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Automated syndromic surveillance for the 2002 Winter Olympics.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Genetic Polymorphisms of the Angiotensin II type 1 (AT1) Receptor Gene.
- Published in:
- European Heart Journal, 1994, v. 15, n. suppl_D, p. 108, doi. 10.1093/eurheartj/15.suppl_d.108
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- Publication type:
- Article
The changing paradigm of sexually transmitted disease control in the era of managed health care.
- Published in:
- 1998
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- Publication type:
- journal article
Management of neuronopathic Gaucher disease: A European consensus.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 319, doi. 10.1023/A:1010514614570
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- Publication type:
- Article
Dopamine Exerts No Acute Effects on Kv1.3 in Activated Encephalitogenic T Cells.
- Published in:
- Neuroimmunomodulation, 2005, v. 12, n. 1, p. 45, doi. 10.1159/000082363
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- Publication type:
- Article
Formation of world-centered perception of intra-saccadic motion streaks.
- Published in:
- Journal of Eye Movement Research, 2019, v. 12, n. 7, p. 374
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- Publication type:
- Article
Rendering the invisible visible during microsaccades.
- Published in:
- Journal of Eye Movement Research, 2019, v. 12, n. 7, p. 363
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- Publication type:
- Article
Differences in learning between global and vector-specific saccadic adaptation.
- Published in:
- Journal of Eye Movement Research, 2019, v. 12, n. 7, p. 168
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- Publication type:
- Article
How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 4, p. 1375, doi. 10.1007/s10072-022-06533-7
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- Publication type:
- Article
Der Gesundheitsdatenschutz im Privatversicherungsrecht.
- Published in:
- GesR: Gesundheitsrecht, 2018, v. 17, n. 1, p. 64
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- Publication type:
- Article
Improved spatio-temporal measurements of visually evoked fields using optically-pumped magnetometers.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01854-7
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- Publication type:
- Article
From the Centers for Disease Control and Prevention.
- Published in:
- JAMA: Journal of the American Medical Association, 2002, v. 287, n. 8, p. 977
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- Publication type:
- Article
Coccidioidomycosis in Workers at an Archeologic Site--Dinosaur National Monument, Utah, June-July 2001.
- Published in:
- JAMA: Journal of the American Medical Association, 2001, v. 286, n. 24, p. 3072, doi. 10.1001/jama.286.24.3072
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- Publication type:
- Article
Role of Community-Based Organizations in Control of Sexually Transmitted Diseases.
- Published in:
- JAMA: Journal of the American Medical Association, 1998, v. 280, n. 5, p. 419, doi. 10.1001/jama.280.5.419
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- Publication type:
- Article
Expanding the clinical and genetic spectra of <italic>NKX6‐2</italic>‐related disorder.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 5, p. 1087, doi. 10.1111/cge.13221
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- Publication type:
- Article
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 6, p. 536, doi. 10.1111/cge.12762
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- Publication type:
- Article
Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 2, p. 119, doi. 10.1111/j.1399-0004.2009.01325.x
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- Publication type:
- Article
Frequency and predictors of acute ischaemic lesions on brain magnetic resonance imaging in young patients with a clinical diagnosis of transient ischaemic attack.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 7, p. 1174, doi. 10.1111/ene.13012
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- Publication type:
- Article
Heritability of young- and old-onset ischaemic stroke.
- Published in:
- European Journal of Neurology, 2015, v. 22, n. 11, p. 1488, doi. 10.1111/ene.12827
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- Publication type:
- Article
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
- Published in:
- European Journal of Neurology, 2013, v. 20, n. 2, p. 402, doi. 10.1111/j.1468-1331.2012.03817.x
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- Publication type:
- Article
Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.
- Published in:
- European Journal of Neurology, 2011, v. 18, n. 4, p. 631, doi. 10.1111/j.1468-1331.2010.03227.x
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- Publication type:
- Article
Oculomotor Adaptation Elicited By Intra-Saccadic Visual Stimulation: Time-Course of Efficient Visual Target Perturbation.
- Published in:
- Frontiers in Human Neuroscience, 2016, p. 1, doi. 10.3389/fnhum.2016.00091
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- Publication type:
- Article
Intraoperative Neuromonitoring does not Reduce the Incidence of Recurrent Laryngeal Nerve Palsy in Thyroid Reoperations: Results of a Retrospective Comparative Analysis.
- Published in:
- World Journal of Surgery, 2012, v. 36, n. 6, p. 1348, doi. 10.1007/s00268-012-1548-6
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- Publication type:
- Article
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0274-1
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- Publication type:
- Article
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
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
- By:
- Publication type:
- journal article
Abnormal Oculomotor Corollary Discharge Signaling as a Trans-diagnostic Mechanism of Psychosis.
- Published in:
- Schizophrenia Bulletin, 2024, v. 50, n. 3, p. 631, doi. 10.1093/schbul/sbad180
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- Publication type:
- Article
Fabry disease: a review of current management strategies.
- Published in:
- QJM: An International Journal of Medicine, 2010, v. 103, n. 9, p. 641, doi. 10.1093/qjmed/hcq117
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- Publication type:
- Article
Absence of angiotensin II type 1 receptor gene mutations in human adrenal tumors.
- Published in:
- European Journal of Endocrinology, 1997, v. 137, n. 3, p. 262, doi. 10.1530/eje.0.1370262
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- Publication type:
- Article
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3945, doi. 10.3390/ijms24043945
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- Publication type:
- Article
Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 573, doi. 10.3390/ijms24010573
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- Publication type:
- Article
A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease—Identifying Those at the Greatest Risk.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12211, doi. 10.3390/ijms232012211
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- Publication type:
- Article
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1627, doi. 10.3390/ijms23031627
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- Publication type:
- Article
Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7699, doi. 10.3390/ijms22147699
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- Publication type:
- Article
Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2539, doi. 10.3390/ijms22052539
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- Publication type:
- Article
Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7397, doi. 10.3390/ijms21197397
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- Publication type:
- Article
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 13, p. 4577, doi. 10.3390/ijms21134577
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- Publication type:
- Article
Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4502, doi. 10.3390/ijms21124502
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- Publication type:
- Article
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 956, doi. 10.3390/ijms21030956
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- Publication type:
- Article
Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 24, p. 6288, doi. 10.3390/ijms20246288
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- Publication type:
- Article
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5185, doi. 10.3390/ijms20205185
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- Publication type:
- Article
Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 12, p. 3033, doi. 10.3390/ijms20123033
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- Publication type:
- Article
Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 4, p. 972, doi. 10.3390/ijms19040972
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- Publication type:
- Article
Glucosylsphingosine Causes Hematological and Visceral Changes in Mice--Evidence for a Pathophysiological Role in Gaucher Disease.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2192, doi. 10.3390/ijms18102192
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- Publication type:
- Article
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann–Pick Disease Type C1.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 777, doi. 10.3390/ijms18040777
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- Publication type:
- Article
Pharmacologic Treatment Assigned for Niemann Pick Type C1 Disease Partly Changes Behavioral Traits in Wild-Type Mice.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1866, doi. 10.3390/ijms17111866
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- Publication type:
- Article
ADAM23 promotes neuronal differentiation of human neural progenitor cells.
- Published in:
- Cellular & Molecular Biology Letters, 2017, v. 22, n. 1, p. 1, doi. 10.1186/s11658-017-0045-1
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- Publication type:
- Article
Quantitative and kinetic profile of Wnt/β-catenin signaling components during human neural progenitor cell differentiation.
- Published in:
- Cellular & Molecular Biology Letters, 2011, v. 16, n. 4, p. 515, doi. 10.2478/s11658-011-0021-0
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- Publication type:
- Article