يعرض 1 - 10 نتائج من 432 نتيجة بحث عن '"ARSACS"', وقت الاستعلام: 1.50s تنقيح النتائج
  1. 1
    دورية أكاديمية
    An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study

    المؤلفون: Scaravilli, Alessandra, Gabusi, Ilaria, Mari, Gaia, Battocchio, Matteo, Bosticardo, Sara, Schiavi, Simona, Bender, Benjamin, Kessler, Christoph, Brais, Bernard, La Piana, RobertaAff5, Aff6, van de Warrenburg, Bart P., Cosottini, Mirco, Timmann, Dagmar, Daducci, Alessandro, Schüle, RebeccaAff4, Aff10, Aff11, Synofzik, MatthisAff10, Aff12, Santorelli, Filippo Maria, Cocozza, SirioAff1, IDs0041502412505y_cor19

    المصدر: Journal of Neurology. :1-10

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  2. 2
    دورية أكاديمية
    Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay

    المؤلفون: Chen, Chunling, Merrill, Ronald A., Jong, Chian Ju, Strack, StefanAff1, Aff3, IDs12311024017011_cor4

    المصدر: The Cerebellum. :1-8

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  3. 3
    دورية أكاديمية
    Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

    المؤلفون: Kneer, KatharinaAff1, Aff2, IDs00415023121592_cor1, Straub, StephanieAff1, Aff2, Wittlinger, JuliaAff1, Aff2, Stahl, Jan-HendrikAff1, Aff2, Winter, NatalieAff1, Aff2, Timmann, Dagmar, Schöls, LudgerAff2, Aff3, Aff5, Synofzik, MatthisAff2, Aff3, Aff5, Bender, FriedemannAff3, Aff4, Aff5, Aff6, Grimm, AlexanderAff1, Aff2

    المصدر: Journal of Neurology. 271(5):2494-2502

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  4. 4
    دورية أكاديمية
    Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients

    المؤلفون: Divya, K. P., Cherian, AjithAff1, IDs13760023024000_cor2, Dhing, Hemanga Kumar, Kumar, Savith, Thomas, Bejoy, Faruq, Mohammed

    المصدر: Acta Neurologica Belgica. 124(2):475-484

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  5. 5
    دورية أكاديمية
    Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study

    المؤلفون: Lessard, IsabelleAff1, Aff2, Hébert, Luc J.Aff2, Aff3, Aff4, St-Gelais, Raphaël, Côté, Isabelle, Mathieu, JeanAff2, Aff5, Brais, Bernard, Gagnon, CynthiaAff2, Aff5, Aff7, IDs1231102301646x_cor7

    المصدر: The Cerebellum. :1-9

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  6. 6
    دورية أكاديمية
    Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin

    المؤلفون: Daniele Galatolo, Silvia Rocchiccioli, Nicoletta Di Giorgi, Flavio Dal Canto, Giovanni Signore, Federica Morani, Elisa Ceccherini, Stefano Doccini, Filippo Maria Santorelli

    المصدر: Frontiers in Neuroscience, Vol 18 (2024)

    مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, SACS, fibroblasts, ceramides, diacylglycerols, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fnins.2024.1375299/full; https://doaj.org/toc/1662-453X

    URL الوصول: https://doaj.org/article/b3f9d6025b1443dbb0af7a0a70363fb0

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  7. 7
    دورية أكاديمية
    Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra

    المؤلفون: Ashrafi, Mahmoud RezaAff1, Aff2, Mohammadi, PouriaAff1, Aff3, Tavasoli, Ali RezaAff1, Aff4, Aff5, Heidari, MortezaAff1, Aff4, Hosseinpour, SarehAff1, Aff6, Rasulinejad, Maryam, Rohani, Mohammad, Akbari, Masoud GhahvechiAff1, Aff8, Malamiri, Reza Azizi, Badv, Reza Shervin, Fathi, DavoodAff10, Aff11, Dehnavi, Ali Zare, Savad, Shahram, Rabbani, AliAff1, Aff2, Synofzik, MatthisAff13, Aff14, Mahdieh, NejatAff15, IDs12311022014303_cor16, Rezaei, ZahraAff1, IDs12311022014303_cor17

    المصدر: The Cerebellum. 22(4):640-650

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  8. 8
    دورية أكاديمية
    A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency

    المؤلفون: Danyeong Kim, Nayoung Ryoo, Young Ho Park, Eva Bagyinszky, Seong Soo Alexander An, SangYun Kim

    المصدر: Current Issues in Molecular Biology, Vol 45, Iss 12, Pp 9917-9925 (2023)

    مصطلحات موضوعية: sacsinopathy, SACS, ARSACS, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/1467-3045/45/12/619; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

    URL الوصول: https://doaj.org/article/add939dc022f41ebae9f99774977e872

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  9. 9
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  10. 10
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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