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1Academic Journal
المصدر: Molecular Brain, Vol 14, Iss 1, Pp 1-12 (2021)
مصطلحات موضوعية: GBA, LIMP2, Idiopathic PD fibroblasts, Lysosomal dysfunction, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-6606
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2Academic Journal
المؤلفون: Pollini, L., Tijssen, M. A.J.
المصدر: Pollini , L & Tijssen , M A J 2022 , ' A diagnosis of progressive myoclonic ataxia guided by blood biomarkers : Expert commentary ' , Parkinsonism and Related Disorders , vol. 94 , pp. 127-128 . https://doi.org/10.1016/j.parkreldis.2021.12.001
مصطلحات موضوعية: LIMP2, Neurophysiology, Next generation sequencing, Progressive myoclonus ataxia, SCARB2
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/52d36216-2b1f-4f47-b35e-3ab6f14daba9
https://research.rug.nl/en/publications/52d36216-2b1f-4f47-b35e-3ab6f14daba9
https://doi.org/10.1016/j.parkreldis.2021.12.001
https://pure.rug.nl/ws/files/204158477/A_diagnosis_of_progressive_myoclonic_ataxia_guided_by_blood_biomarkers_Expert_commentary_Elsevier_Enhanced_Reader.pdf -
3Academic Journal
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4Academic Journal
المؤلفون: van der Lienden, Martijn J.C., Aten, Jan, Marques, André R.A., Waas, Ingeborg S.E., Larsen, Per W.B., Claessen, Nike, van der Wel, Nicole N., Ottenhoff, Roelof, van Eijk, Marco, Aerts, Johannes M.F.G.
المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Centro de Estudos de Doenças Crónicas (CEDOC)
مصطلحات موضوعية: GCase, GPNMB, LIMP2, Lysosome, Macrophage, NPC, NPC1, Storage, Catalysis, Molecular Biology, Spectroscopy, Computer Science Applications, Physical and Theoretical Chemistry, Organic Chemistry, Inorganic Chemistry
Relation: PURE: 33748479; PURE UUID: 6e819c17-83b5-4a41-8d0c-fa4d88126543; Scopus: 85101796069; PubMed: 33802460; http://hdl.handle.net/10362/124966; https://doi.org/10.3390/ijms22052532
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5
المصدر: Molecular Brain
Molecular Brain, Vol 14, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Idiopathic PD fibroblasts, medicine.disease_cause, lcsh:RC346-429, Pathogenesis, Lysosomal dysfunction, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Progranulins, Internal medicine, Lysosome, LIMP2, medicine, Humans, Receptor, Fibroblast, Molecular Biology, lcsh:Neurology. Diseases of the nervous system, Aged, Aged, 80 and over, Receptors, Scavenger, Mutation, business.industry, Research, Lysosome-Associated Membrane Glycoproteins, ER retention, Parkinson Disease, Fibroblasts, Middle Aged, Protein Transport, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Case-Control Studies, Glucosylceramidase, Female, GBA, Haploinsufficiency, business, Lysosomes, Glucocerebrosidase, 030217 neurology & neurosurgery
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6
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7
المصدر: Virus Research
مصطلحات موضوعية: Rotavirus, 0301 basic medicine, Cancer Research, LP, late-penetrating, viruses, ReoT1L, mammalian reovirus type 1 Lang, medicine.disease_cause, Receptor, IGF Type 2, Virus entry, Mice, fluids and secretions, Vim, Vimentin, Protein Isoforms, RNA, Small Interfering, CI, cation-independent, Infectivity, LDH, lactate dehydrogenase, SORT1, Sortilin-1, CD, cation-dependent, virus diseases, CTSS, Cathepsin S, Infectious Diseases, Host-Pathogen Interactions, GM2AP, GM2 activator protein, LIMP2, lysosomal integral membrane protein 2, trans-Golgi Network, TGN, trans-golgi-network, Proteases, Genotype, Endosome, TLPs, triple-layered particles, CTSB, cathepsin B, Endosomes, CTSL1, Cathepsin L1, Biology, EP, early-penetrating, Article, Virus, Cathepsin, Cell Line, Microbiology, 03 medical and health sciences, Species Specificity, Viral entry, Virology, medicine, Animals, Humans, EEs, early endosomes, MEs, maturing endosomes, LEs, late endosomes, Biological Transport, Fibroblasts, Virus Internalization, Sortilin, Cathepsins, Macaca mulatta, Mannose-6-phosphate receptors, DLPs, double layered particles, Adaptor Proteins, Vesicular Transport, 030104 developmental biology, Gene Expression Regulation, Cytoplasm, Caco-2 Cells, M6PR, mannose-6-phosphate receptor(s)
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8
المؤلفون: Ecard, Jason
المساهمون: Biologie Cellulaire et Cancer, Institut Curie [Paris]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université, Franck Perez, Gaëlle Boncompain
المصدر: Biologie cellulaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS094⟩
مصطلحات موضوعية: CRIPR-Cas9, Protéines de la membrane du lysosome, Golgi apparatus, Limp2, Lamp1, Appareil de Golgi, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, CRISPR-Cas9, Lysosomal membrane proteins, Intracellular trafficking, Trafic intracellulaire
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9
المؤلفون: Ecard, Jason
المساهمون: Biologie Cellulaire et Cancer, Institut Curie [Paris]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université, Franck Perez, Gaëlle Boncompain, STAR, ABES
المصدر: Biologie cellulaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS094⟩
مصطلحات موضوعية: CRIPR-Cas9, Protéines de la membrane du lysosome, Golgi apparatus, Limp2, Lamp1, Appareil de Golgi, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, CRISPR-Cas9, Lysosomal membrane proteins, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Intracellular trafficking, Trafic intracellulaire
وصف الملف: application/pdf
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10Dissertation/ Thesis
المؤلفون: Ecard, Jason
المساهمون: Biologie Cellulaire et Cancer, Institut Curie Paris -Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université, Franck Perez, Gaëlle Boncompain
المصدر: https://theses.hal.science/tel-03141343 ; Biologie cellulaire. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS094⟩.
مصطلحات موضوعية: Intracellular trafficking, Lysosomal membrane proteins, Golgi apparatus, CRISPR-Cas9, Lamp1, Limp2, Trafic intracellulaire, Protéines de la membrane du lysosome, Appareil de Golgi, CRIPR-Cas9, [SDV.BC]Life Sciences [q-bio]/Cellular Biology
Relation: NNT: 2019SORUS094; tel-03141343; https://theses.hal.science/tel-03141343; https://theses.hal.science/tel-03141343/document; https://theses.hal.science/tel-03141343/file/ECARD_Jason_2019.pdf
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11Dissertation/ Thesis
المؤلفون: Ecard, Jason
المساهمون: Sorbonne université, Perez, Franck, Boncompain, Gaëlle
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12
المؤلفون: Oussoren, S.V., Oussoren S.V.
المساهمون: Aerts, J.M.F.G., Boot, R.G., Noteborn, M.H.M., Meijer, A.H., Cox, T.M., Lutgens, E., Leiden University
المصدر: None
مصطلحات موضوعية: Glucocerebrosidase, Activity based probes, LIMP2, Glucosylsphingosine, Glucosylceramide, Gaucher disease, Cathepsin
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13Dissertation/ Thesis
المؤلفون: Pasquier, Adrien
Thesis Advisors: Strasbourg, Ricci, Romeo
مصطلحات موضوعية: CD63, Granules d’insuline, PKD1, Diabète type 2, Limp2, Insulin granules, Td2, 572.4, 615
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14
المؤلفون: Pasquier, Adrien
المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg, Romeo Ricci
المصدر: Endocrinology and metabolism. Université de Strasbourg, 2016. English. ⟨NNT : 2016STRAJ083⟩
مصطلحات موضوعية: Diabète type 2, Granules d’insuline, Insulin granules, PKD1, CD63, Limp2, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Td2
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15Academic Journal
المؤلفون: Dibbens, Leanne, Schwake, Michael, Saftig, Paul, Rubboli, Guido
مصطلحات موضوعية: progressive myoclonus epilepsy, myoclonus, cerebellar syndrome, photosensitivity, SCARB2, LIMP2, lysosome
Relation: info:eu-repo/semantics/altIdentifier/issn/1294-9361; info:eu-repo/semantics/altIdentifier/issn/1950-6945; info:eu-repo/semantics/altIdentifier/wos/000405632300006; https://pub.uni-bielefeld.de/record/2913169
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16
المؤلفون: Paul Saftig, Michael Schwake, Leanne M. Dibbens, Guido Rubboli
المساهمون: Dibbens, Leanne, Schwake, Michael, Saftig, Paul, Rubboli, Guido
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hearing loss, photosensitivity, 030209 endocrinology & metabolism, Disease, Progressive myoclonus epilepsy, progressive myoclonus epilepsy, 03 medical and health sciences, 0302 clinical medicine, Lysosome, LIMP2, Medicine, Dementia, Humans, Renal Insufficiency, Receptors, Scavenger, business.industry, Lysosome-Associated Membrane Glycoproteins, SCARB2, General Medicine, Syndrome, medicine.disease, Myoclonic Epilepsies, Progressive, myoclonus, Peripheral neuropathy, medicine.anatomical_structure, Neurology, cerebellar syndrome, lysosome, Neurology (clinical), medicine.symptom, business, Myoclonus, 030217 neurology & neurosurgery
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17
المؤلفون: Oelbe, geb. Wagner, Miriam Svenja
المساهمون: Schwake, Michael, Lucius, Ralf
مصطلحات موضوعية: doctoral thesis, LIMP2, AMRF, Abschlussarbeit, Medizinische Fakultät, LIMP2, AMRF, ddc:610, ddc:6XX, Faculty of Medicine
وصف الملف: application/pdf
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18Dissertation/ Thesis
المؤلفون: Pasquier, Adrien
المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg, Romeo Ricci
المصدر: https://theses.hal.science/tel-02003629 ; Endocrinology and metabolism. Université de Strasbourg, 2016. English. ⟨NNT : 2016STRAJ083⟩.
مصطلحات موضوعية: CD63, Insulin granules, PKD1, Td2, Limp2, Granules d’insuline, Diabète type 2, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology
Relation: NNT: 2016STRAJ083; tel-02003629; https://theses.hal.science/tel-02003629; https://theses.hal.science/tel-02003629/document; https://theses.hal.science/tel-02003629/file/PASQUIER_Adrien_2016_ED414.pdf
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19Academic Journal
المؤلفون: Coutinho, Maria Francisca, Prata, Maria João, Alves, Sandra
مصطلحات موضوعية: Mannose-6-phosphate-dependent Pathway, Sortilin/neurotensin Receptor-3, Lysosomal Integral Membrane Protein 2 (LIMP2), Action Myoclonus-renal Failure Syndrome (AMRF), Doenças Genéticas
Relation: http://www.sciencedirect.com/science/article/pii/S1096719212002685; Mol Genet Metab. 2012 Nov;107(3):257-66. Epub 2012 Jul 20; http://hdl.handle.net/10400.18/1523
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20Academic Journal
المؤلفون: Michelakakis, H., Xiromerisiou, G., Dardiotis, E., Bozi, M., Vassilatis, D., Kountra, P. M., Patramani, G., Moraitou, M., Papadimitriou, D., Stamboulis, E., Stefanis, L., Zintzaras, E., Hadjigeorgiou, G. M.
المصدر: Movement Disorders ; ://WOS:000301339300013
مصطلحات موضوعية: haplotypes, LIMP2, Parkinson's disease, SCARB2, tag SNPs, LINKAGE DISEQUILIBRIUM, GAUCHER-DISEASE, ALPHA-SYNUCLEIN, GLUCOCEREBROSIDASE MUTATIONS, BETA-GLUCOCEREBROSIDASE, LYSOSOMAL, DEGRADATION, SUSCEPTIBILITY, POPULATIONS, LIMP-2, Clinical Neurology
Relation: http://hdl.handle.net/11615/31004
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