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-1
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- Publication type:
- Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
- Published in:
- 2013
- By:
- Publication type:
- journal article
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Nigrostriatal denervation sine parkinsonism.
- Published in:
- 2016
- By:
- Publication type:
- commentary
The ANeED study: Ambroxol in new and early dementia with Lewy bodies: Human/Human trials: Other.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042589
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- Publication type:
- Article
Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, n. 10, p. 1293, doi. 10.1016/j.jalz.2018.04.006
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- Publication type:
- Article
Understanding the Epilepsy in POLG Related Disease.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 9, p. 1845, doi. 10.3390/ijms18091845
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- Publication type:
- Article
Not every estimate counts – evaluation of cell composition estimation approaches in brain bulk tissue data.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01195-2
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- Publication type:
- Article
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086340
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- Publication type:
- Article
Novel <i>SACS</i> Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066145
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- Publication type:
- Article
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-55
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- Publication type:
- Article
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Differential transcript usage in the Parkinson's disease brain.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009182
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- Publication type:
- Article
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 8, p. 1142, doi. 10.1007/s00415-008-0858-y
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- Publication type:
- Article
Early Forms of α -Synuclein Pathology Are Associated with Neuronal Complex I Deficiency in the Substantia Nigra of Individuals with Parkinson's Disease.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 6, p. 747, doi. 10.3390/biom12060747
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- Publication type:
- Article
NSAID use is not associated with Parkinson's disease incidence: A Norwegian Prescription Database study.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0256602
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- Publication type:
- Article
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
- Published in:
- Bioscience Reports, 2017, v. 37, n. 2, p. 1, doi. 10.1042/BSR20170251
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- Publication type:
- Article
Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids.
- Published in:
- Advanced Science, 2024, v. 11, n. 18, p. 1, doi. 10.1002/advs.202307136
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- Publication type:
- Article
Neuronal loss drives differentially expressed protein‐pathways in the PSP globus pallidus.
- Published in:
- Clinical & Translational Medicine, 2023, v. 13, n. 7, p. 1, doi. 10.1002/ctm2.1280
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- Publication type:
- Article
The angiogenic switch leads to a metabolic shift in human glioblastoma.
- Published in:
- Neuro-Oncology, 2017, v. 19, n. 3, p. 383, doi. 10.1093/neuonc/now175
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- Publication type:
- Article
Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report.
- Published in:
- BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1135-7
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- Publication type:
- Article
Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report
- Published in:
- BMC Research Notes, 2015, v. 8, n. 1, p. 171, doi. 10.1186/s13104-015-1135-7
- By:
- Publication type:
- Article
Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0239824
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- Publication type:
- Article
Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2393, doi. 10.1093/brain/awt103
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- Publication type:
- Article
Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3627, doi. 10.1093/brain/aws223
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- Publication type:
- Article
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1428, doi. 10.1093/brain/awq067
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- Publication type:
- Article
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 818, doi. 10.1093/brain/awn007
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- Publication type:
- Article
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1685, doi. 10.1093/brain/awl097
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- Publication type:
- Article
Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Using urine to diagnose large‐scale mtDNA deletions in adult patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1318, doi. 10.1002/acn3.51119
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- Publication type:
- Article
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease.
- Published in:
- Nature Communications, 2016, v. 7, n. 11, p. 13548, doi. 10.1038/ncomms13548
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- Publication type:
- Article
Real-World Dosing of OnabotulinumtoxinA and IncobotulinumtoxinA for Cervical Dystonia and Blepharospasm: Results from TRUDOSE and TRUDOSE II.
- Published in:
- Toxins, 2021, v. 13, n. 7, p. 488, doi. 10.3390/toxins13070488
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- Publication type:
- Article
Simvastatin is associated with decreased risk of Parkinson disease.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Molecular pathogenesis of polymerase γ-related neurodegeneration.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Molecular pathogenesis of polymerase gamma-related neurodegeneration.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 1, p. 66, doi. 10.1002/ana.24185
- By:
- Publication type:
- Article
Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
- Published in:
- International Journal of Biological Sciences, 2024, v. 20, n. 9, p. 2860, doi. 10.7150/ijbs.93445
- By:
- Publication type:
- Article
Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
- Published in:
- International Journal of Biological Sciences, 2024, v. 20, n. 8, p. 2860, doi. 10.7150/ijbs.93445
- By:
- Publication type:
- Article
The NAD<sup>+</sup> Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease.
- Published in:
- International Journal of Biological Sciences, 2024, v. 20, n. 4, p. 1194, doi. 10.7150/ijbs.91624
- By:
- Publication type:
- Article
Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 10, p. 2201, doi. 10.1007/s00415-015-7703-x
- By:
- Publication type:
- Article
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 2, p. 358, doi. 10.1007/s00415-013-7203-9
- By:
- Publication type:
- Article
Erdheim-Chester disease presenting with an intramedullary spinal cord lesion.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 2, p. 292, doi. 10.1007/s00415-011-6176-9
- By:
- Publication type:
- Article
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.
- Published in:
- 2018
- By:
- Publication type:
- Erratum
The presence of anaemia negatively influences survival in patients with POLG disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 861, doi. 10.1007/s10545-017-0084-9
- By:
- Publication type:
- Article