المؤلفون: Justyna Chojdak-Łukasiewicz, Katarzyna Sulima, Anna Zimny, Marta Waliszewska-Prosół, Sławomir Budrewicz

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 24, p 17530 (2023)

مصطلحات موضوعية: spastic paraplegia, autosomal recessive HSP, spatacsin, ears of the lynx, MRI, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/24/17530Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/1c679bf92bfb44938a2f2042c828ad6dTest

المؤلفون: Juan García-Carmona, Joaquín Amores-Iniesta, José Soler-Usero, María Cerdán-Sánchez, Javier Navarro-Zaragoza, María López-López, Juan Soria-Torrecillas, Ainhoa Ballesteros-Arenas, José Pérez-Vicente, Pilar Almela

المصدر: Genes ; Volume 14 ; Issue 7 ; Pages: 1320

مصطلحات موضوعية: spastic paraplegia, spatacsin, synaptojanin, heat-shock protein 27, dopamine oxidation

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Neurogenomics; https://dx.doi.org/10.3390/genes14071320Test

الإتاحة: https://doi.org/10.3390/genes14071320Test

المؤلفون: Almela, Juan Antonio García-Carmona, Joaquín Amores-Iniesta, José Soler-Usero, María Cerdán-Sánchez, Javier Navarro-Zaragoza, María López-López, Juan José Soria-Torrecillas, Ainhoa Ballesteros-Arenas, José Antonio Pérez-Vicente, Pilar

المصدر: Genes; Volume 14; Issue 7; Pages: 1320

مصطلحات موضوعية: spastic paraplegia, spatacsin, synaptojanin, heat-shock protein 27, dopamine oxidation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::af273b1988de1e147fabdeaa736eae02Test

المؤلفون: Montecchiani, Celeste, Pedace, Lucia, Giudice, Temistocle Lo, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio

مصطلحات موضوعية: ALS5/SPG11/KIAA1840 mutations, axonal degeneration, Charcot–Marie–Tooth disease, spatacsin

العلاقة: http://repo.lib.tokushima-u.ac.jp/files/public/11/115028/20200803171021348086/brain_139_1_73.pdfTest; AA00573228; AA12095112; http://repo.lib.tokushima-u.ac.jp/115028Test

الإتاحة: http://repo.lib.tokushima-u.ac.jp/115028Test

المؤلفون: Pascual, B., de Bot, S. T., Daniels, M. R., Franca, M. C., Toro, C., Riverol, M., Hedera, P., Bassi, M. T., Bresolin, N., van de Warrenburg, B. P., Kremer, B., Nicolai, J., Charles, P., Xu, J., Singh, S., Patronas, N. J., Fung, S. H., Gregory, M. D., Masdeu, J. C.

المصدر: Pascual , B , de Bot , S T , Daniels , M R , Franca , M C , Toro , C , Riverol , M , Hedera , P , Bassi , M T , Bresolin , N , van de Warrenburg , B P , Kremer , B , Nicolai , J , Charles , P , Xu , J , Singh , S , Patronas , N J , Fung , S H , Gregory , M D & Masdeu , J C 2019 , ' "Ears of the Lynx" MRI Sign Is Associated with ....

مصطلحات موضوعية: THIN CORPUS-CALLOSUM, MUTATIONS, SPATACSIN, PHENOTYPES, SPECTRUM, PATIENT

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/fc0a395a-f839-4f16-a4f0-ae19c604ab37Test

الإتاحة: https://doi.org/10.3174/ajnr.A5935Test
https://cris.maastrichtuniversity.nl/en/publications/fc0a395a-f839-4f16-a4f0-ae19c604ab37Test

المؤلفون: Ayoubi, Riham, Fotouhi, Maryam, Ryan, Joel, Reintsch, Wolfgang, Durcan, Thomas M., Brown, Claire M., McPherson, Peter S., Laflamme, Carl

مصطلحات موضوعية: Spastic paraplegia 11 protein, amyotrophic lateral sclerosis, antibody characterization, SPG11, Spatacsin, Colorectal carcinoma-associated protein, antibody validation, ALS-RAP, Q96JI7

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c1dc73c8e7a1398283954cae27dc45dTest

المؤلفون: Pierga, Alexandre

المساهمون: STAR, ABES, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université, Frédéric Darios

المصدر: Neurons and Cognition [q-bio.NC]. Sorbonne Université, 2022. English. ⟨NNT : 2022SORUS093⟩

مصطلحات موضوعية: Paraplégie spastique, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, SPG11, Spatacsin, Tubulation, Spatacsine, Réticulum endoplasmique, Ubiquitine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Lysosomes, Endoplasmic reticulum, Sites de contact, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1398::0338cdaf21780015a08a30ed9cfbb3eeTest
https://theses.hal.science/tel-03828411Test

المؤلفون: Elodie Martin, Constantin Yanicostas, Agnès Rastetter, Seyedeh Maryam Alavi Naini, Alissia Maouedj, Edor Kabashi, Sophie Rivaud-Péchoux, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas

المصدر: Neurobiology of Disease, Vol 48, Iss 3, Pp 299-308 (2012)

مصطلحات موضوعية: Hereditary spastic paraplegia, SPG11, SPG15, Spatacsin, Spastizin, Zebrafish, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996112002446Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/93c7f128e18440f5aaead2bbfde114b1Test

المؤلفون: Denora, Paola S., Smets, Katrien, Zolfanelli, Federica, Groote, Chantal Ceuterick De, Casali, Carlo, Deconinck, Tine, Sieben, Anne, Gonzales, Michael, Zuchner, Stephan, Darios, Frederic, Peeters, Dirk, Brice, Alexis, MALANDRINI, ALESSANDRO, De Jonghe, Peter, Santorelli, Filippo M., Stevanin, Giovanni, Martin, Jean Jacques, El Hachimi, Khalid H.

المساهمون: Denora, Paola S., Smets, Katrien, Zolfanelli, Federica, Groote, Chantal Ceuterick De, Casali, Carlo, Deconinck, Tine, Sieben, Anne, Gonzales, Michael, Zuchner, Stephan, Darios, Frederic, Peeters, Dirk, Brice, Alexi, Malandrini, Alessandro, De Jonghe, Peter, Santorelli, Filippo M., Stevanin, Giovanni, Martin, Jean Jacque, El Hachimi, Khalid H.

مصطلحات موضوعية: Amyotrophic lateral sclerosi, Lipofuscin, Lysosome, Spastic paraplegia 11, Spatacsin, Medicine (all), Arts and Humanities (miscellaneous), Neurology (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27016404; info:eu-repo/semantics/altIdentifier/wos/WOS:000377430200020; volume:139; issue:6; firstpage:1723; lastpage:1734; numberofpages:12; journal:BRAIN; http://hdl.handle.net/11365/998591Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978852397; http://brain.oxfordjournals.orgTest/; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621Test/

الإتاحة: https://doi.org/10.1093/brain/aww061Test
http://hdl.handle.net/11365/998591Test
http://brain.oxfordjournals.orgTest/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621Test/

المؤلفون: Montecchiani C., Pedace L., Lo Giudice T., Casella A., Mearini M., Gaudiello F., Pedroso J. L., Terracciano C., Caltagirone C., Massa R., St. George-Hyslop P. H. St., Barsottini O. G. P., Kawarai T., Orlacchio A.

المساهمون: Montecchiani, C, Pedace, L, Lo Giudice, T, Casella, A, Mearini, M, Gaudiello, F, Pedroso, Jl, Terracciano, C, Caltagirone, C, Massa, R, S, Tgph, Barsottini, Ogp, Kawarai, T, Orlacchio, A

مصطلحات موضوعية: ALS5/SPG11/KIAA1840 mutation, Charcot–Marie–Tooth disease, axonal degeneration, spatacsin, Case-Control Studie, Charcot-Marie-Tooth Disease, Female, Genes, Recessive, Human, Male, Pedigree, Peripheral Nervous System Disease, Protein, Spastic Paraplegia, Hereditary, Mutation, Settore MED/26 - NEUROLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26556829; info:eu-repo/semantics/altIdentifier/wos/WOS:000370205000020; volume:139; issue:1; firstpage:73; lastpage:85; numberofpages:13; journal:BRAIN; http://hdl.handle.net/2108/255759Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964665877

الإتاحة: https://doi.org/10.1093/brain/awv320Test
http://hdl.handle.net/2108/255759Test