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1دورية أكاديمية
المؤلفون: Palombo, FlaviaAff1, IDs10048024007588_cor1, Vaisfeld, AlessandroAff2, Aff3, Tropeano, Valentina Concetta, Ormanbekova, Danara, Bacchi, IsabelleAff2, Aff3, Fiorini, Claudio, Peruzzi, AdelaideAff2, Aff3, Morandi, LucaAff4, Aff5, Liguori, RoccoAff4, Aff5, Carelli, ValerioAff1, Aff5, Rizzo, Giovanni
المصدر: Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. 25(3):277-280
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2دورية أكاديمية
المؤلفون: Rebecca Earnshaw, Yu Tong Zhang, Gregory Heymann, Kazuko Fujisawa, Sarah Hui, Minesh Kapadia, Lorraine V. Kalia, Suneil K. Kalia
المصدر: Neurobiology of Disease, Vol 200, Iss , Pp 106625- (2024)
مصطلحات موضوعية: Mitophagy, STUB1, Neurodegeneration, SCA48, Ataxia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Mengel, DavidAff1, Aff2, Traschütz, AndreasAff1, Aff2, Reich, SelinaAff1, Aff2, Leyva-Gutiérrez, AlejandraAff1, Aff2, Bender, FriedemannAff1, Aff2, Hauser, StefanAff1, Aff2, Haack, Tobias B.Aff3, Aff4, Synofzik, MatthisAff1, Aff2
المصدر: Journal of Neurology. 268(10):3845-3851
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4دورية أكاديمية
المؤلفون: Ravel, Jean-MarieAff1, Aff2, Benkirane, MehdiAff3, Aff4, Calmels, Nadège, Marelli, CeciliaAff6, Aff7, Ory-Magne, Fabienne, Ewenczyk, ClaireAff9, Aff10, Halleb, YosraAff3, Aff4, Tison, FrançoisAff11, Aff12, Lecocq, Claire, Pische, Guillaume, Casenave, Philippe, Chaussenot, Annabelle, Frismand, Solène, Tyvaert, Louise, Larrieu, LiseAff3, Aff4, Pointaux, MorganeAff3, Aff4, Drouot, Nathalie, Bossenmeyer-Pourié, Carine, Oussalah, AbderrahimAff2, Aff18, Guéant, Jean-LouisAff2, Aff18, Leheup, BrunoAff1, Aff2, Bonnet, CélineAff19, Aff2, Anheim, MathieuAff17, Aff20, Aff21, Tranchant, ChristineAff17, Aff20, Aff21, Lambert, LaëtitiaAff1, Aff2, Chelly, JamelAff5, Aff17, Koenig, MichelAff3, Aff4, Renaud, MathildeAff1, Aff2, Aff16
المصدر: Journal of Neurology. 268(5):1927-1937
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5دورية أكاديمية
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
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6دورية أكاديمية
المؤلفون: Cocozza, SirioAff1, Pontillo, Giuseppe, De Michele, Giovanna, Perillo, Teresa, Guerriero, Elvira, Ugga, Lorenzo, Salvatore, Elena, Galatolo, Daniele, Riso, Vittorio, Saccà, Francesco, Quarantelli, Mario, Brunetti, Arturo
المصدر: Neuroradiology: A Journal Dedicated to Neuroimaging and Interventional Neuroradiology. 62(9):1095-1103
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7دورية أكاديمية
المؤلفون: Palvadeau, R., Kaya-Güleç, Z. E., Şimşir, G., Vural, A., Öztop-Çakmak, Ö., Genç, G., Aygün, M. S., Falay, O., Başak, A. NazlıAff1, Ertan, S.Aff3
المصدر: neurogenetics. 21(1):51-58
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8دورية أكاديمية
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, Vol 22, Iss 11, p 5870 (2021)
مصطلحات موضوعية: spinocerebellar ataxia, SCA48, SCAR16, CHIP, STUB1, E3 ubiquitin ligase, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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9
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/s00415-021-10524-7مصطلحات 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
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10دورية أكاديمية
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