Found: 44
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Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-144
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- Publication type:
- Article
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
- Published in:
- 2013
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- Publication type:
- journal article
A Mendelian randomization study investigating the causal role of inflammation on Parkinson's disease.
- Published in:
- 2022
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- Publication type:
- journal article
Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia.
- Published in:
- 2020
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- Publication type:
- journal article
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
- Published in:
- 2018
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- Publication type:
- journal article
Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2231, doi. 10.3390/ijms23042231
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- Publication type:
- Article
Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3565, doi. 10.3390/ijms22073565
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- Publication type:
- Article
Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2226, doi. 10.3390/jcm8122226
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- Publication type:
- Article
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
- Published in:
- Scientific Reports, 2017, p. 41156, doi. 10.1038/srep41156
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- Publication type:
- Article
Patient-derived cells – an irreplaceable tool for research of reduced penetrance in movement disorders.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 2, p. 125, doi. 10.1515/medgen-2022-2133
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- Publication type:
- Article
Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10902-1
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- Publication type:
- Article
A Novel OPA3 Mutation Revealed by Exome Sequencing.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 6, p. 783, doi. 10.1001/jamaneurol.2013.1174
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- Publication type:
- Article
Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts.
- Published in:
- Frontiers in Cellular Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fncel.2016.00245
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- Publication type:
- Article
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00584-z
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- Publication type:
- Article
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10.
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00550-9
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- Publication type:
- Article
Discordance in monozygotic Parkinson's disease twins – continuum or dichotomy?
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1102, doi. 10.1002/acn3.775
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- Publication type:
- Article
Stem Cells and Organoid Technology in Precision Medicine in Inflammation: Are We There Yet?
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.573562
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- Publication type:
- Article
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 1, p. 158, doi. 10.1002/ana.25942
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- Publication type:
- Article
Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.
- Published in:
- 2019
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- Publication type:
- Letter
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 ( FAM36A) mutation.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 1, p. 207, doi. 10.1007/s00415-013-7177-7
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- Publication type:
- Article
Corrigendum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1225, doi. 10.1093/hmg/ddy408
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- Publication type:
- Article
SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2412, doi. 10.1093/hmg/ddx132
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- Publication type:
- Article
Mitochondrial Mechanisms of LRRK2 G2019S Penetrance.
- Published in:
- Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00881
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- Publication type:
- Article
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01284
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- Publication type:
- Article
iPS models of Parkin and PINK1.
- Published in:
- Biochemical Society Transactions, 2015, v. 43, n. 2, p. 302, doi. 10.1042/BST20150010
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- Publication type:
- Article
Polygenic Risk Scores Validated in Patient‐Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.
- Published in:
- Annals of Neurology, 2024, v. 96, n. 1, p. 133, doi. 10.1002/ana.26949
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- Publication type:
- Article
α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 6, p. 1173, doi. 10.1002/ana.26917
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- Publication type:
- Article
Mitochondria–Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1‐PD or PRKN‐PD Neurons.
- Published in:
- Movement Disorders, 2023, v. 38, n. 10, p. 1822, doi. 10.1002/mds.29525
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- Publication type:
- Article
Neuron‐Derived Misfolded α‐Synuclein in Blood: A Potential Biomarker for Parkinson's Disease?
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- Movement Disorders, 2023, v. 38, n. 3, p. 385, doi. 10.1002/mds.29331
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- Publication type:
- Article
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.
- Published in:
- Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
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- Publication type:
- Article
Linking Penetrance and Transcription in DYT‐THAP1: Insights From a Human iPSC‐Derived Cortical Model.
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- Movement Disorders, 2021, v. 36, n. 6, p. 1381, doi. 10.1002/mds.28506
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- Publication type:
- Article
Linking Penetrance and Transcription in DYT‐THAP1: Insights From a Human iPSC‐Derived Cortical Model.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1381, doi. 10.1002/mds.28506
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- Publication type:
- Article
Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease.
- Published in:
- 2021
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- Publication type:
- Letter
Genetic and Environmental Factors in Parkinson's Disease Converge on Immune Function and Inflammation.
- Published in:
- Movement Disorders, 2021, v. 36, n. 1, p. 25, doi. 10.1002/mds.28411
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- Publication type:
- Article
Cytokine Profiling in Human iPSC-Derived Dopaminergic Neuronal and Microglial Cultures.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 21, p. 2535, doi. 10.3390/cells12212535
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- Publication type:
- Article
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2444, doi. 10.1002/humu.23913
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- Publication type:
- Article
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1901, doi. 10.1002/humu.23602
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- Publication type:
- Article
Unraveling Cellular Phenotypes of Novel TorsinA/TOR1 A Mutations.
- Published in:
- Human Mutation, 2014, v. 35, n. 9, p. 1114, doi. 10.1002/humu.22604
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- Publication type:
- Article
Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 16, p. 3124, doi. 10.1093/hmg/ddq215
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- Publication type:
- Article
Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.
- Published in:
- 2018
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- Publication type:
- journal article
Dopamine oxidation mediates a time-dependent pathological cascade in Parkinson's disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Stimulus-triggered acquisition of pluripotency: Revolutionizing human disease modeling and regenerative therapies?
- Published in:
- 2014
- By:
- Publication type:
- Other
An in vitro bioengineered model of the human arterial neurovascular unit to study neurodegenerative diseases.
- Published in:
- Molecular Neurodegeneration, 2020, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13024-020-00418-z
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- Publication type:
- Article
Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 16, p. 5970, doi. 10.1523/JNEUROSCI.4441-10.2011
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- Publication type:
- Article