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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

464 related items for PubMed ID: 32246862

  • 21.
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  • 22. Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.
    Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, Fritz S, Beauvallet C, Albaric O, Venot E, Bertaud M, Saintilan R, Guatteo R, Esquerré D, Branchu J, Fleming A, Brice A, Darios F, Vilotte JL, Stevanin G, Boichard D, El Hachimi KH.
    PLoS Genet; 2018 Aug; 14(8):e1007550. PubMed ID: 30067756
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  • 23. Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
    Fellner A, Lossos A, Kogan E, Argov Z, Gonzaga-Jauregui C, Shuldiner AR, Darawshe M, Bazak L, Lidzbarsky G, Shomron N, Basel-Salmon L, Goldberg Y.
    Clin Genet; 2021 May; 99(5):713-718. PubMed ID: 33491183
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  • 24. A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
    Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A.
    J Neurol; 2023 Oct; 270(10):5057-5063. PubMed ID: 37418012
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  • 25. A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.
    Wang S, Wang Y, Wu Y, Zhang J, Zhang W, Li C, Song X.
    BMC Neurol; 2022 May 30; 22(1):200. PubMed ID: 35637455
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  • 26. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
    Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB.
    Mov Disord; 2015 Feb 30; 30(2):262-6. PubMed ID: 25545641
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  • 30. A Diagnostic Approach to Spastic ataxia Syndromes.
    Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP.
    Cerebellum; 2022 Dec 30; 21(6):1073-1084. PubMed ID: 34782953
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  • 36. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018 Dec 30; 155():191-203. PubMed ID: 29891058
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  • 40. Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.
    Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W.
    Neurogenetics; 2013 Nov 30; 14(3-4):247-50. PubMed ID: 23975261
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