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Journal Abstract Search

386 related items for PubMed ID: 30497413

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  • 4. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
    Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.
    Neurology; 2007 Jul 24; 69(4):368-75. PubMed ID: 17646629
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  • 5. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
    Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
    Intern Med; 2013 Jul 24; 52(14):1629-33. PubMed ID: 23857099
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  • 7. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM.
    Eur J Neurol; 2016 Apr 24; 23(4):763-71. PubMed ID: 26756429
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  • 12. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
    Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M.
    Int J Mol Sci; 2015 Oct 21; 16(10):25050-66. PubMed ID: 26506339
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  • 14. A case report of SPG11 mutations in a Chinese ARHSP-TCC family.
    Zhang L, McFarland KN, Jiao J, Jiao Y.
    BMC Neurol; 2016 Jun 03; 16():87. PubMed ID: 27256065
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  • 18. SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
    Osmanovic A, Widjaja M, Förster A, Weder J, Wattjes MP, Lange I, Sarikidi A, Auber B, Raab P, Christians A, Preller M, Petri S, Weber RG.
    J Neurol; 2020 Sep 03; 267(9):2732-2743. PubMed ID: 32447552
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  • 19. Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family.
    Mao F, Bao M, Fan Y, Zhu M, Li X.
    Acta Neurol Belg; 2020 Dec 03; 120(6):1453-1455. PubMed ID: 32002796
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  • 20. A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
    Warnecke T, Duning T, Schirmacher A, Mohammadi S, Schwindt W, Lohmann H, Dziewas R, Deppe M, Ringelstein EB, Young P.
    Mov Disord; 2010 Mar 15; 25(4):413-20. PubMed ID: 20108356
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