المؤلفون: Burgess, R, Wang, SY, McTague, A, Boysen, KE, Yang, XL, Zeng, Q, Myers, KA, Rochtus, A, Trivisano, M, Gill, D, Sadleir, LG, Specchio, N, Guerrini, R, Marini, C, Zhang, YH, Mefford, HC, Kurian, MA, Poduri, AH, Scheffer, IE

المصدر: Annals of neurology. 86(6):821-831

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142352856Test

المؤلفون: Schulz, A, Specchio, N, de los Reyes, E, Gissen, P, Nickel, M, Trivisano, M, Aylward, SC, Chakrapani, A, Schwering, C, Wibbeler, E, Westermann, LM, Ballon, DJ, Dyke, JP, Cherukuri, A, Bondade, S, Slasor, P, Cohen Pfeffer, J

المصدر: Lancet Neurology , 23 (1) pp. 60-70. (2024)

مصطلحات موضوعية: Humans, Male, Female, Neuronal Ceroid-Lipofuscinoses, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Tripeptidyl-Peptidase 1, Recombinant Proteins

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186205/1/THELANCETNEUROLOGY-D-23-00210_R3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10186205Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10186205/1/THELANCETNEUROLOGY-D-23-00210_R3.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10186205Test/

المؤلفون: Oliver, KL, Trivisano, M, Mandelstam, SA, De Dominicis, A, Francis, DI, Green, TE, Muir, AM, Chowdhary, A, Hertzberg, C, Goldhahn, K, Metreau, J, Prager, C, Pinner, J, Cardamone, M, Myers, KA, Leventer, RJ, Lesca, G, Bahlo, M, Hildebrand, MS, Mefford, HC, Kaindl, AM, Specchio, N, Scheffer, IE

العلاقة: NHMRC/1172897; NHMRC/2006841; NHMRC/2010562; Oliver, K. L., Trivisano, M., Mandelstam, S. A., De Dominicis, A., Francis, D. I., Green, T. E., Muir, A. M., Chowdhary, A., Hertzberg, C., Goldhahn, K., Metreau, J., Prager, C., Pinner, J., Cardamone, M., Myers, K. A., Leventer, R. J., Lesca, G., Bahlo, M., Hildebrand, M. S. ,. Scheffer, I. E. (2023). WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. EPILEPSIA, 64 (5), pp.1351-1367. https://doi.org/10.1111/epi.17542Test.; http://hdl.handle.net/11343/333388Test

الإتاحة: https://doi.org/10.1111/epi.17542Test
http://hdl.handle.net/11343/333388Test

المؤلفون: Specchio N, Pietrafusa N, Trivisano M

المصدر: Therapeutics and Clinical Risk Management, Vol Volume 16, Pp 213-222 (2020)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2, tpp1, cerliponase alfa, late infantile, seizures, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/changing-times-for-cln2-disease-the-era-of-enzyme-replacement-therapy-peer-reviewed-article-TCRMTest; https://doaj.org/toc/1178-203XTest

الوصول الحر: https://doaj.org/article/f4e9a0cf20fd47adbb452f95a86298e3Test

المؤلفون: Licchetta L., Trivisano M., Baldin E., Mohamed S., Raschi E., Mostacci B., Zenesini C., Contin M., Vigevano F., Bisulli F., Tinuper P., Vignatelli L.

المساهمون: Licchetta L., Trivisano M., Baldin E., Mohamed S., Raschi E., Mostacci B., Zenesini C., Contin M., Vigevano F., Bisulli F., Tinuper P., Vignatelli L.

مصطلحات موضوعية: COVID-19, epilepsy, telemedicine, Adult, Child, Human, Multicenter Studies as Topic, Outpatient, Quality of Life, Randomized Controlled Trials as Topic, Seizure

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34862297; info:eu-repo/semantics/altIdentifier/wos/WOS:000727532600014; volume:11; issue:12; firstpage:e053980; lastpage:e053980; numberofpages:8; journal:BMJ OPEN; http://hdl.handle.net/11585/854197Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85120959747; https://bmjopen.bmj.com/content/11/12/e053980.longTest

الإتاحة: https://doi.org/10.1136/bmjopen-2021-053980Test
http://hdl.handle.net/11585/854197Test
https://bmjopen.bmj.com/content/11/12/e053980.longTest

المؤلفون: Gissen, P, Specchio, N, Olaye, A, Jain, M, Butt, T, Ghosh, W, Ruban-Fell, B, Griffiths, A, Camp, C, Sisic, Z, Schwering, C, Wibbeler, E, Trivisano, M, Lee, L, Nickel, M, Mortensen, A, Schulz, A

المصدر: Orphanet Journal of Rare Diseases , 16 (1) , Article 217. (2021)

مصطلحات موضوعية: CLN2, Cerliponase alfa, Utility values, Vignettes

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10128100/1/s13023-021-01829-x.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10128100Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10128100/1/s13023-021-01829-x.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10128100Test/

المؤلفون: Kolc, K.L., Sadleir, L.G., Depienne, C., Marini, C., Scheffer, I.E., Møller, R.S., Trivisano, M., Specchio, N., Pham, D., Kumar, R., Roberts, R., Gecz, J.

المصدر: http://dx.doi.org/10.1038/s41398-020-0803-0Test.

مصطلحات موضوعية: Humans, Epilepsy, Cadherins, Cluster Analysis, Phenotype, Adolescent, Patient-Centered Care, Female, Male, Autism Spectrum Disorder, Protocadherins

العلاقة: http://purl.org/au-research/grants/nhmrc/1091593Test; http://purl.org/au-research/grants/nhmrc/1155224Test; Translational Psychiatry, 2020; 10(1):127-1-127-9; http://hdl.handle.net/2440/124997Test; Kolc, K.L. [0000-0001-6247-5544]; Pham, D. [0000-0003-0664-4133]; Kumar, R. [0000-0001-7976-8386]; Roberts, R. [0000-0002-9547-9995]; Gecz, J. [0000-0002-7884-6861]

الإتاحة: https://doi.org/10.1038/s41398-020-0803-0Test
http://hdl.handle.net/2440/124997Test

المؤلفون: Wibbeler, E, Wang, R, Reyes, EDL, Specchio, N, Gissen, P, Guelbert, N, Nickel, M, Schwering, C, Lehwald, L, Trivisano, M, Lee, L, Amato, G, Cohen-Pfeffer, J, Shediac, R, Leal-Pardinas, F, Schulz, A

المصدر: Journal of Child Neurology (2020) (In press).

مصطلحات موضوعية: neuronal ceroid lipofuscinosis type 2, late infantile neuronal ceroid lipofuscinosis, CLN2 disease, natural history, atypical, cerliponase alfa

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118715/1/0883073820977997.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118715Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10118715/1/0883073820977997.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118715Test/

المؤلفون: Burgess, R, Wang, S, McTague, A, Boysen, KE, Yang, X, Zeng, Q, Myers, KA, Rochtus, A, Trivisano, M, Gill, D, Sadleir, LG, Specchio, N, Guerrini, R, Marini, C, Zhang, Y-H, Mefford, HC, Kurian, MA, Poduri, AH, Scheffer, IE

المصدر: Annals of Neurology , 86 (6) pp. 821-831. (2019)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10084470/1/Burgess_et_al-2019-Annals_of_Neurology.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10084470Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10084470/1/Burgess_et_al-2019-Annals_of_Neurology.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10084470Test/

المؤلفون: Calloni, T, Carai, A, Lioi, F, Cavaliere, M, De Benedictis, A, Rossi, S, Randi, F, Espagnet, MCR, Trivisano, M, Cesario, C, Pisaneschi, E, Marasi, A, Savioli, A, Giussani, CG, Marras, CE

المساهمون: Calloni, T, Carai, A, Lioi, F, Cavaliere, M, De Benedictis, A, Rossi, S, Randi, F, Espagnet, M, Trivisano, M, Cesario, C, Pisaneschi, E, Marasi, A, Savioli, A, Giussani, C, Marras, C

مصطلحات موضوعية: Pediatric cavernoma, CCM, Intracranial vascular malformation, Intraoperative ultrasound cavernoma, Cavernous angioma

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35416451; info:eu-repo/semantics/altIdentifier/wos/WOS:001146173400001; journal:JOURNAL OF NEUROSURGICAL SCIENCES; http://hdl.handle.net/10281/367451Test

الإتاحة: https://doi.org/10.23736/S0390-5616.22.05574-6Test
http://hdl.handle.net/10281/367451Test