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192 related items for PubMed ID: 31068484

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 04; 135(Pt 10):2980-93. PubMed ID: 23065789
    [Abstract] [Full Text] [Related]

  • 3. 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 04; 26(1):80-86. PubMed ID: 30098094
    [Abstract] [Full Text] [Related]

  • 4. 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 04; 135(Pt 10):2994-3004. PubMed ID: 22964162
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 268(10):3897-3907. PubMed ID: 33774748
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
    Roxburgh RH, Marquis-Nicholson R, Ashton F, George AM, Lea RA, Eccles D, Mossman S, Bird T, van Gassen KL, Kamsteeg EJ, Love DR.
    J Neurol; 2013 May 15; 260(5):1286-94. PubMed ID: 23269439
    [Abstract] [Full Text] [Related]

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  • 11. 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 15; 23(4):763-71. PubMed ID: 26756429
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 Jul 24; 81(1-2):87-93. PubMed ID: 31117107
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
    Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A, SPATAX network.
    Brain; 2017 Jun 01; 140(6):1579-1594. PubMed ID: 28444220
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 24(7):1016-21. PubMed ID: 26626314
    [Abstract] [Full Text] [Related]

  • 18. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
    Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C.
    PLoS One; 2014 Jul 01; 9(1):e86340. PubMed ID: 24466038
    [Abstract] [Full Text] [Related]

  • 19. SPG7 and Impaired Emotional Communication.
    Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T.
    Cerebellum; 2017 Apr 01; 16(2):595-598. PubMed ID: 27557734
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 36(7):1664-1675. PubMed ID: 33598982
    [Abstract] [Full Text] [Related]

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