المؤلفون: Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porche, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant- Marechal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, van Broeckhoven, Christine, Brice, Alexis, Durr, Alexandra, Durr, Pr, Alexandra

المساهمون: 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)

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics ; https://hal.sorbonne-universite.fr/hal-03997720Test ; Genetics in medicine : official journal of the American College of Medical Genetics, 2022, ⟨10.1016/j.gim.2022.10.009.⟩

مصطلحات موضوعية: SCA48 SCA17 TBP STUB1 spinocerebellar ataxia cognitive impairment, SCA48, SCA17, TBP, STUB1, spinocerebellar ataxia, cognitive impairment, [SDV]Life Sciences [q-bio]

العلاقة: hal-03997720; https://hal.sorbonne-universite.fr/hal-03997720Test; https://hal.sorbonne-universite.fr/hal-03997720/documentTest; https://hal.sorbonne-universite.fr/hal-03997720/file/manuscript_HAL.pdfTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.10.00910.1016/j.gim.2022.10.009Test.
https://hal.sorbonne-universite.fr/hal-03997720Test
https://hal.sorbonne-universite.fr/hal-03997720/documentTest
https://hal.sorbonne-universite.fr/hal-03997720/file/manuscript_HAL.pdfTest

المؤلفون: Marlen Colleen Reis, Julia Patrun, Nibal Ackl, Pia Winter, Maximilian Scheifele, Adrian Danek, Dagmar Nolte

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: dementia syndrome, intron retention, cryptic splice site, STUB1, SCA48, TBP, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2022.878236/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/2095825f2fb84ecd89d68889b42fd778Test

المؤلفون: Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., Synofzik, Matthis

المصدر: http://lobid.org/resources/99370671259506441Test#!, 268(10):3845-3851.

مصطلحات موضوعية: SCA48, Ataxia, Dominant, Adult [MeSH], Humans [MeSH], Ataxia/genetics [MeSH], Spinocerebellar Ataxias [MeSH], Ubiquitin-Protein Ligases/genetics [MeSH], Cerebellar Ataxia [MeSH], CHIP, Pedigree [MeSH], STUB1, Phenotype [MeSH], Early-onset ataxia, Original Communication

العلاقة: https://repository.publisso.de/resource/frl:6450270Test; https://doi.org/10.1007/s00415-021-10524-7Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8463406Test/

الإتاحة: https://doi.org/10.1007/s00415-021-10524-7Test
https://repository.publisso.de/resource/frl:6450270Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8463406Test/

المؤلفون: Ravel, Jean-Marie, Benkirane, Mehdi, Calmels, Nadège, Marelli, Cecilia, Ory-Magne, Fabienne, Ewenczyk, Claire, Halleb, Yosra, Tison, François, Lecocq, Claire, Pische, Guillaume, Casenave, Philippe, Chaussenot, Annabelle, Frismand, Solène, Tyvaert, Louise, Larrieu, Lise, Pointaux, Morgane, Drouot, Nathalie, Bossenmeyer-Pourié, Carine, Oussalah, Abderrahim, Guéant, Jean-Louis, Leheup, Bruno, Bonnet, Céline, Anheim, Mathieu, Tranchant, Christine, Lambert, Laëtitia, Chelly, Jamel, Koenig, Michel, Renaud, Mathilde

المساهمون: Service de Génétique Médicale CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut Universitaire de Recherche Clinique, Institut de génétique médicale d’Alsace (IGMA), Université de Strasbourg (UNISTRA)-Les Hôpitaux Universitaires de Strasbourg (HUS), Les Hôpitaux Universitaires de Strasbourg (HUS), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Imagerie cérébrale et handicaps neurologiques (ICHN), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut des Maladies Neurodégénératives Bordeaux (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), CHU Bordeaux, Centre hospitalier de Haguenau, Centre Hospitalier Libourne, Hôpital l'Archet, Service de neurologie CHRU Nancy, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biochimie – Biologie moléculaire et Nutrition CHRU Nancy, Hôpital de Hautepierre Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA)

المصدر: ISSN: 0340-5354.

مصطلحات موضوعية: SCA48, SCAR16, STUB1, Ataxia, Dominant, Recessive, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33417001; hal-03359686; https://hal.science/hal-03359686Test; https://hal.science/hal-03359686/documentTest; https://hal.science/hal-03359686/file/2021%20Ravel%20et%20al.,%20Expanding.pdfTest; PUBMED: 33417001

الإتاحة: https://doi.org/10.1007/s00415-020-10348-xTest
https://hal.science/hal-03359686Test
https://hal.science/hal-03359686/documentTest
https://hal.science/hal-03359686/file/2021%20Ravel%20et%20al.,%20Expanding.pdfTest

المؤلفون: Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Ståle Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 11; Pages: 5870

مصطلحات موضوعية: spinocerebellar ataxia, SCA48, SCAR16, CHIP, STUB1, E3 ubiquitin ligase

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms22115870Test

الإتاحة: https://doi.org/10.3390/ijms22115870Test

المؤلفون: Karunanayake, Chamithi Samadharshi

مصطلحات موضوعية: Biochemistry, Chemistry, Biophysics, Biology, Hsp70, CHIP, STUB1, Molecular Chaperones, Protein Quality Control, Model proteins, Misfolded Proteins, HSP70/CHIP Triage decision, Cochaperones, Ubiquitination, Protein Folding, Hsp40, Hsp70 T13G, client protein, protein engineering, neurodegenerative diseases, SCA48

الإتاحة: http://rave.ohiolink.edu/etdc/view?acc_num=miami1683899932999732Test

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: Patrun, Julia

المساهمون: Nolte, Dagmar, Huttner, Hagen

مصطلحات موضوعية: SCA48, Ataxie, Humangenetik, Spinocerebelläre Ataxie, Demenz, STUB1-Gen, STUB1, ddc:610

وصف الملف: application/pdf

العلاقة: https://jlupub.ub.uni-giessen.de//handle/jlupub/18371Test; http://dx.doi.org/10.22029/jlupub-17735Test

الإتاحة: https://doi.org/10.22029/jlupub-17735Test
https://jlupub.ub.uni-giessen.de//handle/jlupub/18371Test

المؤلفون: Friedemann Bender, Tobias B. Haack, Alejandra Leyva-Gutiérrez, Stefan Hauser, Selina Reich, Matthis Synofzik, Andreas Traschütz, David Mengel

المصدر: Journal of Neurology
J Neurol
Journal of neurology 268(10), 3845-3851 (2021). doi:10.1007/s00415-021-10524-7

مصطلحات موضوعية: Adult, 0301 basic medicine, Spastic gait, Ataxia, Cerebellar Ataxia, Ubiquitin-Protein Ligases, Early-onset ataxia, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, SCA48, medicine, Humans, Spinocerebellar Ataxias, Dominant, ddc:610, Index case, Exome sequencing, genetics [Ubiquitin-Protein Ligases], Genetics, Sanger sequencing, Original Communication, CHIP, genetics [Ataxia], medicine.disease, Phenotype, Pedigree, Neurology, symbols, Neurology (clinical), medicine.symptom, STUB1, Myoclonus, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0430d5db90a8dd946a2daa5a95067d5eTest
https://doi.org/10.1007/s00415-021-10524-7Test

المؤلفون: Marlen Colleen Reis, Julia Patrun, Nibal Ackl, Pia Winter, Maximilian Scheifele, Adrian Danek, Dagmar Nolte

مصطلحات موضوعية: Molecular Biology, Neuroscience, Structural Biology, Central Nervous System, Molecular Evolution, Molecular Medicine, dementia syndrome, intron retention, cryptic splice site, STUB1, SCA48, TBP, SCA17

العلاقة: https://figshare.com/articles/figure/Image_1_A_Severe_Dementia_Syndrome_Caused_by_Intron_Retention_and_Cryptic_Splice_Site_Activation_in_STUB1_and_Exacerbated_by_TBP_Repeat_Expansions_pdf/19595842Test

الإتاحة: https://doi.org/10.3389/fnmol.2022.878236.s001Test
https://figshare.com/articles/figure/Image_1_A_Severe_Dementia_Syndrome_Caused_by_Intron_Retention_and_Cryptic_Splice_Site_Activation_in_STUB1_and_Exacerbated_by_TBP_Repeat_Expansions_pdf/19595842Test