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The R1441C-Lrrk2 mutation induces myeloid immune cell exhaustion in an age- and sex-dependent manner in mice.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 772, p. 1, doi. 10.1126/scitranslmed.adl1535
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- Article
Relationship between brain iron deposition and mitochondrial dysfunction in idiopathic Parkinson's disease.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-021-00426-9
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- Publication type:
- Article
In vitro and in vivo optimized reconstruction for low-keV virtual monoenergetic photon-counting detector CT angiography of lower legs.
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- European Radiology Experimental, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41747-024-00481-x
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- Article
Sex Differences in Dystonia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 973, doi. 10.1002/mdc3.14059
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- Publication type:
- Article
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 626, doi. 10.1002/mdc3.14020
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- Article
Neuroenergetic Changes in Patients with X‐Linked Dystonia‐Parkinsonism and Female Carriers.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 550, doi. 10.1002/mdc3.14001
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- Article
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
An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 12, p. 1777, doi. 10.1002/mdc3.13909
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- Article
Genetic Testing for GBA and LRRK2 Mutations: Is it Time for Routine Use?
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 1, p. S26, doi. 10.1002/mdc3.13619
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- Publication type:
- Article
Genetic Testing for GBA and LRRK2 Mutations: Is it Time for Routine Use?
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- Movement Disorders Clinical Practice, 2023, v. 10, p. S26, doi. 10.1002/mdc3.13619
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- Publication type:
- Article
Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 183, doi. 10.1002/mdc3.13376
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- Publication type:
- Article
Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 4, p. 453, doi. 10.1002/mdc3.12931
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- Publication type:
- Article
How Do I Confirm that a New Mutation is Pathogenic?
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 229, doi. 10.1002/mdc3.12600
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- Publication type:
- Article
First Report of a Filipino with Mohr-Tranebjaerg Syndrome.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 4, p. 417, doi. 10.1002/mdc3.12210
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- Publication type:
- Article
In-hospital metabolite changes in infective endocarditis—a longitudinal <sup>1</sup>H NMR-based study.
- Published in:
- European Journal of Clinical Microbiology & Infectious Diseases, 2019, v. 38, n. 8, p. 1553, doi. 10.1007/s10096-019-03586-z
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- Publication type:
- Article
Association of FXI activity with thrombo-inflammation, extracellular matrix, lipid metabolism and apoptosis in venous thrombosis.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13174-5
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- Publication type:
- Article
Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept.
- Published in:
- Frontiers in Aging Neuroscience, 2021, v. 13, p. 1, doi. 10.3389/fnagi.2021.713084
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- Publication type:
- Article
USP14 inhibition corrects an in vivo model of impaired mitophagy.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201809014
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- Publication type:
- Article
Low IL-10/TNFα Ratio in Patients with Coronary Artery Disease and Reduced Left Ventricular Ejection Fraction with a Poor Prognosis After 10 Years.
- Published in:
- Inflammation, 2015, v. 38, n. 2, p. 911, doi. 10.1007/s10753-014-0053-5
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- Publication type:
- Article
Identification of surrogate agonists for the human FPRL-1 receptor by autocrine selection in yeast.
- Published in:
- Nature Biotechnology, 1998, v. 16, n. 13, p. 1334, doi. 10.1038/4310
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- Article
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
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- 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
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1075, doi. 10.1093/brain/awac160
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- 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
'Moving genes': how dystonia genes functionally converge on the transcriptome.
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- 2020
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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
Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.
- Published in:
- 2020
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- Publication type:
- Letter
Essential phenotypes of NOTCH2NLC-related repeat expansion disorder.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 5, doi. 10.1093/brain/awz404
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- Publication type:
- Article
Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. e1, doi. 10.1093/brain/awz351
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- Publication type:
- Article
Essential phenotypes of NOTCH2NLC-related repeat expansion disorder.
- Published in:
- 2019
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- Publication type:
- journal article
Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification.
- Published in:
- 2019
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- Publication type:
- Letter
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
- Published in:
- 2018
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- Publication type:
- journal article
Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism.
- Published in:
- 2018
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- Publication type:
- journal article
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
- Published in:
- 2017
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- Publication type:
- journal article
The evolving spectrum of PRRT2-associated paroxysmal diseases.
- Published in:
- 2015
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- Publication type:
- journal article
Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 3, p. 748, doi. 10.3390/ijms20030748
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- Publication type:
- Article
A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report.
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- 2022
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- Publication type:
- journal article
Telemedicine-Based Specialized Care Improves the Outcome of Anticoagulated Individuals with Venous Thromboembolism—Results from the thrombEVAL Study.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 10, p. 3281, doi. 10.3390/jcm9103281
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- Publication type:
- Article
Specialized Management of Oral Anticoagulation Therapy Improves Outcome in Patients with Chronic Renal Insufficiency.
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- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 645, doi. 10.3390/jcm9030645
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- Publication type:
- Article
Structural Changes Associated with Progression of Motor Deficits in Spinocerebellar Ataxia 17.
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- Cerebellum, 2010, v. 9, n. 2, p. 210, doi. 10.1007/s12311-009-0150-4
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- Publication type:
- Article
Lifestyle factors and clinical severity of Parkinson's disease.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31531-w
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- Publication type:
- Article
Atherosclerosis and Its Impact on the Outcomes of Patients with Deep Venous Thrombosis.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 5, p. 734, doi. 10.3390/life12050734
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- Publication type:
- Article
The Quiet Dissemination of American Modernism: George Sakier's Designs for American Radiator.
- Published in:
- Design Issues, 2012, v. 28, n. 1, p. 81, doi. 10.1162/DESI_a_00126
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- Publication type:
- Article
Expression of the c- fgr related transcripts in epstein-barr virus-associated malignancies.
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- International Journal of Cancer, 1988, v. 42, n. 1, p. 29, doi. 10.1002/ijc.2910420107
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- Publication type:
- Article
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23491-4
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- Publication type:
- Article
2017 Ghidul Societăţii Europene de Cardiologie (ESC) pentru diagnosticul şi tratamentul Bolii Arteriale Periferice, în colaborare cu Societatea Europeană de Chirurgie Vasculară (ESVS).
- Published in:
- Romanian Journal of Cardiology, 2018, v. 28, n. 1, p. 57, doi. 10.1093/eurheartj/ehx095#supplementary-data
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- Publication type:
- Article
Acute deep vein thrombosis suppresses peripheral T cell effector function.
- Published in:
- British Journal of Haematology, 2019, v. 184, n. 5, p. 847, doi. 10.1111/bjh.15192
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- Publication type:
- Article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
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- Publication type:
- Article
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1308, doi. 10.1038/ng.487
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- Publication type:
- Article
Wytyczne ESC dotyczące rozpoznawania i leczenia chorób tętnic obwodowych w 2017 roku, przygotowane we współpracy z ESVS.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2017, v. 75, n. 11, p. 1065, doi. 10.5603/KP.2017.0216
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- Publication type:
- Article