المؤلفون: Salpietro V., Maroofian R., Zaki M. S., Wangen J., Ciolfi A., Barresi S., Efthymiou S., Lamaze A., Aughey G. N., Al Mutairi F., Rad A., Rocca C., Cali E., Accogli A., Zara F., Striano P., Mojarrad M., Tariq H., Giacopuzzi E., Taylor J. C., Oprea G., Skrahina V., Rehman K. U., Abd Elmaksoud M., Bassiony M., El Said H. G., Abdel-Hamid M. S., Al Shalan M., Seo G., Kim S., Lee H., Khang R., Issa M. Y., Elbendary H. M., Rafat K., Marinakis N. M., Traeger-Synodinos J., Ververi A., Sourmpi M., Eslahi A., Khadivi Zand F., Beiraghi Toosi M., Babaei M., Jackson A., Hannah M. G., Bugiardini E., Bertini E., Kriouile Y., El-Khorassani M., Aguennouz M., Groppa S., Karashova B. M., Goraya J. S., Sultan T., Avdjieva D., Kathom H., Tincheva R., Banu S., Veggiotti P., Verrotti A., Lanari M., Savasta S., Macaya A., Garavaglia B., Borgione E., Papacostas S., Vikelis M., Chelban V., Kaiyrzhanov R., Cortese A., Sullivan R., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Zuccotti G. V., Marseglia G. L., Esposito S., Shaikh F., Cogo P., Corsello G., Mangano S., Nardello R., Mangano D., Scardamaglia A., Koutsis G., Scuderi C., Ferrara P., Morello G., Zollo M., Berni-Canani R., Terracciano L. M., Sisto A., Di Fabio S., Strano F., Scorrano G., Di Bella S., Di Francesco L., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Xiromerisiou G., Spanaki C., Fiorillo C., Iacomino M., Gaudio E., Munell F., Gagliano A., Jan F., Chimenz R., Gitto E., Iughetti L., Di Rosa G., Maghnie M., Pettoello-Mantovani M., Gupta N., Kabra M., Benrhouma H., Tazir M., Bottone G., Farello G., Delvecchio M., Di-Donato G., Obeid M., Bakhtadze S., Saadi N. W., Miraglia-Del-Giudice M., Maccarone R., Triki C. C., Kara M., Karimiani E. G., Salih A. M., Ramenghi L. A., Seri M., Di-Falco G., Mandara L., Barrano G., Elisa M., Cherubini E., Operto F. F., Valenzise M., Cattaneo A., Zazzeroni F., Alesse E., Matricardi S., Zafar F., Ullah E., Afzal E., Rahman F., Ahmed M. M., Parisi P., Spalice A., De Filippo M., Licari A., Trebbi E., Romano F., Heimer G., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Rizig M., Shashkin C., Zharkynbekova N., Koneyev K., Bertoli-Avella A., Pagnamenta A. T., Niceta M., Battini R., Corsello A., Leoni C., Chiarelli F., Dallapiccola B., Faqeih E. A., Tallur K. K., Alfadhel M., Alobeid E., Maddirevula S., Mankad K., Banka S., Ghayoor-Karimiani E., Tartaglia M., Chung W. K., Green R., Jepson J. E. C., Houlden H.

المساهمون: Salpietro, V., Maroofian, R., Zaki, M. S., Wangen, J., Ciolfi, A., Barresi, S., Efthymiou, S., Lamaze, A., Aughey, G. N., Al Mutairi, F., Rad, A., Rocca, C., Cali, E., Accogli, A., Zara, F., Striano, P., Mojarrad, M., Tariq, H., Giacopuzzi, E., Taylor, J. C., Oprea, G., Skrahina, V., Rehman, K. U., Abd Elmaksoud, M., Bassiony, M., El Said, H. G., Abdel-Hamid, M. S., Al Shalan, M., Seo, G., Kim, S., Lee, H., Khang, R., Issa, M. Y., Elbendary, H. M., Rafat, K., Marinakis, N. M., Traeger-Synodinos, J., Ververi, A., Sourmpi, M., Eslahi, A., Khadivi Zand, F., Beiraghi Toosi, M., Babaei, M., Jackson, A., Hannah, M. G., Bugiardini, E., Bertini, E., Kriouile, Y., El-Khorassani, M., Aguennouz, M., Groppa, S., Karashova, B. M., Goraya, J. S., Sultan, T., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Veggiotti, P., Verrotti, A., Lanari, M., Savasta, S., Macaya, A., Garavaglia, B., Borgione, E., Papacostas, S., Vikelis, M., Chelban, V., Kaiyrzhanov, R., Cortese, A., Sullivan, R., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Zuccotti, G. V., Marseglia, G. L., Esposito, S., Shaikh, F., Cogo, P., Corsello, G., Mangano, S., Nardello, R., Mangano, D., Scardamaglia, A., Koutsis, G., Scuderi, C., Ferrara, P., Morello, G., Zollo, M., Berni-Canani, R., Terracciano, L. M., Sisto, A., Di Fabio, S., Strano, F., Scorrano, G.

مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; issue:1; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1700551Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.11.012Test
https://hdl.handle.net/11573/1700551Test

المؤلفون: Danielsson, A, Carecchio, M, Cif, L, Koy, A, Lin, JP, Solders, G, Romito, L, Lohmann, K, Garavaglia, B, Reale, C, Zorzi, G, Nardocci, N, Coubes, P, Gonzalez, V, Roubertie, A, Collod-Beroud, G, Lind, G, Tedroff, K

المصدر: Journal of clinical medicine. 8(12)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142711185Test

المؤلفون: Di Fonzo A., Percetti M., Monfrini E., Palmieri I., Albanese A., Avenali M., Bartoletti-Stella A., Blandini F., Brescia G., Calandra Buonaura G., Campopiano R., Capellari S., Colangelo I., Comi G. P., Cuconato G., Ferese R., Galandra C., Gambardella S., Garavaglia B., Gaudio A., Giardina E., Invernizzi F., Mandich P., Mineri R., Panteghini C., Reale C., Trevisan L., Zampatti S., Cortelli P., Valente E. M., PARKNET study group, Baldelli L., Carelli V., Giannini G.

المساهمون: Di Fonzo A., Percetti M., Monfrini E., Palmieri I., Albanese A., Avenali M., Bartoletti-Stella A., Blandini F., Brescia G., Calandra Buonaura G., Campopiano R., Capellari S., Colangelo I., Comi G.P., Cuconato G., Ferese R., Galandra C., Gambardella S., Garavaglia B., Gaudio A., Giardina E., Invernizzi F., Mandich P., Mineri R., Panteghini C., Reale C., Trevisan L., Zampatti S., Cortelli P., Valente E.M., PARKNET study group, Baldelli L., Carelli V., Giannini G.

مصطلحات موضوعية: EOPD, gene panel, next-generation sequencing, Parkinson's disease, variant classification

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37750340; info:eu-repo/semantics/altIdentifier/wos/WOS:001071591800001; volume:38; issue:12; firstpage:2241; lastpage:2248; numberofpages:8; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11585/955745Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85172128841

الإتاحة: https://doi.org/10.1002/mds.29617Test
https://hdl.handle.net/11585/955745Test

المؤلفون: Invernizzi F., Izzo R., Colangelo I., Legati A., Zanetti N., Garavaglia B., Lamantea E., Peverelli L., Ardissone A., Moroni I., Maggi L., Bonanno S., Fiori L., Velardo D., Magri F., Comi G. P., Ronchi D., Ghezzi D., Lamperti C.

المساهمون: F. Invernizzi, R. Izzo, I. Colangelo, A. Legati, N. Zanetti, B. Garavaglia, E. Lamantea, L. Peverelli, A. Ardissone, I. Moroni, L. Maggi, S. Bonanno, L. Fiori, D. Velardo, F. Magri, G.P. Comi, D. Ronchi, D. Ghezzi, C. Lamperti

مصطلحات موضوعية: creatine kinase, hyperCKemia, myoglobinuria, Next Generation Sequencing (NGS), rhabdomyolysi, skeletal muscle damage, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37510298; info:eu-repo/semantics/altIdentifier/wos/WOS:001036056200001; volume:14; issue:7; firstpage:1; lastpage:18; numberofpages:18; journal:GENES; https://hdl.handle.net/2434/993814Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165879611

الإتاحة: https://doi.org/10.3390/genes14071393Test
https://hdl.handle.net/2434/993814Test

المؤلفون: Calì, E, Lin, SJ, Rocca, C, Sahin, Y, Al Shamsi, A, El Chehadeh, S, Chaabouni, M, Mankad, K, Galanaki, E, Efthymiou, S, Sudhakar, S, Athanasiou-Fragkouli, A, Çelik, T, Narlı, N, Bianca, S, Murphy, D, De Carvalho Moreira, FM, Hannah, MG, Bugiardini, E, Kriouile, Y, El Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Di Rosa, G, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Savasta, S, Ruiz, AM, Garavaglia, B, Borgione, E, Papacostas, S, Compagnoni, C, Piccirilli, A, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Shaikh, F, Scardamaglia, A, Koutsis, G, Mangano, S, Scuderi, C, Morello, G, Zollo, M, Heimer, G, Striano, P, Al-Khawaja, I, Al-Mutairi, F, Alkuraya, FS, Rizig, M, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Xiromerisiou, G, Spanaki, C, Tucci, A, Fiorillo, C, Rissotto, F, Munell, F, Gagliano, A, Jan, F, Chimenz, R, Gitto, E, Cuppari, C, Romeo, C, Magrinelli, F, Gupta, N, Kabra, M, Benrhouma, H, Tazir, M, Zagaroli, L, Caloisi, C, Fabiano, C, Bottone, G, Farello, G, Di Fabio, S, Obeid, M, Bakhtadze, S, Saadi, NW

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10155099Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10155099Test/

المؤلفون: Monfrini, E, Ciolfi, A, Cavallieri, F, Ferilli, M, Soliveri, P, Pedace, L, Erro, R, Del Sorbo, F, Valzania, F, Fioravanti, V, Cossu, G, Pellegrini, M, Salviati, L, Invernizzi, F, Oppo, V, Murgia, D, Giometto, B, Picillo, M, Garavaglia, B, Morgante, F, Tartaglia, M, Carecchio, M, Di Fonzo, A

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115045/1/fcac276.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115045/6/fcac276_supplementary_data.zipTest; Monfrini, E; Ciolfi, A; Cavallieri, F; Ferilli, M; Soliveri, P; Pedace, L; Erro, R; Del Sorbo, F; Valzania, F; Fioravanti, V; et al. Monfrini, E; Ciolfi, A; Cavallieri, F; Ferilli, M; Soliveri, P; Pedace, L; Erro, R; Del Sorbo, F; Valzania, F; Fioravanti, V; Cossu, G; Pellegrini, M; Salviati, L; Invernizzi, F; Oppo, V; Murgia, D; Giometto, B; Picillo, M; Garavaglia, B; Morgante, F; Tartaglia, M; Carecchio, M; Di Fonzo, A (2022) Adult-onset KMT2B-related dystonia. BRAIN COMMUNICATIONS, 4 (6). fcac276. ISSN 2632-1297 https://doi.org/10.1093/braincomms/fcac276Test SGUL Authors: Morgante, Francesca

الإتاحة: https://doi.org/10.1093/braincomms/fcac276Test
https://openaccess.sgul.ac.uk/id/eprint/115045Test/
https://openaccess.sgul.ac.uk/id/eprint/115045/1/fcac276.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115045/6/fcac276_supplementary_data.zipTest

المؤلفون: Ciolfi A., Foroutan A., Capuano A., Pedace L., Travaglini L., Pizzi S., Andreani M., Miele E., Invernizzi F., Reale C., Panteghini C., Iascone M., Niceta M., Gavrilova R. H., Schultz-Rogers L., Agolini E., Bedeschi M. F., Prontera P., Garibaldi M., Galosi S., Leuzzi V., Soliveri P., Olson R. J., Zorzi G. S., Garavaglia B. M., Tartaglia M., Sadikovic B.

المساهمون: Ciolfi, A., Foroutan, A., Capuano, A., Pedace, L., Travaglini, L., Pizzi, S., Andreani, M., Miele, E., Invernizzi, F., Reale, C., Panteghini, C., Iascone, M., Niceta, M., Gavrilova, R. H., Schultz-Rogers, L., Agolini, E., Bedeschi, M. F., Prontera, P., Garibaldi, M., Galosi, S., Leuzzi, V., Soliveri, P., Olson, R. J., Zorzi, G. S., Garavaglia, B. M., Tartaglia, M., Sadikovic, B.

مصطلحات موضوعية: DNA methylation, Dystonia 28, Episignature, KMT2B

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34380541; info:eu-repo/semantics/altIdentifier/wos/WOS:000684214200001; volume:13; issue:1; firstpage:157; journal:CLINICAL EPIGENETICS; http://hdl.handle.net/11573/1570413Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112295053

الإتاحة: https://doi.org/10.1186/s13148-021-01145-yTest
http://hdl.handle.net/11573/1570413Test

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

العلاقة: 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/11568/1116284Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85109587757

الإتاحة: https://doi.org/10.1186/s13023-021-01941-yTest
http://hdl.handle.net/11568/1116284Test

المؤلفون: Schottlaender L. V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M. P. M., Livingston J. H., Kalmar B., Swayne O., Hotton G., Groppa S., Karashova B. M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J. R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P. J., Brandner S., Aurrand-Lions M., Houlden H.

المساهمون: Schottlaender L.V., Abeti R., Jaunmuktane Z., Macmillan C., Chelban V., O'Callaghan B., McKinley J., Maroofian R., Efthymiou S., Athanasiou-Fragkouli A., Forbes R., Soutar M.P.M., Livingston J.H., Kalmar B., Swayne O., Hotton G., Groppa S., Karashova B.M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y.A., Striano P., Al-Khawaja I., Al-Mutairi F., Sherifa H., Pittman A., Mendes de Oliveira J.R., de Grandis M., Richard-Loendt A., Launchbury F., Althonayan J., McDonnell G., Carr A., Khan S., Beetz C., Bisgin A., Tug Bozdogan S., Begtrup A., Torti E., Greensmith L., Giunti P., Morrison P.J., Brandner S., Aurrand-Lions M., Houlden H.

مصطلحات موضوعية: Fahr disease, familial idiopathic basal ganglia calcification, JAM2, JAM3, knock out mouse model, MYORG, OCLN, primary familial brain calcification, recessive brain calcification, SLC20A2

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32142645; info:eu-repo/semantics/altIdentifier/wos/WOS:000519101800017; volume:106; issue:3; firstpage:412; lastpage:421; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/10447/407084Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85080107983

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
http://hdl.handle.net/10447/407084Test

المؤلفون: Garavaglia B.

الوصول الحر: https://www.europeana.eu/item/496/EVA_131_A113408?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCaTest