المؤلفون: Mereaux, JL, Firanescu, C, Coarelli, G, Kvarnung, M, Rodrigues, R, Pegoraro, E, Tazir, M, Taithe, F, Valter, R, Huin, V, Lidstrom, K, Banneau, G, Morais, S, Parodi, L, Coutelier, M, Papin, M, Svenningsson, P, Azulay, JP, Alonso, I, Nilsson, D, Brice, A, Le Guern, E, Press, R, Vazza, G, Loureiro, JL, Goizet, C, Durr, A, Paucar, M, Stevanin, G

المصدر: Neurogenetics. 22(1):71-79

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145710632Test

المؤلفون: Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C.

المساهمون: Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C.

مصطلحات موضوعية: Hereditary spastic paraplegia, inherited rare neurologic disorder, degeneration of the corticospinal tract, Spastic paraplegia type 4, SPG4

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35372684; info:eu-repo/semantics/altIdentifier/wos/WOS:000779091600009; volume:8; issue:2; firstpage:1; lastpage:15; numberofpages:15; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11585/897512Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129284773; https://ng.neurology.org/content/8/2/e664Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000664Test
https://hdl.handle.net/11585/897512Test
https://ng.neurology.org/content/8/2/e664Test

المؤلفون: Faccinetto C., Sabbatini D., Serventi P., Rigato M., Salvoro C., Casamassima G., Margiotta G., De Fanti S., Sarno S., Staiti N., Luiselli D., Marino A., Vazza G.

المساهمون: Faccinetto C., Sabbatini D., Serventi P., Rigato M., Salvoro C., Casamassima G., Margiotta G., De Fanti S., Sarno S., Staiti N., Luiselli D., Marino A., Vazza G.

مصطلحات موضوعية: Forensic genetic, Internal validation, Ion Torrent, Massive parallel sequencing, NGS, Whole mitochondrial genome

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34491421; info:eu-repo/semantics/altIdentifier/wos/WOS:000693478400003; volume:135; issue:6; firstpage:2295; lastpage:2306; numberofpages:12; journal:INTERNATIONAL JOURNAL OF LEGAL MEDICINE; https://hdl.handle.net/11585/838776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114288868; https://link.springer.com/article/10.1007/s00414-021-02686-wTest

الإتاحة: https://doi.org/10.1007/s00414-021-02686-wTest
https://hdl.handle.net/11585/838776Test

المؤلفون: Roux T., Barbier M., Papin M., Davoine C. -S., Sayah S., Coarelli G., Charles P., Marelli C., Parodi L., Tranchant C., Goizet C., Klebe S., Lohmann E., Van Maldergen L., van Broeckhoven C., Coutelier M., Tesson C., Stevanin G., Duyckaerts C., Brice A., Durr A., Darios F., Forlani S., Site P. -S., Banneau G., Cazeneuve C., Fontaine B., Azulay J. -P., Boesfplug-Tanguy O., Hannequin D., Hazan J., Burgo A., Verny C., Koenig M., Labauge P., N'guyen K., Rodriguez D., Belarbi S., Hamri A., Tazir M., Boesch S., Pandolfo M., Laura J., Guergueltcheva V., Tournev I., Pedraza Linares O. L., Nielsen J. E., Svenstrup K., Zaki M., Bauer P., Schols L., Schule R., Lossos A., Bassi M. -T., Basso M., Bertini E., Brusco A., Casali C., Casari G., Criscuolo C., Filla A., Orsi L., Santorelli F. M., Valente E. M., Vavla M., Vazza G., Megarbane A., Benomar A., Kremer B., Van Roon-Mom W., Roxburgh R., Erichsen A. K., Tallaksen C., Alonso I., Coutinho P., Loureiro J. L., Sequeiros J., Salih M., Kostic V. S., Rouco Axpe I., Elsayed L., Paucar M. A., Roumani S., Bing-Wen S., Reid E., Suran N., Warner T., Wood N.

المساهمون: Roux, T., Barbier, M., Papin, M., Davoine, C. -S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., Darios, F., Forlani, S., Site, P. -S., Banneau, G., Cazeneuve, C., Fontaine, B., Azulay, J. -P., Boesfplug-Tanguy, O., Hannequin, D., Hazan, J., Burgo, A., Verny, C., Koenig, M., Labauge, P., N'Guyen, K., Rodriguez, D., Belarbi, S., Hamri, A., Tazir, M., Boesch, S., Pandolfo, M., Laura, J., Guergueltcheva, V., Tournev, I., Pedraza Linares, O. L., Nielsen, J. E., Svenstrup, K., Zaki, M., Bauer, P., Schols, L., Schule, R., Lossos, A., Bassi, M. -T., Basso, M., Bertini, E., Brusco, A., Casali, C., Casari, G., Criscuolo, C., Filla, A., Orsi, L., Santorelli, F. M., Valente, E. M., Vavla, M., Vazza, G., Megarbane, A., Benomar, A., Kremer, B., Van Roon-Mom, W., Roxburgh, R., Erichsen, A. K., Tallaksen, C., Alonso, I., Coutinho, P., Loureiro, J. L., Sequeiros, J., Salih, M., Kostic, V. S., Rouco Axpe, I., Elsayed, L., Paucar, M. A., Roumani, S., Bing-Wen, S., Reid, E., Suran, N., Warner, T., Wood, N.

مصطلحات موضوعية: cognitive impairment, SCA48, SCAR16, spinocerebellar ataxia, STUB1, ATP-Dependent Protease, ATPases Associated with Diverse Cellular Activitie, Ataxia, Female, Human, Male, Ubiquitin-Protein Ligase, Cerebellar Ataxia, Cognitive Dysfunction, Spinocerebellar Ataxias

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32713943; info:eu-repo/semantics/altIdentifier/wos/WOS:000553063200001; volume:22; issue:11; firstpage:1851; lastpage:1862; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11573/1638822Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088563670

الإتاحة: https://doi.org/10.1038/s41436-020-0899-xTest
https://hdl.handle.net/11573/1638822Test

المؤلفون: Coutelier M., Hammer M. B., Stevanin G., Monin M. -L., Davoine C. -S., Mochel F., Labauge P., Ewenczyk C., Ding J., Gibbs J. R., Hannequin D., Melki J., Toutain A., Laugel V., Forlani S., Charles P., Broussolle E., Thobois S., Afenjar A., Anheim M., Calvas P., Castelnovo G., De Broucker T., Vidailhet M., Moulignier A., Ghnassia R. T., Tallaksen C., Mignot C., Goizet C., Le Ber I., Ollagnon-Roman E., Pouget J., Brice A., Singleton A., Durr A., Belarabi S., Hamri A., Tazir M., Boesch S., Pandolfo M., Ullmann U., Jardim L., Guergueltcheva V., Tournev I., Soong B. -W., Linares O. L. P., Nielsen J. E., Svenstrup K., Zaki M., Azulay J. -P., Banneau G., Boesfplug-Tanguy O., Burgo A., Cazeneuve C., Darios F., Depienne C., Duyckaerts C., Fontaine B., Hazan J., Koenig M., Marelli C., N'guyen K., Rodriguez D., Sittler A., Verny C., Bauer P., Schols L., Schule R., Koutsis G., Lossos A., Antenora A., Bassi M. T., Basso M., Bertini E., Brusco A., Casali C., Casari G., Criscuolo C., Filla A., Lieto M., Orsi L., Santorelli F. M., Valente E. M., Vavla M., Vazza G., Megarbane A., Benomar A., Roxburgh R., Erichsen A. K., Alonso I., Coutinho P., Loureiro J. L., Sequeiros J., Salih M., Kostic V. S., Axpe I. R., Roumani S., Kremer B., Van Roon-Mom W., Boukhris A., Mhiri C., Karabay A., Nethisinghe S., Okane C., Oliva M., Reid E., Warner T., Wood N.

المساهمون: Coutelier M., Hammer M.B., Stevanin G., Monin M.-L., Davoine C.-S., Mochel F., Labauge P., Ewenczyk C., Ding J., Gibbs J.R., Hannequin D., Melki J., Toutain A., Laugel V., Forlani S., Charles P., Broussolle E., Thobois S., Afenjar A., Anheim M., Calvas P., Castelnovo G., De Broucker T., Vidailhet M., Moulignier A., Ghnassia R.T., Tallaksen C., Mignot C., Goizet C., Le Ber I., Ollagnon-Roman E., Pouget J., Brice A., Singleton A., Durr A., Belarabi S., Hamri A., Tazir M., Boesch S., Pandolfo M., Ullmann U., Jardim L., Guergueltcheva V., Tournev I., Soong B.-W., Linares O.L.P., Nielsen J.E., Svenstrup K., Zaki M., Azulay J.-P., Banneau G., Boesfplug-Tanguy O., Burgo A., Cazeneuve C., Darios F., Depienne C., Duyckaerts C., Fontaine B., Hazan J., Koenig M., Marelli C., N'guyen K., Rodriguez D., Sittler A., Verny C., Bauer P., Schols L., Schule R., Koutsis G., Lossos A., Antenora A., Bassi M.T., Basso M., Bertini E., Brusco A., Casali C., Casari G., Criscuolo C., Filla A., Lieto M., Orsi L., Santorelli F.M., Valente E.M., Vavla M., Vazza G., Megarbane A., Benomar A., Roxburgh R., Erichsen A.K., Alonso I., Coutinho P., Loureiro J.L., Sequeiros J., Salih M., Kostic V.S., Axpe I.R., Roumani S., Kremer B., Van Roon-Mom W., Boukhris A.

مصطلحات موضوعية: ataxia, exome sequencing, disease genes, spastic ataxia, oculomotor apraxia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29482223; info:eu-repo/semantics/altIdentifier/wos/WOS:000432316000013; volume:75; issue:5; firstpage:591; lastpage:599; numberofpages:9; journal:JAMA NEUROLOGY; http://hdl.handle.net/2318/1705717Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047087037; https://jamanetwork.com/journals/jamaneurology/currentissueTest

الإتاحة: https://doi.org/10.1001/jamaneurol.2017.5121Test
http://hdl.handle.net/2318/1705717Test
https://jamanetwork.com/journals/jamaneurology/currentissueTest

المؤلفون: Calore, M., Poloni, G., Postma, A. V., Lorenzon, A., Minervini, G., Vazza, G., Li Mura, I. E. A., Telatin, A., Zara, I., Simionati, B., Ponti, J., Occhi, G., Vitiello, L., Bauce, B., Tosatto, S. C. E., van Tintelen, P. J., Rampazzo, A., De Bortoli, M.

المصدر: Calore , M , Poloni , G , Postma , A V , Lorenzon , A , Minervini , G , Vazza , G , Li Mura , I E A , Telatin , A , Zara , I , Simionati , B , Ponti , J , Occhi , G , Vitiello , L , Bauce , B , Tosatto , S C E , van Tintelen , P J , Rampazzo , A & De Bortoli , M 2019 , ' Next Generation Sequencing identifies novel variants in TJP1, TP63 and PPP1R13L genes in Arrhythmogenic Cardiomyopathy patients ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/37d6d77c-3197-4ab5-8989-ba40b4e69d1aTest

الإتاحة: https://doi.org/10.1038/s41431-019-0381-xTest
https://cris.maastrichtuniversity.nl/en/publications/37d6d77c-3197-4ab5-8989-ba40b4e69d1aTest

المؤلفون: Regazzo, D, Losa, M, Albiger, N M, Terreni, M R, Vazza, G, Ceccato, F, Emanuelli, E, Denaro, L, Scaroni, C, Occhi, G

المصدر: European Journal of Endocrinology ; volume 176, issue 5, page 543-553 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1530/eje-16-0831Test
https://eje.bioscientifica.com/view/journals/eje/176/5/543.xmlTest

المؤلفون: Méreaux, J. L., Banneau, G., Papin, M., Coarelli, G., Valter, R., Raymond, L., Kol, B., Ariste, O., Parodi, L., Tissier, L., Mairey, M., Ait Said, S., Gautier, C., Guillaud-Bataille, M., Forlani, S., De La Grange, P., Brice, A., Vazza, G., Durr, A., Leguern, E., Stevanin, G.

المساهمون: Université de Lille, Inserm, CHU Lille

مصطلحات موضوعية: genetic diagnosis, structural variants, next-generation sequencing, targeted gene panel, hereditary spastic paraplegia

العلاقة: Brain; http://hdl.handle.net/20.500.12210/69303Test

الإتاحة: https://doi.org/20.500.12210/69303Test
https://hdl.handle.net/20.500.12210/69303Test

المؤلفون: Méreaux, J. L., Firanescu, C., Coarelli, G., Kvarnung, M., Rodrigues, R., Pegoraro, E., Tazir, M., Taithe, F., Valter, R., Huin, V., Lidström, K., Banneau, G., Morais, S., Parodi, L., Coutelier, M., Papin, M., Svenningsson, P., Azulay, J. P., Alonso, I., Nilsson, D., Brice, A., Le Guern, E., Press, R., Vazza, G., Loureiro, J. L., Goizet, C., Durr, A., Paucar, M., Stevanin, G.

المساهمون: Université de Lille, Inserm, CHU Lille

مصطلحات موضوعية: Cerebellar ataxia, Spastic paraplegia, Neurodegeneration, Spastic ataxia, CAPN1

العلاقة: neurogenetics; http://hdl.handle.net/20.500.12210/69562Test

الإتاحة: https://doi.org/20.500.12210/69562Test
https://hdl.handle.net/20.500.12210/69562Test

المؤلفون: Falcone, France, Manno, N., Sherratt, S., Boaretto, F., Espinoza Camus, C., Jara Campos, C., Musumeci, S., Battisti, A., Quinnell, R.J., Vazza, G., Mostacciuolo, M.L., Paoletti, M.G.

مصطلحات موضوعية: Human chitotriosidase, Amazonian Amerindians, Exposure to chitin, Chitin-bearing parasites, 24-bp duplication/H-allele, Single nucleotide polymorphisms

العلاقة: https://nottingham-repository.worktribe.com/output/1115243Test; Volume 113; Pagination 607-614; https://nottingham-repository.worktribe.com/file/1115243/1/1-s2.0-S0144861714006845-mainTest

الإتاحة: https://doi.org/10.1016/j.carbpol.2014.07.011Test
https://nottingham-repository.worktribe.com/file/1115243/1/1-s2.0-S0144861714006845-mainTest
https://nottingham-repository.worktribe.com/output/1115243Test