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How Do I Report Genes in a Paper?
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 594, doi. 10.1002/mdc3.13984
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- Article
How Do I Confirm that a New Mutation is Pathogenic?
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- Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 229, doi. 10.1002/mdc3.12600
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- Article
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 4, p. 499, doi. 10.1002/mdc3.12501
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- Article
Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept.
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- Frontiers in Aging Neuroscience, 2021, v. 13, p. 1, doi. 10.3389/fnagi.2021.713084
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- Article
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2753, doi. 10.1093/brain/awac464
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- Article
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
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- Article
Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2231, doi. 10.3390/ijms23042231
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- Article
Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients.
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- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2226, doi. 10.3390/jcm8122226
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- Article
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
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- Cerebellum, 2024, v. 23, n. 2, p. 479, doi. 10.1007/s12311-023-01557-x
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- Article
Lifestyle factors and clinical severity of Parkinson's disease.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31531-w
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- Article
A commentary on fine mapping and resequencing of the PARK16 locus in Parkinson's disease.
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- Journal of Human Genetics, 2015, v. 60, n. 8, p. 405, doi. 10.1038/jhg.2015.76
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- Article
Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans.
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- Nucleic Acids Research, 2012, v. 40, n. 1, p. 53, doi. 10.1093/nar/gkr690
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- Publication type:
- Article
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.710572
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- Article
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65439-w
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- Publication type:
- Article
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
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- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9270-4
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- Article
Molecular mechanisms defining penetrance of LRRK2-associated Parkinson's disease.
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- Medizinische Genetik, 2022, v. 34, n. 2, p. 103, doi. 10.1515/medgen-2022-2127
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- Article
Optical genome mapping of structural variants in Parkinson's disease-related induced pluripotent stem cells.
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- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10902-1
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- Article
Disease Penetrance of Late-Onset Parkinsonism A Meta-analysis.
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- JAMA Neurology, 2014, v. 71, n. 12, p. 1535, doi. 10.1001/jamaneurol.2014.1909
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- Article
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
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- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09417-y
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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.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00550-9
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- Article
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
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- 2021
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- Publication type:
- journal article
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
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- Annals of Neurology, 2021, v. 89, n. 1, p. 158, doi. 10.1002/ana.25942
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- Publication type:
- Article
Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome.
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- 2020
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- Publication type:
- Editorial
Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.
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- 2019
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- Publication type:
- Letter
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
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- 2018
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- Publication type:
- journal article
Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson's disease.
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- Journal of Neurology, 2022, v. 269, n. 8, p. 4195, doi. 10.1007/s00415-022-11041-x
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- Publication type:
- Article
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
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- Journal of Neurology, 2020, v. 267, n. 3, p. 770, doi. 10.1007/s00415-019-09640-2
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- Article
DNAJC13 mutations in Parkinson disease.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1794
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- Article
Mitochondrial Mechanisms of LRRK2 G2019S Penetrance.
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- 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.
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- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01284
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- Publication type:
- Article
Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review.
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- European Journal of Neurology, 2023, v. 30, n. 10, p. 3377, doi. 10.1111/ene.15969
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- Publication type:
- Article
Expression profile of NSDHL in human peripheral tissues.
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- Journal of Molecular Histology, 2012, v. 43, n. 1, p. 95, doi. 10.1007/s10735-011-9375-x
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- Publication type:
- Article
Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing.
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- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 11, p. 2659, doi. 10.1007/s10815-022-02628-4
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- Publication type:
- Article
Stability of Mosaic Divergent Repeat Interruptions in X‐Linked Dystonia‐Parkinsonism.
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- Movement Disorders, 2024, v. 39, n. 7, p. 1145, doi. 10.1002/mds.29809
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- Publication type:
- Article
Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism.
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- Movement Disorders, 2023, v. 38, n. 10, p. 1837, doi. 10.1002/mds.29563
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- Publication type:
- Article
Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family.
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- Movement Disorders, 2023, v. 38, n. 6, p. 1107, doi. 10.1002/mds.29390
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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.
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- Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
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- Article
Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation.
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- Movement Disorders, 2022, v. 37, n. 7, p. 1405, doi. 10.1002/mds.29025
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- Publication type:
- Article
Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors.
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- Movement Disorders, 2020, v. 35, n. 10, p. 1854, doi. 10.1002/mds.28238
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- Publication type:
- Article
Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.887644
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- Publication type:
- Article
Special Issue "Parkinson's Disease: Genetics and Pathogenesis".
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- Genes, 2023, v. 14, n. 3, p. 737, doi. 10.3390/genes14030737
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- Article
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
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- Genes, 2022, v. 13, n. 1, p. 126, doi. 10.3390/genes13010126
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- Publication type:
- Article
Utility and implications of exome sequencing in early-onset Parkinson's disease.
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- 2019
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- Publication type:
- journal article
Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.
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- 2018
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- Publication type:
- journal article
Genetic variability of the retromer cargo recognition complex in parkinsonism.
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- Movement Disorders, 2015, v. 30, n. 4, p. 580, doi. 10.1002/mds.26104
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- Publication type:
- Article
DNAJC13 genetic variants in parkinsonism.
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- Movement Disorders, 2015, v. 30, n. 2, p. 273, doi. 10.1002/mds.26064
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- Publication type:
- Article
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
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- Movement Disorders, 2013, v. 28, n. 6, p. 811, doi. 10.1002/mds.25421
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- Article