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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

129 related items for PubMed ID: 32002796

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  • 5. 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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  • 6. 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 novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin.
    Mahoney CJ, Dharmadasa T, Huynh W, Halpern JP, Vucic S, Mowat D, Kiernan MC.
    Muscle Nerve; 2020 Jul 24; 62(1):E44-E45. PubMed ID: 32270516
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  • 9. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
    Tzoulis C, Denora PS, Santorelli FM, Bindoff LA.
    J Neurol; 2008 Aug 24; 255(8):1142-4. PubMed ID: 18563470
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  • 13. Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.
    Sambri I, Massa F, Gullo F, Meneghini S, Cassina L, Carraro M, Dina G, Quattrini A, Patanella L, Carissimo A, Iuliano A, Santorelli F, Codazzi F, Grohovaz F, Bernardi P, Becchetti A, Casari G.
    EBioMedicine; 2020 Nov 24; 61():103050. PubMed ID: 33045469
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  • 14. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
    Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.
    Neurology; 2019 Jun 04; 92(23):e2679-e2690. PubMed ID: 31068484
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  • 15. Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.
    López E, Casasnovas C, Giménez J, Matilla-Dueñas A, Sánchez I, Volpini V.
    Neurogenetics; 2015 Apr 04; 16(2):97-105. PubMed ID: 25398481
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  • 18. SPG7 and Impaired Emotional Communication.
    Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T.
    Cerebellum; 2017 Apr 04; 16(2):595-598. PubMed ID: 27557734
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  • 20. 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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