المؤلفون: Luthi-Carter, R, Cappelli, S, Le Roux-Bourdieu, M, Tentillier, N, Quinn, JP, Petrozziello, T, Gopalakrishnan, L, Sethi, P, Choudhary, H, Bartolini, G, Gebara, E, Stuani, C, Font, L, An, J, Ortega, V, Sage, J, Kosa, E, Trombetta, BA, Simeone, R, Seredenina, T, Afroz, T, Berry, JD, Arnold, SE, Carlyle, BC

Relation: https://ora.ox.ac.uk/objects/uuid:d2bbf4e8-2b14-4276-a0cf-2c46d0dbbd73; https://doi.org/10.1038/s41598-024-70822-8

الاتاحة: https://doi.org/10.1038/s41598-024-70822-8
https://ora.ox.ac.uk/objects/uuid:d2bbf4e8-2b14-4276-a0cf-2c46d0dbbd73

المؤلفون: Buratti E., Peruzzo P., Braga L., Zanin I., Stuani C., Goina E., Romano M., Giacca M., Dardis A.

المساهمون: Buratti, E., Peruzzo, P., Braga, L., Zanin, I., Stuani, C., Goina, E., Romano, M., Giacca, M., Dardis, A.

مصطلحات موضوعية: deferoxamine, GAA, glycogenosis type 2, Pompe disease, pre-mRNA splicing reporter

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33426149; info:eu-repo/semantics/altIdentifier/wos/WOS:000629246400019; volume:20; firstpage:227; lastpage:236; numberofpages:10; journal:MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT; http://hdl.handle.net/11368/2977767; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85098653916; https://www.sciencedirect.com/science/article/pii/S2329050120302382?via=ihub

الاتاحة: http://hdl.handle.net/11368/2977767
https://doi.org/10.1016/j.omtm.2020.11.011
https://www.sciencedirect.com/science/article/pii/S2329050120302382?via=ihub

المؤلفون: Pantoja-Uceda, D., Stuani, C., Laurents, D.V., McDermott, A.E., Buratti, E., Mompeán, Miguel

المساهمون: Ministerio de Economía y Competitividad (España), National Science Foundation (US), Fundación Caixa Galicia, Consejo Superior de Investigaciones Científicas (España)

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/CTQ2017-84371-P; info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2016-76678-C2-2-R; Publisher's version; http://dx.doi.org/10.1371/journal.pbio.3001198; Sí; PLoS Biology 19 (2021); http://hdl.handle.net/10261/253574; http://dx.doi.org/10.13039/501100003339; http://dx.doi.org/10.13039/501100003329; http://dx.doi.org/10.13039/100000001

الاتاحة: http://hdl.handle.net/10261/253574
https://doi.org/10.1371/journal.pbio.3001198
https://doi.org/10.13039/501100003339
https://doi.org/10.13039/501100003329
https://doi.org/10.13039/100000001

المؤلفون: Appocher, C., Mohagheghi, F., Cappelli, S., Stuani, C., Romano, M., Feiguin, F., Buratti, E.

المساهمون: Appocher, C., Mohagheghi, F., Cappelli, S., Stuani, C., Romano, M., Feiguin, F., Buratti, E.

مصطلحات موضوعية: Amyotrophic Lateral Sclerosi, Animal, Animals, Genetically Modified, Cell Line, DNA-Binding Protein, Drosophila Protein, Drosophila melanogaster, Eye, Gene Knockdown Technique, HeLa Cell, Heterogeneous-Nuclear Ribonucleoprotein, Human, Neuron, RNA Splicing, RNA, Messenger, RNA-Binding Proteins

Relation: info:eu-repo/semantics/altIdentifier/pmid/28575377; info:eu-repo/semantics/altIdentifier/wos/WOS:000406776400048; volume:45; issue:13; firstpage:8026; lastpage:8045; numberofpages:20; journal:NUCLEIC ACIDS RESEARCH; http://hdl.handle.net/11584/322743; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026475064

الاتاحة: http://hdl.handle.net/11584/322743
https://doi.org/10.1093/nar/gkx477

المؤلفون: Borroni, B., Stanic, J., Verpelli, C., Mellone, M., Bonomi, E., Alberici, A., Bernasconi, P., Culotta, L., Zianni, E., Archetti, S., Manes, M., Gazzina, S., Ghidoni, R., Benussi, L., Stuani, C., Di Luca, M., Sala, C., Buratti, E., Padovani, A., Gardoni, F.

المصدر: Scientific Reports ; volume 8, issue 1 ; ISSN 2045-2322

الاتاحة: https://doi.org/10.1038/s41598-017-18750-8
https://www.nature.com/articles/s41598-017-18750-8.pdf
https://www.nature.com/articles/s41598-017-18750-8

المؤلفون: Borroni, B., Stanic, J., Verpelli, C., Mellone, M., Bonomi, E., Alberici, A., Bernasconi, P., Culotta, L., Zianni, E., Archetti, S., Manes, M., Gazzina, S., Ghidoni, R., Benussi, L., Stuani, C., Di Luca, M., Sala, C., Buratti, E., Padovani, A., Gardoni, F.

المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-017-06117-y
https://www.nature.com/articles/s41598-017-06117-y
https://www.nature.com/articles/s41598-017-06117-y.pdf

المؤلفون: Romano, M., Buratti, E., Romano, G., Klima, R., Del Bel Belluz, L., Stuani, C., Baralle, F., Feiguin, F.

المساهمون: Romano, M., Buratti, E., Romano, G., Klima, R., Del Bel Belluz, L., Stuani, C., Baralle, F., Feiguin, F.

مصطلحات موضوعية: Drosophila, Neuroscience, Retinal Degeneration, RNA Splicing, RNA-binding Protein, Hrb98DE, Hrp38, hnRNP A, TDP-43, TBPH

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000332389400071; volume:289; issue:10; firstpage:7121; lastpage:7130; numberofpages:10; journal:THE JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/11584/322691; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84896771214

الاتاحة: http://hdl.handle.net/11584/322691
https://doi.org/10.1074/jbc.M114.548859

المؤلفون: Dardis, A., Zampieri, S., Newell, K.L., Stuani, C., Murrell, J.R., Ghetti, B., Fiorenza, M.T., Bembi, B., Buratti, E.

المساهمون: Department of Pathology and Laboratory Medicine, IU School of Medicine

المصدر: PMC

مصطلحات موضوعية: Niemann Pick C, TDP-43, Lysosomal diseases, NPC1

وصف الملف: application/pdf

Relation: Acta Neuropathologica Communications; Dardis, A., Zampieri, S., Canterini, S., Newell, K. L., Stuani, C., Murrell, J. R., … Buratti, E. (2016). Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. Acta Neuropathologica Communications, 4, 52. http://doi.org/10.1186/s40478-016-0325-4; https://hdl.handle.net/1805/13475

الاتاحة: https://hdl.handle.net/1805/13475

المؤلفون: Mompeán, Miguel, Pantoja-Uceda, D., Laurents, D.V., Romano, V., Stuani, C., Baralle, F.E., Buratti, E.

المساهمون: Ministerio de Economía y Competitividad (España)

مصطلحات موضوعية: ALS/FTLD, hydrogen/deuterium exchange, protein dynamics, protein structure, TAR, DNA-binding protein 43 (TDP-43)

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2013-49179- C2-2-R; Publisher's version; https://doi.org/10.1111/febs.13651; Sí; The FEBS journal, 1 April 2016, 283(7):1242-1260; http://hdl.handle.net/10261/162654; http://dx.doi.org/10.13039/501100003329

الاتاحة: http://hdl.handle.net/10261/162654
https://doi.org/10.13039/501100003329

المؤلفون: BORRONI, Barbara, PAPETTI, Alice, GENNARELLI, Massimo, PADOVANI, Alessandro, Bonvicini, C, Alberici, A, Buratti, E, Agosti, C, Archetti, S, Stuani, C, Di Luca, M

المساهمون: Borroni Barbara, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti Alice, Stuani C, Di Luca M, Gennarelli Massimo, Padovani Alessandro

مصطلحات موضوعية: TARDBP, Fronto Temporal Dementia, Genetic

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000279980700002; firstpage:974; lastpage:983; numberofpages:10; journal:HUMAN MUTATION; http://hdl.handle.net/11379/8616; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70350721803

الاتاحة: http://hdl.handle.net/11379/8616

المؤلفون: Dardis, A., Zanin, I., Zampieri, S., Stuani, C., Pianta, A., Romanello, M., Baralle, F. E., Bembi, B., Buratti, E.

المصدر: Nucleic Acids Research ; volume 42, issue 2, page 1291-1302 ; ISSN 0305-1048 1362-4962

الاتاحة: http://dx.doi.org/10.1093/nar/gkt987
http://academic.oup.com/nar/article-pdf/42/2/1291/7703400/gkt987.pdf

المؤلفون: Hirschfeld, M., Jaeger, M., Buratti, E., Stuani, C., Grueneisen, J., Gitsch, G., Stickeler, E.

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/193862

الاتاحة: https://www.openaccessrepository.it/record/193862
https://doi.org/10.1093/hmg/ddr128

المؤلفون: D'Ambrogio, A., Buratti, E., Stuani, C., Guarnaccia, C., Romano, M., Ayala, Y. M., Baralle, F. E.

المصدر: Nucleic Acids Research ; volume 37, issue 12, page 4116-4126 ; ISSN 0305-1048 1362-4962

الاتاحة: http://dx.doi.org/10.1093/nar/gkp342
http://academic.oup.com/nar/article-pdf/37/12/4116/3568255/gkp342.pdf

المؤلفون: Cortese A., Laura M., Casali C., Nishino I., Hayashi Y. K., Magri S., Taroni F., Stuani C., Saveri P., Moggio M., Ripolone M., Prelle A., Pisciotta C., Sagnelli A., Pichiecchio A., Reilly M. M., Buratti E., Pareyson D.

المساهمون: Cortese, A., Laura, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E., Pareyson, D.

مصطلحات موضوعية: distal hereditary motor neuropathy, HSPB8, myofibrillar myopathy, RNA metabolism, TDP-43, Adult, Age of Onset, Alternative Splicing, Biopsy, DNA-Binding Protein, Disease Progression, Female, Heat-Shock Protein, Hereditary Sensory and Motor Neuropathy, Human, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal, Neural Conduction, Pedigree, Protein-Serine-Threonine Kinase, RNA, TDP-43 Proteinopathies

Relation: info:eu-repo/semantics/altIdentifier/pmid/29029362; info:eu-repo/semantics/altIdentifier/wos/WOS:000418673400026; volume:25; issue:1; firstpage:154; lastpage:163; numberofpages:10; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/11571/1348613; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85038912736

الاتاحة: http://hdl.handle.net/11571/1348613
https://doi.org/10.1111/ene.13478

المؤلفون: Pagani, F, Garcia, R, Pariyarath, R, Stuani, C, Gridelli, B, Paone, G, Baralle, FE

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/5/10/1611; http://dx.doi.org/10.1093/hmg/5.10.1611

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/5/10/1611
https://doi.org/10.1093/hmg/5.10.1611

المؤلفون: Newell, K., Paron, F., Mompeán, Miguel, Murrell, J., Salis, E., Stuani, C., Pattee, G., Romano, M., Laurents, D.V., Ghetti, B., Buratti, E.

المساهمون: Ministero degli Affari Esteri e della Cooperazione Internazionale

مصطلحات موضوعية: ALS, FTLD, mRNA splicing, Neurodegeneration, Phosphorylation, TARDBP mutations, TDP-43 mutations

Relation: Postprint; http://dx.doi.org/10.1111/bpa.12680; Sí; Brain Pathology 29: 397-413 (2019); http://hdl.handle.net/10261/206093; http://dx.doi.org/10.13039/501100006601

الاتاحة: http://hdl.handle.net/10261/206093
https://doi.org/10.1111/bpa.12680
https://doi.org/10.13039/501100006601

المؤلفون: Laurents, D.V., Mompeán, M., Romano, V., Stuani, C., Pantoja-Uceda, D., Baralle, F., Buratti, E.

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dfff97552ea1b5978ed6469b368916a2
http://hdl.handle.net/10261/269692

المؤلفون: Mompeán, Miguel, Romano, V., Pantoja-Uceda, D., Stuani, C., Baralle, F.E., Buratti, E., Laurents, D.V.

Relation: Sí; Journal of Biological Chemistry 292: 11992- 12006 (2017); http://hdl.handle.net/10261/165584

الاتاحة: http://hdl.handle.net/10261/165584
https://doi.org/10.1074/jbc.M117.775965

المؤلفون: BURATTI, EMANUELE, ROMANO, MAURIZIO, De Conti L., Stuani C., Baralle M., Baralle F.

المساهمون: Buratti, Emanuele, De Conti, L., Stuani, C., Romano, Maurizio, Baralle, M., Baralle, F.

مصطلحات موضوعية: FTLD, TDP-43, Amyotrophic Lateral Sclerosi, let-7b, microRNA, miR-663

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/20423455; info:eu-repo/semantics/altIdentifier/wos/WOS:000277084600008; volume:277(10); issue:10; firstpage:2268; lastpage:2281; journal:THE FEBS JOURNAL; http://hdl.handle.net/11368/2296939; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951700391; http://www3.interscience.wiley.com/journal/123341439/abstract?CRETRY=1&SRETRY=0; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20423455

الاتاحة: http://hdl.handle.net/11368/2296939
https://doi.org/10.1111/j.1742-4658.2010.07643.x
http://www3.interscience.wiley.com/journal/123341439/abstract?CRETRY=1&SRETRY=0
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20423455

المؤلفون: Mompeán, Miguel, Romano, V., Pantoja-Uceda, D., Stuani, C., Baralle, F.E., Buratti, E., Laurents, D.V.

Relation: Sí; FEBS Journal 283: 1242- 1260 (2015); http://hdl.handle.net/10261/141989

الاتاحة: http://hdl.handle.net/10261/141989
https://doi.org/10.1111/febs.13651