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Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.
- Published in:
- Translational Neurodegeneration, 2024, v. 13, n. 1, p. 1, doi. 10.1186/s40035-024-00437-6
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- Publication type:
- Article
MULTIPLE IDIOPATHIC APICAL ROOT RESORPTION: A REVIEW.
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- Journal of Pearldent, 2024, v. 15, n. 1, p. 4, doi. 10.5958/2229-4457.2024.00002.1
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- Publication type:
- Article
Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report.
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- Children, 2024, v. 11, n. 8, p. 960, doi. 10.3390/children11080960
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- Publication type:
- Article
Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8586, doi. 10.3390/ijms25168586
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- Publication type:
- Article
Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna.
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- Wiener Klinische Wochenschrift, 2022, v. 134, n. 11/12, p. 471, doi. 10.1007/s00508-022-02021-2
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- Publication type:
- Article
Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with Fabry disease.
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- Wiener Klinische Wochenschrift, 2015, v. 127, n. 23/24, p. 931, doi. 10.1007/s00508-015-0731-9
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- Publication type:
- Article
Clinical outcome of collodion baby: A retrospective review.
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- Indian Journal of Dermatology, Venereology & Leprology, 2013, v. 79, n. 4, p. 555, doi. 10.4103/0378-6323.113110
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- Publication type:
- Article
The sirtuin inhibitor cambinol reduces intracellular glucosylceramide with ceramide accumulation by inhibiting glucosylceramide synthase.
- Published in:
- Bioscience, Biotechnology & Biochemistry, 2020, v. 84, n. 11, p. 2264, doi. 10.1080/09168451.2020.1794785
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- Publication type:
- Article
pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases.
- Published in:
- Angewandte Chemie, 2015, v. 127, n. 40, p. 11862, doi. 10.1002/ange.201505147
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- Publication type:
- Article
Cauda equina syndrome due to an intra-dural sacral cyst in type-1 Gaucher disease.
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- European Spine Journal, 2004, v. 13, n. 3, p. 249, doi. 10.1007/s00586-003-0657-1
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- Publication type:
- Article
Severe pathologic compression of three consecutive vertebrae in Gaucher's disease: a case report and review of the literature.
- Published in:
- European Spine Journal, 2003, v. 12, n. 1, p. 97, doi. 10.1007/s00586-002-0399-5
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- Publication type:
- Article
Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?
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- European Radiology, 2015, v. 25, n. 10, p. 2969, doi. 10.1007/s00330-015-3715-2
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- Publication type:
- Article
Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.
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- European Radiology, 2013, v. 23, n. 11, p. 3005, doi. 10.1007/s00330-013-2924-9
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- Publication type:
- Article
Gaucher Disease and Dental Approaches.
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- European Journal of Therapeutics, 2021, v. 27, n. 4, p. 318, doi. 10.5152/eurjther.2021.21025
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- Publication type:
- Article
Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease.
- Published in:
- Journal of Patient-Reported Outcomes, 2020, v. 4, n. 1, p. 1, doi. 10.1186/s41687-020-00230-9
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- Article
Anthony H. Futerman, Ari Zimran: Gaucher Disease.
- Published in:
- 2007
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- Publication type:
- Book Review
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x
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- Publication type:
- Article
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 426, doi. 10.1007/s00439-002-0894-0
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- Publication type:
- Article
Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 400, doi. 10.1007/s004390000380
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- Publication type:
- Article
Bone Marrow Multipotent Mesenchymal Stromal Cells as Autologous Therapy for Osteonecrosis: Effects of Age and Underlying Causes.
- Published in:
- Bioengineering (Basel), 2021, v. 8, n. 5, p. 1, doi. 10.3390/bioengineering8050069
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- Publication type:
- Article
An Unusual Presentation of Gaucher's Disease: Aortic Valve Fibrosis in a Patient Homozygous for a Rare G377S Mutation.
- Published in:
- Collegium Antropologicum, 2010, v. 34, n. 1, p. 275
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- Publication type:
- Article
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
- Published in:
- Neuroscientist, 2018, v. 24, n. 5, p. 540, doi. 10.1177/1073858417748875
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- Publication type:
- Article
Pharmacological Chaperones and Coenzyme Q<sub>10</sub> Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.
- Published in:
- Scientific Reports, 2015, p. 10903, doi. 10.1038/srep10903
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- Publication type:
- Article
Design and Application of a Novel High-throughput Screening Technique for 1-Deoxynojirimycin.
- Published in:
- Scientific Reports, 2015, p. 8563, doi. 10.1038/srep08563
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- Publication type:
- Article
The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 8, p. 716, doi. 10.3390/cells13080716
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- Publication type:
- Article
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration.
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- Cells (2073-4409), 2022, v. 11, n. 15, p. 2343, doi. 10.3390/cells11152343
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- Publication type:
- Article
iPSC-Derived Gaucher Macrophages Display Growth Impairment and Activation of Inflammation-Related Cell Death.
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- Cells (2073-4409), 2021, v. 10, n. 11, p. 2822, doi. 10.3390/cells10112822
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- Publication type:
- Article
Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 9, p. 2286, doi. 10.3390/cells10092286
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- Publication type:
- Article
The Uncovered Function of the Drosophila GBA1a -Encoded Protein.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 3, p. 630, doi. 10.3390/cells10030630
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- Publication type:
- Article
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.
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- Cells (2073-4409), 2019, v. 8, n. 4, p. 364, doi. 10.3390/cells8040364
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- Publication type:
- Article
Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.
- Published in:
- Systematic Reviews, 2017, v. 6, p. 1, doi. 10.1186/s13643-017-0483-x
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- Publication type:
- Article
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
- Published in:
- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1335058
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- Publication type:
- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
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- Journal of Human Genetics, 2015, v. 60, n. 5, p. 285, doi. 10.1038/jhg.2015.27
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- Publication type:
- Article
Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
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- Journal of Human Genetics, 2015, v. 60, n. 2, p. 85, doi. 10.1038/jhg.2014.110
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- Publication type:
- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 223, doi. 10.1038/jhg.2014.5
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- Publication type:
- Article
A common and two novel GBA mutations in Thai patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 594, doi. 10.1038/jhg.2013.60
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- Publication type:
- Article
Non-immune Hemolysis in Gaucher Disease and Review of the Literature.
- Published in:
- Rambam Maimonides Medical Journal, 2021, v. 12, n. 3, p. 1, doi. 10.5041/RMMJ.10446
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- Publication type:
- Article
Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37454-4
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- Publication type:
- Article
Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher's Disease Type 3.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00295
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- Publication type:
- Article
Shoulder Osteonecrosis: Pathogenesis, Causes, Clinical Evaluation, Imaging, and Classification.
- Published in:
- Orthopaedic Surgery, 2020, v. 12, n. 5, p. 1340, doi. 10.1111/os.12788
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- Publication type:
- Article
Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat.
- Published in:
- Neurology Research International, 2010, p. 1, doi. 10.1155/2010/358534
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- Publication type:
- Article
Glucosylceramide accumulation in microglia triggers STING-dependent neuroinflammation and neurodegeneration in mice.
- Published in:
- Science Signaling, 2024, v. 17, n. 829, p. 1, doi. 10.1126/scisignal.adk8249
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- Publication type:
- Article
Wandering Spleen with 720-degree Torsion Treated with Splenectomy and Distal Pancreatectomy.
- Published in:
- 2019
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- Publication type:
- journal article
Gaucher Disease.
- Published in:
- JAMA: Journal of the American Medical Association, 2007, v. 298, n. 11, p. 1358, doi. 10.1001/jama.298.11.1358
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- Publication type:
- Article
Glucocerebrosidase treatment of type I Gaucher disease with severe pulmonary involvement.
- Published in:
- 1994
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- Publication type:
- journal article
Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Soluble mannose receptor: A potential biomarker in Gaucher disease.
- Published in:
- European Journal of Haematology, 2024, v. 112, n. 5, p. 794, doi. 10.1111/ejh.14171
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- Publication type:
- Article
Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance.
- Published in:
- European Journal of Haematology, 2023, v. 111, n. 6, p. 922, doi. 10.1111/ejh.14105
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- Publication type:
- Article
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
- Published in:
- Public Health Genomics, 2021, v. 24, n. 3/4, p. 139, doi. 10.1159/000514507
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- Publication type:
- Article
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
- Published in:
- Public Health Genomics, 2021, v. 24, n. 1/2, p. 139, doi. 10.1159/000514507
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- Publication type:
- Article