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Journal Abstract Search

198 related items for PubMed ID: 24272953

  • 21. AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
    Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI.
    J Clin Invest; 2012 Nov; 122(11):4048-58. PubMed ID: 23041622
    [Abstract] [Full Text] [Related]

  • 22. Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
    Franchino CA, Brughera M, Baderna V, De Ritis D, Rocco A, Seneca S, Regal L, Podini P, D'Antonio M, Toro C, Quattrini A, Scalais E, Maltecca F.
    Brain; 2024 Mar 01; 147(3):1043-1056. PubMed ID: 37804316
    [Abstract] [Full Text] [Related]

  • 23. AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
    Colucci F, Neri M, Fortunato F, Ferlini A, Carrozzo R, Torraco A, Lamantea E, Legati A, Tecilla G, Pugliatti M, Sensi M.
    Cerebellum; 2023 Dec 01; 22(6):1313-1319. PubMed ID: 36447112
    [Abstract] [Full Text] [Related]

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  • 25. Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
    Calandra CR, Buda G, Vishnopolska SA, Oliveri J, Olivieri FA, Pérez Millán MI, Biagioli G, Miquelini LA, Pellene AL, Marti MA.
    Parkinsonism Relat Disord; 2020 Apr 01; 73():52-54. PubMed ID: 32248051
    [No Abstract] [Full Text] [Related]

  • 26. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
    Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A.
    BMC Med Genet; 2015 Mar 19; 16():16. PubMed ID: 25927548
    [Abstract] [Full Text] [Related]

  • 27. 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 19; 18(8):965-8. PubMed ID: 20354562
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  • 29.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Brussino A, Brusco A, Durr A, Mancini C.
    ; 1993 Aug 19. PubMed ID: 21595125
    [Abstract] [Full Text] [Related]

  • 30. Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
    Magri S, Fracasso V, Plumari M, Alfei E, Ghezzi D, Gellera C, Rusmini P, Poletti A, Di Bella D, Elia AE, Pantaleoni C, Taroni F.
    Hum Mutat; 2018 Dec 19; 39(12):2060-2071. PubMed ID: 30252181
    [Abstract] [Full Text] [Related]

  • 31. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
    Baderna V, Schultz J, Kearns LS, Fahey M, Thompson BA, Ruddle JB, Huq A, Maltecca F.
    Acta Neuropathol Commun; 2020 Jun 29; 8(1):93. PubMed ID: 32600459
    [Abstract] [Full Text] [Related]

  • 32. 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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  • 34. Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
    Zühlke C, Mikat B, Timmann D, Wieczorek D, Gillessen-Kaesbach G, Bürk K.
    Cerebellum Ataxias; 2015 Jun 18; 2():19. PubMed ID: 26677414
    [Abstract] [Full Text] [Related]

  • 35. Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.
    Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F.
    BMC Neurosci; 2010 Apr 28; 11():55. PubMed ID: 20426821
    [Abstract] [Full Text] [Related]

  • 36. Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
    Myers KA, Warman Chardon J, Huang L, Boycott KM.
    Am J Med Genet A; 2014 Dec 28; 164A(12):3209-12. PubMed ID: 25251419
    [No Abstract] [Full Text] [Related]

  • 37. Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
    Felício D, Santos M.
    Cerebellum; 2024 Apr 28; 23(2):678-687. PubMed ID: 36892783
    [Abstract] [Full Text] [Related]

  • 38. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
    Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A.
    Am J Hum Genet; 2023 Jul 06; 110(7):1098-1109. PubMed ID: 37301203
    [Abstract] [Full Text] [Related]

  • 39. Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
    Ghosh Dastidar R, Banerjee S, Lal PB, Ghosh Dastidar S.
    Mol Neurobiol; 2024 Jul 06; 61(7):3788-3808. PubMed ID: 38012514
    [Abstract] [Full Text] [Related]

  • 40. Spinocerebellar ataxia type 23 (SCA23): a review.
    Wu F, Wang X, Li X, Teng H, Tian T, Bai J.
    J Neurol; 2021 Dec 06; 268(12):4630-4645. PubMed ID: 33175256
    [Abstract] [Full Text] [Related]

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