المؤلفون: Katanaev, Vladimir

المصدر: ISSN: 2576-2095 ; Animal models and experimental medicine, vol. 6, no. 3 (2023) p. 230-236.

مصطلحات موضوعية: info:eu-repo/classification/ddc/612, Drosophila, Disease modeling, Humanization, Neurological diseases, Animals, Rats, Mice, Humans, Drosophila / genetics, Drosophila melanogaster / genetics, Disease Models, Animal, Nervous System Diseases / genetics, Drug Discovery

Relation: info:eu-repo/semantics/altIdentifier/pmid/37323110; https://archive-ouverte.unige.ch/unige:169610; unige:169610

الاتاحة: https://archive-ouverte.unige.ch/unige:169610

المؤلفون: Kolabas, Zeynep Ilgin, Kuemmerle, Louis B, Rong, Zhouyi, Mai, Hongcheng, Höher, Luciano, Jeridi, Denise, Molbay, Muge, Khalin, Igor, Deligiannis, Ioannis K, Negwer, Moritz, Roberts, Kenny, Simats, Alba, Perneczky, Robert, Carofiglio, Olga, Todorov, Mihail I, Horvath, Izabela, Ozturk, Furkan, Hummel, Selina, Biechele, Gloria, Zatcepin, Artem, Unterrainer, Marcus, Gnoerich, Johannes, Roodselaar, Jay, Förstera, Benjamin, Shrouder, Joshua, Khosravani, Pardis, Tast, Benjamin, Richter, Lisa, Díaz-Marugán, Laura, Kaltenecker, Doris, Lux, Laurin, Chen, Ying, Zhao, Shan, Rauchmann, Boris Stephan, Ulukaya, Selin, Sterr, Michael, Kunze, Ines, Stanic, Karen, Kan, Vanessa W Y, Besson-Girard, Simon, Katzdobler, Sabrina, Palleis, Carla, Schädler, Julia, Paetzold, Johannes C, Liebscher, Sabine, Ali, Mayar, Hauser, Anja E, Gokce, Ozgun, Lickert, Heiko, Steinke, Hanno, Benakis, Corinne, Braun, Christian, Martinez-Jimenez, Celia P, Buerger, Katharina, Albert, Nathalie L, Höglinger, Günter, Kapoor, Saketh, Levin, Johannes, Haass, Christian, Kopczak, Anna, Dichgans, Martin, Havla, Joachim, Kümpfel, Tania, Kerschensteiner, Martin, Schifferer, Martina, Simons, Mikael, Liesz, Arthur, Bartos, Laura M, Krahmer, Natalie, Bayraktar, Omer A, Franzmeier, Nicolai, Plesnila, Nikolaus, Erener, Suheda, Puelles, Victor G, Delbridge, Claire, Bhatia, Harsharan Singh, Hellal, Farida, Elsner, Markus, Büttner, Maren, Bechmann, Ingo, Ondruschka, Benjamin, Brendel, Matthias, Theis, Fabian J, Erturk, Ali, Caliskan, Ozum Sehnaz

المصدر: Cell 186(17), 3706 - 3725.e29 (2023). doi:10.1016/j.cell.2023.07.009

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Nervous System Diseases: pathology, Mice, Animals, Humans, Bone Marrow: metabolism, Skull: diagnostic imaging, Brain: diagnostic imaging, Brain: metabolism, Positron-Emission Tomography: methods, Nervous System Diseases: genetics, Nervous System Diseases: metabolism, Carrier Proteins: metabolism, Receptors, GABA: metabolism, Skull: cytology, 3D-imaging, DISCO clearing, PET imaging, immune cell trafficking, neuroinflammation, neurological disorders, non-invasive monitoring, proteomics, scRNA-seq, skull-brain connection, Carrier Proteins, GABA, TSPO protein, human

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0092-8674; info:eu-repo/semantics/altIdentifier/issn/1097-4172; info:eu-repo/semantics/altIdentifier/pmid/pmid:37562402; https://pub.dzne.de/record/259959; https://pub.dzne.de/search?p=id:%22DZNE-2023-00812%22

الاتاحة: https://pub.dzne.de/record/259959
https://pub.dzne.de/search?p=id:%22DZNE-2023-00812%22

المؤلفون: Pan, Mengyu, Roe, James M, Nudel, Ron, Schork, Andrew J, Iakunchykova, Olena, Fjell, Anders M, Walhovd, Kristine B, Werge, Thomas, Chen, Chi-Hua, Benros, Michael E, Wang, Yunpeng

المصدر: Pan , M , Roe , J M , Nudel , R , Schork , A J , Iakunchykova , O , Fjell , A M , Walhovd , K B , Werge , T , Chen , C-H , Benros , M E & Wang , Y 2023 , ' Circulating S100B levels at birth and risk of six major neuropsychiatric or neurological disorders : a two-sample Mendelian Randomization Study ' , Translational Psychiatry , vol. 13 , 174 . https://doi.org/10.1038/s41398-023-02478-3

مصطلحات موضوعية: Infant, Newborn, Humans, Aged, Genome-Wide Association Study, Mendelian Randomization Analysis, Nervous System Diseases/genetics, Parkinson Disease, Depressive Disorder, Major/genetics, S100 Calcium Binding Protein beta Subunit/genetics

وصف الملف: application/pdf

الاتاحة: https://curis.ku.dk/portal/da/publications/circulating-s100b-levels-at-birth-and-risk-of-six-major-neuropsychiatric-or-neurological-disorders(2f9cd861-766d-49e7-91a2-dc400a243452).html
https://doi.org/10.1038/s41398-023-02478-3
https://curis.ku.dk/ws/files/356051505/s41398_023_02478_3.pdf

المؤلفون: Kollmer, Jennifer, Weiler, Markus, Sam, Georges, Faber, Jennifer, Hayes, John M, Heiland, Sabine, Bendszus, Martin, Wick, Wolfgang, Jacobi, Heike

المصدر: European journal of neurology 29(6), 1782-1790 (2022). doi:10.1111/ene.15305

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Ataxia, Humans, Machado-Joseph Disease: diagnostic imaging, Machado-Joseph Disease: genetics, Magnetic Resonance Imaging: methods, Magnetic Resonance Spectroscopy: methods, Peripheral Nerves: diagnostic imaging, Peripheral Nerves: pathology, Peripheral Nervous System Diseases: diagnostic imaging, Peripheral Nervous System Diseases: genetics, Peripheral Nervous System Diseases: pathology, electrophysiology, magnetic resonance neurography, polyneuropathy, quantitative imaging markers, spinocerebellar ataxia

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1471-0552; info:eu-repo/semantics/altIdentifier/issn/1468-1331; info:eu-repo/semantics/altIdentifier/issn/1351-5101; info:eu-repo/semantics/altIdentifier/pmid/pmid:35224825; https://pub.dzne.de/record/163300; https://pub.dzne.de/search?p=id:%22DZNE-2022-00080%22

الاتاحة: https://pub.dzne.de/record/163300
https://pub.dzne.de/search?p=id:%22DZNE-2022-00080%22

المؤلفون: Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Baets, Jonathan, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Molnar, Judit, Riess, Olaf, Schüle, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van Os, Nienke, Wayand, Melanie, Wilke, Carlo, van de Warrenburg, Bart, Schöls, Ludger, Bevot, Andrea, Zuchner, Stephan, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Lochmüller, Hanns, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Cruz, Pedro M. Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المصدر: http://lobid.org/resources/99370671030206441#!, 29(9):1332-1336.

مصطلحات موضوعية: Neurodevelopmental disorders, Genomics/standards [MeSH], Datasets as Topic [MeSH], Humans [MeSH], Practice Guidelines as Topic [MeSH], Whole Exome Sequencing/methods [MeSH], Genomics/methods [MeSH], Neurodegenerative diseases, Viewpoint, Nervous System Diseases/pathology [MeSH], Genetic Testing/standards [MeSH], Rare Diseases/genetics [MeSH], Whole Exome Sequencing/standards [MeSH], Genetic Testing/methods [MeSH], Nervous System Diseases/genetics [MeSH], Movement disorders, Rare Diseases/pathology [MeSH]

Relation: https://repository.publisso.de/resource/frl:6442786; https://doi.org/10.1038/s41431-021-00901-1; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440537/

الاتاحة: https://repository.publisso.de/resource/frl:6442786
https://doi.org/10.1038/s41431-021-00901-1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440537/

المؤلفون: Schüle-Freyer, Rebecca, Timmann, Dagmar, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis, Consortium, Solve-RD, Erasmus, Corrie E, Reichbauer, Jennifer, Wayand, Melanie, Solve-RD-DITF-RND, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea

المصدر: European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Datasets as Topic, Genetic Testing: methods, Genetic Testing: standards, Genomics: methods, Genomics: standards, Humans, Nervous System Diseases: genetics, Nervous System Diseases: pathology, Practice Guidelines as Topic, Rare Diseases: genetics, Rare Diseases: pathology, Exome Sequencing: methods, Exome Sequencing: standards

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:33972714; info:eu-repo/semantics/altIdentifier/issn/1018-4813; info:eu-repo/semantics/altIdentifier/issn/1476-5438; https://pub.dzne.de/record/155566; https://pub.dzne.de/search?p=id:%22DZNE-2021-00744%22

الاتاحة: https://pub.dzne.de/record/155566
https://pub.dzne.de/search?p=id:%22DZNE-2021-00744%22

المؤلفون: Sebastiano Aleo, Claudia Cinnante, Sabrina Avignone, Elisabetta Prada, Giulietta Scuvera, Paola Francesca Ajmone, Angelo Selicorni, Maria Antonella Costantino, Fabio Triulzi, Paola Marchisio, Cristina Gervasini, Donatella Milani

المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

مصطلحات موضوعية: epigenetics, neuroimaging, nervous system diseases/genetics, olfactory bulb, rare diseases, mendelian disorders of the epigenetic machinery, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fcell.2020.00710/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/f3764a3467c14d6b9656f6852a32c381

المؤلفون: Hengel, Holger, Buchert, Rebecca, Sturm, Marc, Haack, Tobias B., Schelling, Yvonne, Mahajnah, Muhammad, Sharkia, Rajech, Azem, Abdussalam, Balousha, Ghassan, Ghanem, Zaid, falana, mohammed, Balousha, Osama, Ayesh, Suhail, Keimer, Reinhard, Deigendesch, Werner, Zaidan, Jimmy, Marzouqa, Hiyam, Bauer, Peter, Schöls, Ludger

المصدر: http://lobid.org/resources/99370671030206441#!, 28(8):1034-1043.

مصطلحات موضوعية: Genetic Predisposition to Disease [MeSH], Female [MeSH], Humans [MeSH], Whole Exome Sequencing/statistics, Genetics research, Genetic Loci [MeSH], Arabs/genetics [MeSH], Article, Pedigree [MeSH], Male [MeSH], Whole Exome Sequencing/standards [MeSH], Neurological disorders, Nervous System Diseases/genetics [MeSH], Genetic testing, Gene Frequency [MeSH]

Relation: https://repository.publisso.de/resource/frl:6471968; https://doi.org/10.1038/s41431-020-0609-9; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382450/

الاتاحة: https://repository.publisso.de/resource/frl:6471968
https://doi.org/10.1038/s41431-020-0609-9
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382450/

المؤلفون: Coutinho, MF, Santos, JI, Mendonça, LS, Matos, L, João Prata, M, Jurado, AS, Lima, MCP, Alves, S

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Lysosomal storage diseases (LSDs), Neuropathy, RNA interference (RNAi), SiRNA nanodelivery systems, Stable nucleic acid lipid particles (SNALPs), Substrate reduction therapy (SRT), Animals, Brain / metabolism, Central Nervous System Diseases / complications, Central Nervous System Diseases / drug therapy, Central Nervous System Diseases / genetics, Central Nervous System Diseases / metabolism, Drug Delivery Systems / methods, Drug Stability, Humans, Liposomes / chemistry, Lysosomal Storage Diseases / complications, Lysosomal Storage Diseases / drug therapy, Lysosomal Storage Diseases / genetics, Lysosomal Storage Diseases / metabolism, Nanoparticles / chemistry, RNA Interference, RNA, Double-Stranded / metabolism, Small Interfering / administration & dosage, Small Interfering / metabolism

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/FCT/CEEC IND 2017/CEECIND%2F04242%2F2017%2FCP1390%2FCT0006/PT; International Journal of Molecular Sciences, vol.21(16):5732; https://www.mdpi.com/1422-0067/21/16/5732; https://hdl.handle.net/10216/143535

الاتاحة: https://hdl.handle.net/10216/143535
https://doi.org/10.3390/ijms21165732

المساهمون: Hasina, Zinnat (author.), Wang, Chi Chiu (thesis advisor.), Chinese University of Hong Kong Graduate School. Division of Obstetrics and Gynaecology. (degree granting institution.)

مصطلحات موضوعية: Down syndrome--Diagnosis, Down syndrome--Treatment, Central nervous system--Diseases--Pathogenesis, Down Syndrome--therapy, Central Nervous System Diseases--genetics, Central Nervous System Diseases--pathology

وصف الملف: electronic resource; remote; 1 online resource (xxxi, 163 leaves) : illustrations (some color); computer; online resource

الاتاحة: https://julac.hosted.exlibrisgroup.com/primo-explore/search?query=addsrcrid,exact,991040013867803407,AND&tab=default_tab&search_scope=All&vid=CUHK&mode=advanced&lang=en_US
https://repository.lib.cuhk.edu.hk/en/item/cuhk-2627993

المؤلفون: Douse, Christopher H, Bloor, Stuart, Liu, Yangci, Shamin, Maria, Tchasovnikarova, Iva A, Timms, Richard T, Lehner, Paul J, Modis, Yorgo

المصدر: Nature Communications. 9

مصطلحات موضوعية: Adenosine Triphosphatases/metabolism, Adenosine Triphosphate/metabolism, Animals, Charcot-Marie-Tooth Disease/genetics, Crystallography, X-Ray, DNA/metabolism, Epigenesis, Genetic, Gene Silencing, HEK293 Cells, HeLa Cells, Humans, Muscular Atrophy, Spinal, Mutation, Missense, Nervous System Diseases/genetics, Protein Binding, Protein Conformation, Protein Multimerization, Sf9 Cells, Transcription Factors/chemistry, Zinc Fingers

URL الوصول: https://lup.lub.lu.se/record/f798777e-6300-4be3-95d5-7bc0776d4b48
http://dx.doi.org/10.1038/s41467-018-03045-x

المؤلفون: Devanna, P, Chen, X S, Ho, J, Gajewski, D, Smith, S D, Gialluisi, A, Francks, C, Fisher, S E, Newbury, D F, Vernes, S C

المصدر: Devanna , P , Chen , X S , Ho , J , Gajewski , D , Smith , S D , Gialluisi , A , Francks , C , Fisher , S E , Newbury , D F & Vernes , S C 2018 , ' Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders ' , Molecular Psychiatry , vol. 23 , no. 5 , pp. 1375-1384 . https://doi.org/10.1038/mp.2017.30

مصطلحات موضوعية: 3' Untranslated Regions/genetics, Adult, Autistic disorder/genetics, Binding sites/genetics, Bipolar disorder/genetics, Child, Cohort studies, DNA, intergenic/genetics, Female, Gene expression regulation/genetics, Genetic predisposition to Disease, Genetic variation/genetics, Genomics, High-throughput nucleotide sequencing/methods, Humans, Language development disorders/genetics, Male, Mental disorders/genetics, microRNAs/genetics, Nervous system diseases/genetics, Neurodevelopmental disorders/genetics, Schizophrenia/genetics, Sequence analysis/methods

وصف الملف: application/pdf

الاتاحة: https://risweb.st-andrews.ac.uk/portal/en/researchoutput/nextgen-sequencing-identifies-noncoding-variation-disrupting-mirnabinding-sites-in-neurological-disorders(aa670f8e-f82e-4dc8-bea3-fc5c19946536).html
https://doi.org/10.1038/mp.2017.30
https://research-repository.st-andrews.ac.uk/bitstream/10023/21699/1/Devanna_2018_MolPsych_Next_gen_sequencing_CC.pdf

المؤلفون: Merienne, N., Vachey, G., de Longprez, L., Meunier, C., Zimmer, V., Perriard, G., Canales, M., Mathias, A., Herrgott, L., Beltraminelli, T., Maulet, A., Dequesne, T., Pythoud, C., Rey, M., Pellerin, L., Brouillet, E., Perrier, A.L., du Pasquier, R., Déglon, N.

المصدر: Cell reports, vol. 20, no. 12, pp. 2980-2991

مصطلحات موضوعية: Animals, Astrocytes/cytology, Astrocytes/metabolism, Base Sequence, CRISPR-Cas Systems/genetics, Cells, Cultured, Central Nervous System Diseases/genetics, Cerebral Cortex/cytology, Gene Editing, HEK293 Cells, Humans, Huntingtin Protein/genetics, Induced Pluripotent Stem Cells/cytology, Induced Pluripotent Stem Cells/metabolism, Kinetics, Mice, Neurons/cytology, Neurons/metabolism, CRISPR/Cas9, Huntington’s disease, KamiCas9, lentiviral vectors, neurodegenerative diseases, self-inactivating system

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/28930690; info:eu-repo/semantics/altIdentifier/eissn/2211-1247; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_18C9D3A78F115; https://serval.unil.ch/notice/serval:BIB_18C9D3A78F11; https://serval.unil.ch/resource/serval:BIB_18C9D3A78F11.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_18C9D3A78F11
https://doi.org/10.1016/j.celrep.2017.08.075
https://serval.unil.ch/resource/serval:BIB_18C9D3A78F11.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_18C9D3A78F115

المؤلفون: Tedeschi, Andrea, Omura, Takao, Costigan, Michael

المصدر: Experimental neurology 287(Pt 3), 409-422 (2017). doi:10.1016/j.expneurol.2016.05.004

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Axons: pathology, Axons: physiology, Central Nervous System Diseases: genetics, Central Nervous System Diseases: pathology, Central Nervous System Diseases: physiopathology, Genetic Variation: genetics, Humans, Nerve Regeneration: physiology, Signal Transduction: physiology

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0014-4886; info:eu-repo/semantics/altIdentifier/pmid/pmid:27163547; info:eu-repo/semantics/altIdentifier/issn/1090-2430; https://pub.dzne.de/record/138949; https://pub.dzne.de/search?p=id:%22DZNE-2020-05271%22

الاتاحة: https://pub.dzne.de/record/138949
https://pub.dzne.de/search?p=id:%22DZNE-2020-05271%22

المؤلفون: Traschuetz, Andreas, Wilke, Carlo, Haack, Tobias B, Bender, Benjamin, Group, RFC1 Study, Synofzik, Matthis

المصدر: Brain 145(3), e6 - e9 (2022). doi:10.1093/brain/awac003

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Bilateral Vestibulopathy, Cerebellar Ataxia, Humans, Peripheral Nervous System Diseases: genetics

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/pmid/pmid:35230382; https://pub.dzne.de/record/164074; https://pub.dzne.de/search?p=id:%22DZNE-2022-00737%22

الاتاحة: https://pub.dzne.de/record/164074
https://pub.dzne.de/search?p=id:%22DZNE-2022-00737%22

المؤلفون: Lindvall, Olle, Kokaia, Zaal

المصدر: Nature. 441(7097):1094-1096

مصطلحات موضوعية: Stem Cells: cytology, Stem Cell Transplantation, Regenerative Medicine: trends, Nervous System Diseases: therapy, Nervous System Diseases: pathology, Humans, Nervous System Diseases: genetics, Stem Cells: physiology, Tissue Therapy: trends, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi, Basic Medicine, Cell and Molecular Biology, Neurovetenskaper, Neurosciences

URL الوصول: https://lup.lub.lu.se/record/159314
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16810245&dopt=Abstract
http://dx.doi.org/10.1038/nature04960

المؤلفون: Hadar, Ravit, Edemann-Callesen, Henriette, Puls, Imke, Bader, Michael, Winter, Christine, Reinel, Claudia, Wieske, Franziska, Voget, Mareike, Popova, Elena, Sohr, Reinhard, Avchalumov, Yosef, Priller, Josef, van Riesen, Christoph

المصدر: Scientific reports 6(1), 39145 (2016). doi:10.1038/srep39145

مصطلحات موضوعية: info:eu-repo/classification/ddc/600, Animals, Disease Models, Animal, Dopamine Plasma Membrane Transport Proteins: genetics, Male, Mice, Microinjections, Nervous System Diseases: genetics, Nervous System Diseases: psychology, Rats, Transgenic, Up-Regulation, Dopamine Plasma Membrane Transport Proteins, Slc6a3 protein, mouse

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:27974817; info:eu-repo/semantics/altIdentifier/issn/2045-2322; https://pub.dzne.de/record/138931; https://pub.dzne.de/search?p=id:%22DZNE-2020-05253%22

الاتاحة: https://pub.dzne.de/record/138931
https://pub.dzne.de/search?p=id:%22DZNE-2020-05253%22

المؤلفون: Klingler, Esther, Francis, Fiona, Jabaudon, Denis, Cappello, Silvia

المصدر: ISSN: 0036-8075 ; Science, vol. 371, no. 6527 (2021) eaba4517.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, Cerebral Cortex / abnormalities, Gene Expression Regulation, Developmental, Humans, Mental Disorders / genetics, Mice, Nervous System Diseases / genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/33479124; https://archive-ouverte.unige.ch/unige:163389; unige:163389

الاتاحة: https://archive-ouverte.unige.ch/unige:163389

المؤلفون: Wilson, M.P., Garanto, A., Pinto E Vairo, F., Ng, B.G., Ranatunga, W.K., Ventouratou, M., Baerenfaenger, M., Huijben, K., Thiel, C., Ashikov, A., Keldermans, L., Souche, E., Vuillaumier-Barrot, S., Dupré, T., Michelakakis, H., Fiumara, A., Pitt, J., White, S.M., Lim, S.C., Gallacher, L., Peters, H., Rymen, D., Witters, P., Ribes, A., Morales-Romero, B., Rodríguez-Palmero, A., Ballhausen, D., de Lonlay, P., Barone, R., Janssen, MCH, Jaeken, J., Freeze, H.H., Matthijs, G., Morava, E., Lefeber, D.J.

المصدر: American journal of human genetics, vol. 108, no. 11, pp. 2130-2144

مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Catalytic Domain, Child, Preschool, Congenital Disorders of Glycosylation/genetics, Female, Genes, Dominant, Heterozygote, Hexosyltransferases/chemistry, Hexosyltransferases/genetics, Humans, Male, Membrane Proteins/chemistry, Membrane Proteins/genetics, Middle Aged, Musculoskeletal Diseases/genetics, Nervous System Diseases/genetics, Pedigree, Sequence Homology, Amino Acid, congenital disorders of glycosylation, dominant inheritance, glycosylation, oligosaccharyltransferase complex

Relation: info:eu-repo/semantics/altIdentifier/pmid/34653363; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_BF67CFA624BB

الاتاحة: https://serval.unil.ch/notice/serval:BIB_BF67CFA624BB
https://doi.org/10.1016/j.ajhg.2021.09.012

المؤلفون: Maria C. Pedroso de Lima, Liliana Mendonça, Sandra Alves, Liliana Matos, Maria Francisca Coutinho, Juliana Inês Santos, Maria João Prata, Amália S. Jurado

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 5732, p 5732 (2020)

مصطلحات موضوعية: Central Nervous System Diseases / metabolism, Small interfering RNA, Stable Nucleic Acid Lipid Particles (SNALPs), Lysosomal Storage Diseases / drug therapy, substrate reduction therapy (SRT), Review, RNA, Small Interfering / metabolism, lcsh:Chemistry, Drug Delivery Systems, Drug Stability, Central Nervous System Diseases, RNA interference, Lysosomal storage disease, RNA, Small Interfering, Receptor, lcsh:QH301-705.5, Spectroscopy, Lysosomal Storage Diseases / complications, Lysosomal Storage Diseases / genetics, Liposome, Chemistry, Brain, General Medicine, RNA, Small Interfering / administration & dosage, Computer Science Applications, Cell biology, RNA, Double-Stranded / metabolism, Brain / metabolism, Nanoparticles / chemistry, RNA Interference, Liposomes / chemistry, Substrate Reduction Therapy (SRT), RNA Interference (RNAi), RNA interference (RNAi), Central Nervous System Diseases / genetics, Stable nucleic acid lipid particle, Lysosomal Storage Diseases / metabolism, Catalysis, Inorganic Chemistry, Drug Delivery Systems / methods, medicine, Animals, Central Nervous System Diseases / drug therapy, Humans, Substrate reduction therapy, Physical and Theoretical Chemistry, Molecular Biology, RNA, Double-Stranded, Lysosomal Storage Diseases (LSDs), Organic Chemistry, lysosomal storage diseases (LSDs), siRNA nanodelivery systems, medicine.disease, siRNA Nanodelivery Systems, Neuropathy, Doenças Genéticas, stable nucleic acid lipid particles (SNALPs), Lysosomal Storage Diseases, lcsh:Biology (General), lcsh:QD1-999, Central Nervous System Diseases / complications, Liposomes, Nucleic acid, Nanoparticles, neuropathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a686a98e710a8a86dbce40343c85c24
https://hdl.handle.net/10400.18/7380