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Journal Abstract Search

885 related items for PubMed ID: 26756429

  • 1.
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  • 2. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
    Zhang X, Zhang L, Wu Y, Li G, Chen S, Xia Y, Li H.
    BMC Neurol; 2018 Nov 29; 18(1):196. PubMed ID: 30497413
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  • 3. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.
    Brain; 2012 Oct 29; 135(Pt 10):2980-93. PubMed ID: 23065789
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  • 4. 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 Oct 29; 52(14):1629-33. PubMed ID: 23857099
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  • 5. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
    Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.
    Neurology; 2006 Mar 14; 66(5):654-9. PubMed ID: 16534102
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  • 6. 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 14; 83(3):257-62. PubMed ID: 22571692
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  • 7. 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 14; 135(Pt 10):2994-3004. PubMed ID: 22964162
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  • 8. 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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  • 9. 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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  • 10.
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  • 11. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
    Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B.
    Eur J Hum Genet; 2016 Jul 15; 24(7):1016-21. PubMed ID: 26626314
    [Abstract] [Full Text] [Related]

  • 12. A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.
    Wang S, Wang Y, Wu Y, Zhang J, Zhang W, Li C, Song X.
    BMC Neurol; 2022 May 30; 22(1):200. PubMed ID: 35637455
    [Abstract] [Full Text] [Related]

  • 13. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
    Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM.
    J Neurol Sci; 2016 May 15; 364():116-21. PubMed ID: 27084228
    [Abstract] [Full Text] [Related]

  • 14. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
    De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A.
    Mov Disord; 2019 Oct 15; 34(10):1547-1561. PubMed ID: 31433872
    [Abstract] [Full Text] [Related]

  • 15. Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family.
    Liu Y, Xu J, Tao W, Fu C, Liu J, Yu R, Zhang X.
    Eur Neurol; 2019 Oct 15; 81(1-2):87-93. PubMed ID: 31117107
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  • 17. 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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  • 20. Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
    Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA.
    Eur J Med Genet; 2015 Nov 21; 58(11):573-7. PubMed ID: 26260707
    [Abstract] [Full Text] [Related]

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