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Journal Abstract Search

191 related items for PubMed ID: 34500365

  • 1. Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
    Baviera-Muñoz R, Campins-Romeu M, Carretero-Vilarroig L, Sastre-Bataller I, Martínez-Torres I, Vázquez-Costa JF, Muelas N, Sevilla T, Vílchez JJ, Aller E, Jaijo T, Bataller L, Espinós C.
    J Neurol Sci; 2021 Oct 15; 429():118062. PubMed ID: 34500365
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  • 5. Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
    Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z.
    Mov Disord; 2021 Jul 15; 36(7):1664-1675. PubMed ID: 33598982
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  • 7. Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
    Bogdanova-Mihaylova P, Chen H, Plapp HM, Gorman C, Alexander MD, McHugh JC, Moran S, Early A, Cassidy L, Lynch T, Murphy SM, Walsh RA.
    J Neurol; 2021 Oct 15; 268(10):3897-3907. PubMed ID: 33774748
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  • 8. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
    Seo Y, Lim HT, Lee BJ, Han J.
    Am J Med Genet A; 2023 Feb 15; 191(2):582-585. PubMed ID: 36367250
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  • 9. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
    van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP.
    Brain; 2012 Oct 15; 135(Pt 10):2994-3004. PubMed ID: 22964162
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  • 12. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
    Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A.
    Eur J Neurol; 2019 Jan 15; 26(1):80-86. PubMed ID: 30098094
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  • 17. 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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  • 18. 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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  • 19. SPG7 and Impaired Emotional Communication.
    Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T.
    Cerebellum; 2017 Apr 24; 16(2):595-598. PubMed ID: 27557734
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  • 20. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
    Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V, Genetics of Spastic Paraplegia study group.
    Clin Genet; 2013 Mar 24; 83(3):257-62. PubMed ID: 22571692
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