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Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
- Published in:
- Molecular Medicine, 2011, v. 17, n. 11/12, p. 1253, doi. 10.2119/molmed.2010.00241
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- Publication type:
- Article
Concerted EP2 and EP4 Receptor Signaling Stimulates Autocrine Prostaglandin E2 Activation in Human Podocytes.
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- Cells (2073-4409), 2020, v. 9, n. 5, p. 1256, doi. 10.3390/cells9051256
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- Publication type:
- Article
Functional lung MRI for regional monitoring of patients with cystic fibrosis.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0187483
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- Publication type:
- Article
Development of the "Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.
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- Journal of Child Neurology, 2021, v. 36, n. 8, p. 635, doi. 10.1177/0883073821989154
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- Publication type:
- Article
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
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- Journal of Child Neurology, 2021, v. 36, n. 6, p. 468, doi. 10.1177/0883073820977997
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- Publication type:
- Article
Endogenous purinergic signaling is required for osmotic volume regulation of retinal glial cells.
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- Journal of Neurochemistry, 2010, v. 112, n. 5, p. 1261, doi. 10.1111/j.1471-4159.2009.06541.x
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- Publication type:
- Article
Reduction in corpora lutea number in obese melanocortin-4-receptor-deficient mice.
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- Reproductive Biology & Endocrinology, 2009, v. 7, p. 1, doi. 10.1186/1477-7827-7-24
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- Publication type:
- Article
Dysfunction of the adhesion G protein-coupled receptor latrophilin 1 (ADGRL1/LPHN1) increases the risk of obesity.
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- Signal Transduction & Targeted Therapy, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41392-024-01810-7
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- Publication type:
- Article
Novel candidate genes for impaired nephron development in a rat model with inherited nephron deficit and albuminuria.
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- Clinical & Experimental Pharmacology & Physiology, 2015, v. 42, n. 10, p. 1051, doi. 10.1111/1440-1681.12462
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- Publication type:
- Article
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo.
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- Human Molecular Genetics, 2004, v. 13, n. 9, p. 893, doi. 10.1093/hmg/ddh105
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- Publication type:
- Article
Histological differences between lumbar and tail intervertebral discs in mice.
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- Journal of Anatomy, 2022, v. 240, n. 1, p. 84, doi. 10.1111/joa.13540
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- Publication type:
- Article
Use baseline axial length measurements in myopic patients to predict the control of myopia with and without atropine 0.01%.
- Published in:
- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0254061
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- Publication type:
- Article
Neurodegenerative Erkrankungen des Kindesalters.
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- Medizinische Genetik, 2018, v. 30, n. 2, p. 231, doi. 10.1007/s11825-018-0194-2
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- Publication type:
- Article
Upregulation in Inflammation and Collagen Expression in Perirenal but Not in Mesenteric Adipose Tissue from Diabetic Munich Wistar Frömter Rats.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 17008, doi. 10.3390/ijms242317008
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- Publication type:
- Article
Imbalance in Bone Morphogenic Proteins 2 and 7 Is Associated with Renal and Cardiovascular Damage in Chronic Kidney Disease.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 40, doi. 10.3390/ijms24010040
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- Publication type:
- Article
Autophagic vacuolar myopathy is a common feature of CLN3 disease.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 11, p. 1385, doi. 10.1002/acn3.662
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- Publication type:
- Article
Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy.
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- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 1041, doi. 10.1002/acn3.116
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- Publication type:
- Article
Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0302382
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- Publication type:
- Article
A simple method for inducing estrous cycle stage-specific morphological changes in the vaginal epithelium of immature female mice.
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- Laboratory Animals, 2016, v. 50, n. 5, p. 344, doi. 10.1177/0023677215617387
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- Publication type:
- Article
Neutralization of pathogenic beta1-receptor autoantibodies by aptamers in vivo: the first successful proof of principle in spontaneously hypertensive rats.
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- Molecular & Cellular Biochemistry, 2014, v. 393, n. 1/2, p. 177, doi. 10.1007/s11010-014-2057-8
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- Publication type:
- Article
Reliable detection of RNA in hippocampus sections of mice by FISH up to a post-mortem delay of 24 h.
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- Histochemistry & Cell Biology, 2024, v. 161, n. 6, p. 539, doi. 10.1007/s00418-024-02277-x
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- Publication type:
- Article
Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 4, p. 1521, doi. 10.1093/ndt/gfr487
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- Publication type:
- Article
Hedgehog signaling is a potent regulator of liver lipid metabolism and reveals a GLI-code associated with steatosis.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.13308
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- Publication type:
- Article
Clinical and Functional Relevance of Melanocortin-4 Receptor Variants in Obese German Children.
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- Hormone Research in Paediatrics, 2012, v. 78, n. 4, p. 237, doi. 10.1159/000343816
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- Publication type:
- Article
<italic>MEST</italic> mediates the impact of prenatal bisphenol A exposure on long-term body weight development.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0478-z
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- Publication type:
- Article
Finerenone Reduces Intrinsic Arterial Stiffness in Munich Wistar Frömter Rats, a Genetic Model of Chronic Kidney Disease.
- Published in:
- 2020
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- Publication type:
- journal article
Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.
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- European Journal of Endocrinology, 2002, v. 147, n. 5, p. 597, doi. 10.1530/eje.0.1470597
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- Publication type:
- Article
Visual perception and macular integrity in non-classical CLN2 disease.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 11, p. 3693, doi. 10.1007/s00417-022-05662-1
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- Publication type:
- Article
Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2015, v. 253, n. 8, p. 1245, doi. 10.1007/s00417-014-2814-0
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- Publication type:
- Article
Genetic Variants on Rat Chromosome 8 Exhibit Profound Effects on Hypertension Severity and Survival During Nitric Oxide Inhibition in Spontaneously Hypertensive Rats.
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- American Journal of Hypertension, 2014, v. 27, n. 3, p. 294, doi. 10.1093/ajh/hpt236
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- Article
Impact of Nephron Number Dosing on Cardiorenal Damage and Effects of ACE Inhibition.
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- American Journal of Hypertension, 2011, v. 24, n. 4, p. 474, doi. 10.1038/ajh.2010.206
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- Publication type:
- Article
A Twofold Genetic Increase of ACE Expression Has No Effect on the Development of Spontaneous Hypertension.
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- American Journal of Hypertension, 2008, v. 21, n. 2, p. 200, doi. 10.1038/ajh.2007.38
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- Publication type:
- Article
Neurons exhibit Lyz2 promoter activity in vivo: Implications for using LysM-Cre mice in myeloid cell research.
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- European Journal of Immunology, 2016, v. 46, n. 6, p. 1529, doi. 10.1002/eji.201546108
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- Article
Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1083113
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- Publication type:
- Article
Reduced Food Intake and Body Weight in Mice Deficient for the G Protein-Coupled Receptor GPR82.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029400
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- Publication type:
- Article
Involvement of the V2 Vasopressin Receptor in Adaptation to Limited Water Supply.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005573
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- Publication type:
- Article
The parent and family impact of CLN3 disease: an observational survey-based study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03119-8
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- Publication type:
- Article
Aminoglycoside pretreatment partially restores the function of truncated V<sub>2</sub> vasopressin receptors found in patients with nephrogenic diabetes insipidus.
- Published in:
- 2002
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- Publication type:
- journal article
Altered microglial phagocytosis in GPR34-deficient mice.
- Published in:
- Glia, 2015, v. 63, n. 2, p. 206, doi. 10.1002/glia.22744
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- Publication type:
- Article
Patient‐reported outcomes in Friedreich's ataxia after withdrawal from idebenone.
- Published in:
- Acta Neurologica Scandinavica, 2019, v. 139, n. 6, p. 533, doi. 10.1111/ane.13088
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- Publication type:
- Article
4.2 Discrepancy Between In-Vivo Measure and Ex-Vivo Calculation of Pulse Wave Velocity in Retinal Arteries.
- Published in:
- 2018
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- Publication type:
- Abstract
Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry.
- Published in:
- Journal of Mass Spectrometry, 2021, v. 56, n. 1, p. 1, doi. 10.1002/jms.4675
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- Publication type:
- Article
Microglia Actively Remodel Adult Hippocampal Neurogenesis through the Phagocytosis Secretome.
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- Journal of Neuroscience, 2020, v. 40, n. 7, p. 1453, doi. 10.1523/JNEUR0SCI.0993-19.2019
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- Publication type:
- Article
Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor.
- Published in:
- 2015
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- Publication type:
- letter
Mapping genetic determinants of kidney damage in rat models.
- Published in:
- Hypertension Research, 2012, v. 35, n. 7, p. 675, doi. 10.1038/hr.2012.77
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- Publication type:
- Article
The ligand specificity of the G-protein-coupled receptor GPR34.
- Published in:
- Biochemical Journal, 2012, v. 443, n. 3, p. 841, doi. 10.1042/BJ20112090
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- Publication type:
- Article
Quantification of localised vascular wedge‐shaped defects in glaucoma.
- Published in:
- Clinical & Experimental Ophthalmology, 2022, v. 50, n. 7, p. 724, doi. 10.1111/ceo.14134
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- Publication type:
- Article
Determination of retinal nerve fibre layer and ganglion cell/inner plexiform layers progression rates using two optical coherence tomography systems: The PROGRESSA study.
- Published in:
- Clinical & Experimental Ophthalmology, 2020, v. 48, n. 7, p. 915, doi. 10.1111/ceo.13826
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- Publication type:
- Article
Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: A prospective multi‐site study.
- Published in:
- Clinical & Experimental Ophthalmology, 2020, v. 48, n. 4, p. 442, doi. 10.1111/ceo.13724
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- Publication type:
- Article
Performance of iPad‐based threshold perimetry in glaucoma and controls.
- Published in:
- Clinical & Experimental Ophthalmology, 2018, v. 46, n. 4, p. 346, doi. 10.1111/ceo.13082
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- Publication type:
- Article