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Journal Abstract Search

157 related items for PubMed ID: 22563911

  • 1. Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
    Jia D, Tang B, Chen Z, Shi Y, Sun Z, Zhang L, Wang J, Xia K, Jiang H.
    Int J Neurosci; 2012 Oct; 122(10):560-2. PubMed ID: 22563911
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  • 2. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
    Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A.
    Hum Mutat; 2010 Oct; 31(10):1117-24. PubMed ID: 20725928
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  • 3. A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
    Musova Z, Kaiserova M, Kriegova E, Fillerova R, Vasovcak P, Santava A, Mensikova K, Zumrova A, Krepelova A, Sedlacek Z, Kanovsky P.
    Cerebellum; 2014 Jun; 13(3):331-7. PubMed ID: 24272953
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  • 4. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
    Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C.
    PLoS Genet; 2011 Oct; 7(10):e1002325. PubMed ID: 22022284
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  • 5. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
    Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C.
    Eur J Hum Genet; 2010 Aug; 18(8):965-8. PubMed ID: 20354562
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  • 6. Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
    Smets K, Deconinck T, Baets J, Sieben A, Martin JJ, Smouts I, Wang S, Taroni F, Di Bella D, Van Hecke W, Parizel PM, Jadoul C, De Potter R, Couvreur F, Rugarli E, De Jonghe P.
    Neurology; 2014 Jun 10; 82(23):2092-100. PubMed ID: 24814845
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  • 7. Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.
    Chiang HL, Fuh JL, Tsai YS, Soong BW, Liao YC, Lee YC.
    J Neurol Sci; 2021 Sep 15; 428():117600. PubMed ID: 34333379
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  • 11. SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.
    Svenstrup K, Nielsen TT, Aidt F, Rostgaard N, Duno M, Wibrand F, Vinther-Jensen T, Law I, Vissing J, Roos P, Hjermind LE, Nielsen JE.
    Cerebellum; 2017 Feb 15; 16(1):62-67. PubMed ID: 26868664
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  • 12. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
    Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F.
    Nat Genet; 2010 Apr 15; 42(4):313-21. PubMed ID: 20208537
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  • 13. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
    Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW.
    JAMA Neurol; 2015 Jan 15; 72(1):106-11. PubMed ID: 25420100
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  • 14. Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.
    Chen Z, Li X, Tang B, Wang J, Shi Y, Sun Z, Zhang L, Pan Q, Xia K, Jiang H.
    Neurosci Lett; 2012 Jun 27; 520(1):16-9. PubMed ID: 22579694
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  • 15. Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.
    Maltecca F, Baseggio E, Consolato F, Mazza D, Podini P, Young SM, Drago I, Bahr BA, Puliti A, Codazzi F, Quattrini A, Casari G.
    J Clin Invest; 2015 Jan 27; 125(1):263-74. PubMed ID: 25485680
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  • 16. Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
    Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A.
    BMC Med Genomics; 2013 Jun 18; 6():22. PubMed ID: 23777634
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  • 17. Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population.
    Liu YT, Tang BS, Wang JL, Guan WJ, Shen L, Shi YT, Zhou Y, Yan XX, Xia K, Jiang H.
    Neurosci Lett; 2012 Oct 18; 528(1):51-4. PubMed ID: 22985506
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  • 19. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
    Whaley NR, Fujioka S, Wszolek ZK.
    Orphanet J Rare Dis; 2011 May 28; 6():33. PubMed ID: 21619691
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  • 20. Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.
    Szpisjak L, Nemeth VL, Szepfalusi N, Zadori D, Maroti Z, Kalmar T, Vecsei L, Klivenyi P.
    Cerebellum; 2017 Dec 28; 16(5-6):979-985. PubMed ID: 28660440
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