المؤلفون: Pettinato F., Mostile G., Battini R., Martinelli D., Madeo A., Biamino E., Frattini D., Garozzo D., Gasperini S., Parini R., Sirchia F., Sortino G., Sturiale L., Matthijs G., Morrone A., Di Rocco M., Rizzo R., Jaeken J., Fiumara A., Barone R.

المساهمون: Pettinato, F., Mostile, G., Battini, R., Martinelli, D., Madeo, A., Biamino, E., Frattini, D., Garozzo, D., Gasperini, S., Parini, R., Sirchia, F., Sortino, G., Sturiale, L., Matthijs, G., Morrone, A., Di Rocco, M., Rizzo, R., Jaeken, J., Fiumara, A., Barone, R.

مصطلحات موضوعية: Activities of daily living, Ataxia, Cerebellar atrophy, Congenital disorder(s) of glycosylation, PMM2 variant, Pons atrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/33619652; info:eu-repo/semantics/altIdentifier/wos/WOS:000620401900001; volume:20; issue:4; firstpage:596; lastpage:605; numberofpages:10; journal:CEREBELLUM; https://hdl.handle.net/11568/1116716; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101683015; https://link.springer.com/article/10.1007/s12311-021-01242-x

الاتاحة: https://hdl.handle.net/11568/1116716
https://doi.org/10.1007/s12311-021-01242-x
https://link.springer.com/article/10.1007/s12311-021-01242-x

المؤلفون: Bonaventura E., Barone R., Sturiale L., Pasquariello R., Alessandri M. G., Pinto A. M., Renieri A., Panteghini C., Garavaglia B., Cioni G., Battini R.

المساهمون: Bonaventura, E., Barone, R., Sturiale, L., Pasquariello, R., Alessandri, M. G., Pinto, A. M., Renieri, A., Panteghini, C., Garavaglia, B., Cioni, G., Battini, R.

مصطلحات موضوعية: Congenital disorder of glycosylation (CDG), Leigh syndrome-like, MALDI-MS, Movement disorder, Serum N-glycomic, SLC39A8, Glycosylation, Human, Manganese, Polysaccharide, Congenital Disorders of Glycosylation, Leigh Disease

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34246313; info:eu-repo/semantics/altIdentifier/wos/WOS:000671625300001; volume:2021; issue:16; firstpage:1; lastpage:14; numberofpages:14; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11568/1116284; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85109587757

الاتاحة: http://hdl.handle.net/11568/1116284
https://doi.org/10.1186/s13023-021-01941-y

المؤلفون: Cutaia G., la Tona G., Comelli A., Vernuccio F., Agnello F., Gagliardo C., Salvaggio L., Quartuccio N., Sturiale L., Stefano A., Calamia M., Arnone G., Midiri M., Salvaggio G.

المساهمون: Cutaia G., la Tona G., Comelli A., Vernuccio F., Agnello F., Gagliardo C., Salvaggio L., Quartuccio N., Sturiale L., Stefano A., Calamia M., Arnone G., Midiri M., Salvaggio G.

مصطلحات موضوعية: Artificial intelligence, Prostate cancer, Gleason score, Local, Multiparametric magnetic resonance imaging, Neoplasm recurrence

Relation: info:eu-repo/semantics/altIdentifier/pmid/34460633; info:eu-repo/semantics/altIdentifier/wos/WOS:000622625000001; volume:7; issue:2; firstpage:1; lastpage:13; numberofpages:13; journal:JOURNAL OF IMAGING; http://hdl.handle.net/10447/512057

الاتاحة: http://hdl.handle.net/10447/512057
https://doi.org/10.3390/jimaging7020034

المؤلفون: Shimoyama A., Di Lorenzo F., Yamaura H., Mizote K., Palmigiano A., Pither M. D., Speciale I., Uto T., Masui S., Sturiale L., Garozzo D., Hosomi K., Shibata N., Kabayama K., Fujimoto Y., Silipo A., Kunisawa J., Kiyono H., Molinaro A., Fukase K.

المساهمون: Shimoyama, A., Di Lorenzo, F., Yamaura, H., Mizote, K., Palmigiano, A., Pither, M. D., Speciale, I., Uto, T., Masui, S., Sturiale, L., Garozzo, D., Hosomi, K., Shibata, N., Kabayama, K., Fujimoto, Y., Silipo, A., Kunisawa, J., Kiyono, H., Molinaro, A., Fukase, K.

مصطلحات موضوعية: glycolipid, lipid A, lipopolysaccharide, oligosaccharide, vaccines

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000631857000001; volume:60; issue:18; firstpage:10023; lastpage:10031; numberofpages:9; journal:ANGEWANDTE CHEMIE. INTERNATIONAL EDITION; http://hdl.handle.net/11588/853764; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102803987

الاتاحة: http://hdl.handle.net/11588/853764
https://doi.org/10.1002/anie.202012374

المؤلفون: Quelhas, D, Correia, J, Jaeken, J, Azevedo, L, Lopes-Marques, M, Bandeira, A, Keldermans, L, Matthijs, G, Sturiale, L, Martins, E

المساهمون: Instituto de Investigação e Inovação em Saúde

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID%2FMulti%2F00215%2F2013/PT; Molecular Genetics and Metabolism Reports, vol.26:100717; https://www.sciencedirect.com/science/article/pii/S2214426921000112?via%3Dihub; https://hdl.handle.net/10216/150448

الاتاحة: https://hdl.handle.net/10216/150448
https://doi.org/10.1016/j.ymgmr.2021.100717

المؤلفون: Quartuccio N., Agugliaro F., Alongi P., Sturiale L., Arnone G., Corrao S.

المساهمون: Quartuccio N., Agugliaro F., Alongi P., Sturiale L., Arnone G., Corrao S.

مصطلحات موضوعية: Magnetic resonance imaging, lymphoscintigraphy, lymphedema, systematic review, limbs, lymphatic fluid

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001002899600005; volume:19; issue:5; firstpage:469; lastpage:475; numberofpages:7; journal:CURRENT MEDICAL IMAGING REVIEWS; https://hdl.handle.net/10447/620481

الاتاحة: https://hdl.handle.net/10447/620481
https://doi.org/10.2174/1573405618666220525141721

المؤلفون: Da Silva, Afitz, Dort, J., Orfi, Z., Pan, X., Huang, S.J., Kho, I., Heckel, E., Muscarnera, G., Vliet, P.P. van, Sturiale, L., Messina, A., Romeo, D.A., Karnebeek, C.D.M. van, Wen, X.Y., Hinek, A., Molina, T., Andelfinger, G., Ellezam, B., Yamanaka, Y., Olivos, H.J., Morales, C.R., Joyal, J.S., Lefeber, D.J., Garozzo, D., Dumont, N.A., Pshezhetsky, A.V.

المصدر: Science Advances; 2375-2548; 26; 9; eade6308; ~Science Advances~~~~~2375-2548~26~9~~eade6308

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/294352/294352.pdf
https://repository.ubn.ru.nl/handle/2066/294352

المؤلفون: Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., Mcdonald, K., Baker, J., Bhambhani, V., Powis, Z., Rodan, L., Nabbout, R., Barcia, G., Rosenfeld, J. A., Bacino, C. A., Mignot, C., Power, L. H., Harris, C. J., Marjanovic, D., Møller, R. S., Hammer, T. B., Keski Filppula, R., Vieira, P., Hildebrandt, C., Sacharow, S., Maragliano, L., Benfenati, F., Lachlan, K., Benneche, A., Petit, Florence, De Sainte Agathe, J. M., Hallinan, B., Si, Y., Wentzensen, I. M., Zou, F., Narayanan, V., Matsumoto, N., Boncristiano, A., La Marca, G., Kato, M., Anderson, K., Barba, C., Sturiale, L., Garozzo, D., Bei, R., Masuelli, L., Conti, V., Novarino, G., Fassio, A.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay

وصف الملف: application/octet-stream

Relation: Brain; http://hdl.handle.net/20.500.12210/84149

الاتاحة: https://hdl.handle.net/20.500.12210/84149

المؤلفون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, MK, Von Allmen, G, Cho, MT, McDonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, JA, Bacino, CA, Mignot, C, Power, LH, Harris, CJ, Marjanovic, D, Moller, RS, Hammer, TB, Filppula, RK, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, JM, Hallinan, B, Si, Y, Wentzensen, IM, Zou, FG, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A

المساهمون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, M, Von Allmen, G, Cho, M, Mcdonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, J, Bacino, C, Mignot, C, Power, L, Harris, C, Marjanovic, D, Moller, R, Hammer, T, Filppula, R, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, J, Hallinan, B, Si, Y, Wentzensen, I, Zou, F, Narayanan, V, Matsumoto, N, Boncristiano, A, la Marca, G, Kato, M, Anderson, K, Barba, C, Sturiale, L, Garozzo, D, Bei, R, Masuelli, L, Conti, V, Novarino, G, Fassio, A

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay, Adenosine Triphosphate, Atrophy, Child, Homeostasis, Humans, Infant, Lysosomes, Phenotype, Brain Diseases, Epilepsy, Intellectual Disability, Spasms, Infantile, Vacuolar Proton-Translocating ATPases, Settore MED/04 - PATOLOGIA GENERALE, Settore MED/26 - NEUROLOGIA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; volume:145; issue:8; firstpage:2687; lastpage:2703; numberofpages:17; journal:BRAIN; https://hdl.handle.net/2108/308735; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142145538

الاتاحة: https://hdl.handle.net/2108/308735
https://doi.org/10.1093/brain/awac145

المؤلفون: Caobelli F, Evangelista L, Quartuccio N, Familiari D, Altini C, Castello A, Cucinotta M, Di Dato R, Ferrari C, Kokomani A, Laghai I, Laudicella R, Migliari S, Orsini F, Pignata SA, Popescu C, Puta E, Ricci M, Seghezzi S, Sindoni A, Sollini M, Sturiale L, Svyridenka A, Vergura V, Alongi P, Young Aimn Working Group

المساهمون: Caobelli, F, Evangelista, L, Quartuccio, N, Familiari, D, Altini, C, Castello, A, Cucinotta, M, Di Dato, R, Ferrari, C, Kokomani, A, Laghai, I, Laudicella, R, Migliari, S, Orsini, F, Pignata, Sa, Popescu, C, Puta, E, Ricci, M, Seghezzi, S, Sindoni, A, Sollini, M, Sturiale, L, Svyridenka, A, Vergura, V, Alongi, P, Young Aimn Working, Group

وصف الملف: ELETTRONICO

Relation: volume:8; issue:10; firstpage:829; lastpage:845; numberofpages:17; journal:WORLD JOURNAL OF RADIOLOGY; http://hdl.handle.net/11577/3312605

الاتاحة: http://hdl.handle.net/11577/3312605

المؤلفون: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

مصطلحات موضوعية: developmental delay, epileptic encephalopathy, lysosomal disorder, ATP6V1A, progressive brain atrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2423::3d87197087e6ddb6b11e6edcbbf5ae62
http://urn.fi/urn:nbn:fi-fe2023022728799

المؤلفون: Quartuccio N., Marrale M., Laudicella R., Alongi P., Siracusa M., Sturiale L., Arnone G., Cutaia G., Salvaggio G., Midiri M., Baldari S.

المساهمون: Quartuccio N., Marrale M., Laudicella R., Alongi P., Siracusa M., Sturiale L., Arnone G., Cutaia G., Salvaggio G., Midiri M., Baldari S.

مصطلحات موضوعية: Deep learning, Machine learning, Positron emission tomography, Prostate cancer, Radiomics

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000653633400001; numberofpages:10; journal:CLINICAL AND TRANSLATIONAL IMAGING; http://hdl.handle.net/10447/515637

الاتاحة: http://hdl.handle.net/10447/515637
https://doi.org/10.1007/s40336-021-00436-x

المؤلفون: Quartuccio N., Panareo S., Urso L., Sturiale L., Siracusa M., Arnone A., Alongi P., Baldari S., Bartolomei M., Arnone G.

المساهمون: Quartuccio, N., Panareo, S., Urso, L., Sturiale, L., Siracusa, M., Arnone, A., Alongi, P., Baldari, S., Bartolomei, M., Arnone, G.

Relation: info:eu-repo/semantics/altIdentifier/pmid/33252511; volume:42; issue:2; firstpage:198; lastpage:204; numberofpages:7; journal:NUCLEAR MEDICINE COMMUNICATIONS; http://hdl.handle.net/11570/3193919; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100069906

الاتاحة: http://hdl.handle.net/11570/3193919
https://doi.org/10.1097/MNM.0000000000001321

المؤلفون: Messina A., Palmigiano A., Tosto C., Romeo D. A., Sturiale L., Garozzo D., Leonardi A.

المساهمون: Messina, A., Palmigiano, A., Tosto, C., Romeo, D. A., Sturiale, L., Garozzo, D., Leonardi, A.

مصطلحات موضوعية: atopic keratoconjunctiviti, glycomic, mass spectrometry, tear, vernal keratocojunctivitis

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33583051; info:eu-repo/semantics/altIdentifier/wos/WOS:000628833500001; journal:ALLERGY; https://hdl.handle.net/11577/3387751; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102425742

الاتاحة: https://hdl.handle.net/11577/3387751
https://doi.org/10.1111/all.14775

المؤلفون: Zeevaert, R., de Zegher, F., Sturiale, L., Garozzo, D., Smet, M., Moens, M., Matthijs, G., Jaeken, J.

المصدر: JIMD Reports ; JIMD Reports - Case and Research Reports, 2012/5 ; page 145-152 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642334320 9783642334337

الاتاحة: http://dx.doi.org/10.1007/8904_2012_172
http://link.springer.com/content/pdf/10.1007/8904_2012_172

المؤلفون: Rymen, D, Peanne, R, Millón, MB, Race, V, Sturiale, L, Garozzo, D, Mills, P, Clayton, P, Asteggiano, CG, Quelhas, D, Cansu, A, Martins, E, Nassogne, MC, Gonçalves-Rocha, M, Topaloglu, H, Jaeken, J, Foulquier, F, Matthijs, G

المصدر: PLoS Genetics , 9 (12) , Article e1003989. (2013)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1421754/1/journal.pgen.1003989.pdf; https://discovery.ucl.ac.uk/id/eprint/1421754/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1421754/1/journal.pgen.1003989.pdf
https://discovery.ucl.ac.uk/id/eprint/1421754/

المؤلفون: Rymen, D., Peanne, R., Millón, M., Race, V., Sturiale, L., Garozzo, D., Mills, P., Clayton, P., Asteggiano, C., Quelhas, D., Cansu, A., Martins, E., Nassogne, M., Gonc¸alves-Rocha, M., Topaloglu, H., Jaeken, J., Foulquier, F., Matthijs, G.

Relation: http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003989; MAN1B1 Deficiency: An Unexpected CDG-II. PLoS Genet 9(12): e1003989. doi:10.1371/journal.pgen.1003989; http://hdl.handle.net/10400.16/1695

الاتاحة: http://hdl.handle.net/10400.16/1695
https://doi.org/10.1371/journal.pgen.1003989

المؤلفون: Ierano, T., Silipo, A., Nazarenko, E. L., Gorshkova, R. P., Ivanova, E. P., Garozzo, D., Sturiale, L., Lanzetta, R., Parrilli, M., Molinaro, A.

مصطلحات موضوعية: Biochemistry

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/174642

الاتاحة: https://www.openaccessrepository.it/record/174642
https://doi.org/10.1093/glycob/cwq008

المؤلفون: Ierano, T., Silipo, A., Sturiale, L., Garozzo, D., Bryant, C., Lanzetta, R., Parrilli, M., Aldridge, C., Gould, F K., Corris, P. A, Khan, C M A., De Soyza, A., Molinaro, A.

المصدر: Glycobiology ; volume 19, issue 11, page 1214-1223 ; ISSN 0959-6658 1460-2423

مصطلحات موضوعية: Biochemistry

الاتاحة: http://dx.doi.org/10.1093/glycob/cwp112
http://academic.oup.com/glycob/article-pdf/19/11/1214/5857515/cwp112.pdf

المؤلفون: De Benedetto G., Micoli F., Londero S., Salvini L., Sturiale L., Garozzo D., Ravenscroft N., Giannelli C., Cescutti P.

المساهمون: De Benedetto, G., Micoli, F., Londero, S., Salvini, L., Sturiale, L., Garozzo, D., Ravenscroft, N., Giannelli, C., Cescutti, P.

مصطلحات موضوعية: Core, Kdo, MS, NMR, O-antigen, Salmonella, O Antigen, Oxidation-Reduction, Salmonella typhimurium, Sugar Acid, Vaccines, Conjugate

Relation: info:eu-repo/semantics/altIdentifier/pmid/31228656; info:eu-repo/semantics/altIdentifier/wos/WOS:000475558200007; volume:481; firstpage:43; lastpage:51; numberofpages:9; journal:CARBOHYDRATE RESEARCH; http://hdl.handle.net/11368/2958211; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067460281; https://www.sciencedirect.com/science/article/pii/S0008621519302046

الاتاحة: http://hdl.handle.net/11368/2958211
https://doi.org/10.1016/j.carres.2019.05.014
https://www.sciencedirect.com/science/article/pii/S0008621519302046