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Journal Abstract Search

192 related items for PubMed ID: 25927548

  • 1. 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
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  • 2. 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 19; 7(10):e1002325. PubMed ID: 22022284
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  • 4. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.
    Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, Kanazawa I, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S.
    J Neurol Sci; 2013 Aug 15; 331(1-2):158-60. PubMed ID: 23786967
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  • 6. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
    Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.
    Orphanet J Rare Dis; 2013 Aug 14; 8():123. PubMed ID: 23941260
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  • 8. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
    Lu C, Zheng YC, Dong Y, Li HF.
    BMC Neurol; 2016 Sep 20; 16(1):179. PubMed ID: 27644330
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  • 11. 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 20; 22(6):1313-1319. PubMed ID: 36447112
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  • 12. Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.
    Pera J, Lechner S, Biskup S, Strach M, Grodzicki T, Slowik A.
    Clin Neurol Neurosurg; 2015 Jan 20; 128():44-6. PubMed ID: 25462094
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  • 16. 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 20; 13(3):331-7. PubMed ID: 24272953
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  • 17. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
    Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, Grazia D'Angelo M, Falcone S, De Palma C, Tonelli A, Crimella C, Bondioni S, Bresolin N, Clementi E, Bassi MT.
    Neurogenetics; 2010 Feb 20; 11(1):91-100. PubMed ID: 19593598
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  • 18. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
    Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A, Spastic Paraplegia and Ataxia Network.
    JAMA Neurol; 2018 May 01; 75(5):591-599. PubMed ID: 29482223
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  • 20. Some pathogenic SETX variants are partially conserved during evolution.
    Tariq H, Tariq I, Bourinaris T, Houlden H, Naz S.
    Gene; 2021 Mar 01; 771():145360. PubMed ID: 33333218
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