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Journal Abstract Search

354 related items for PubMed ID: 34251556

  • 1. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
    Gatti M, Magri S, Di Bella D, Sarto E, Taroni F, Mariotti C, Nanetti L.
    Neurol Sci; 2021 Nov; 42(11):4741-4745. PubMed ID: 34251556
    [Abstract] [Full Text] [Related]

  • 2. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.
    Cioffi E, Coppola G, Musumeci O, Gallone S, Silvestri G, Rossi S, Piemonte F, D'Amico J, Tessa A, Santorelli FM, Casali C.
    Neurogenetics; 2024 Apr; 25(2):51-67. PubMed ID: 38334933
    [Abstract] [Full Text] [Related]

  • 3. Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.
    Kloth K, Cozma C, Bester M, Gerloff C, Biskup S, Zittel S.
    Eur J Med Genet; 2020 Sep; 63(9):103992. PubMed ID: 32590105
    [Abstract] [Full Text] [Related]

  • 4. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
    Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
    Brain; 2017 Jun 01; 140(6):1561-1578. PubMed ID: 28459997
    [Abstract] [Full Text] [Related]

  • 5. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan 01; 78(1):13-22. PubMed ID: 24252062
    [Abstract] [Full Text] [Related]

  • 6. A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report.
    Nakamura-Shindo K, Ono K, Koh K, Ishiura H, Tsuji S, Takiyama Y, Yamada M.
    eNeurologicalSci; 2020 Jun 01; 19():100238. PubMed ID: 32280793
    [Abstract] [Full Text] [Related]

  • 7. Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
    Lai LL, Chen YJ, Li YL, Lin XH, Wang MW, Dong EL, Wang N, Chen WJ, Lin X.
    Ann Clin Transl Neurol; 2020 Oct 01; 7(10):1862-1869. PubMed ID: 32860341
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 52(14):1629-33. PubMed ID: 23857099
    [Abstract] [Full Text] [Related]

  • 9. Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
    Malekkou A, Samarani M, Drousiotou A, Votsi C, Sonnino S, Pantzaris M, Chiricozzi E, Zamba-Papanicolaou E, Aureli M, Loberto N, Christodoulou K.
    Int J Mol Sci; 2018 Oct 10; 19(10):. PubMed ID: 30308956
    [Abstract] [Full Text] [Related]

  • 10. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
    Citterio A, Arnoldi A, Panzeri E, D'Angelo MG, Filosto M, Dilena R, Arrigoni F, Castelli M, Maghini C, Germiniasi C, Menni F, Martinuzzi A, Bresolin N, Bassi MT.
    J Neurol; 2014 Feb 10; 261(2):373-81. PubMed ID: 24337409
    [Abstract] [Full Text] [Related]

  • 11. POLR3A-related spastic ataxia: new mutations and a look into the phenotype.
    Infante J, Serrano-Cárdenas KM, Corral-Juan M, Farré X, Sánchez I, de Lucas EM, García A, Martín-Gurpegui JL, Berciano J, Matilla-Dueñas A.
    J Neurol; 2020 Feb 10; 267(2):324-330. PubMed ID: 31637490
    [Abstract] [Full Text] [Related]

  • 12. A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
    Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A.
    J Neurol; 2023 Oct 10; 270(10):5057-5063. PubMed ID: 37418012
    [Abstract] [Full Text] [Related]

  • 13. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
    Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G.
    Neurogenetics; 2021 Mar 10; 22(1):71-79. PubMed ID: 33486633
    [Abstract] [Full Text] [Related]

  • 14. Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.
    Woeste MA, Stern S, Raju DN, Grahn E, Dittmann D, Gutbrod K, Dörmann P, Hansen JN, Schonauer S, Marx CE, Hamzeh H, Körschen HG, Aerts JMFG, Bönigk W, Endepols H, Sandhoff R, Geyer M, Berger TK, Bradke F, Wachten D.
    J Biol Chem; 2019 Mar 15; 294(11):3853-3871. PubMed ID: 30662006
    [Abstract] [Full Text] [Related]

  • 15. Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
    Sultana S, Reichbauer J, Schüle R, Mochel F, Synofzik M, van der Spoel AC.
    Biochem Biophys Res Commun; 2015 Sep 11; 465(1):35-40. PubMed ID: 26220345
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
    Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J.
    Parkinsonism Relat Disord; 2020 Aug 30; 77():70-75. PubMed ID: 32629324
    [Abstract] [Full Text] [Related]

  • 18. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
    Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.
    Ann Neurol; 2018 Jun 30; 83(6):1075-1088. PubMed ID: 29604224
    [Abstract] [Full Text] [Related]

  • 19. A Diagnostic Approach to Spastic ataxia Syndromes.
    Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP.
    Cerebellum; 2022 Dec 30; 21(6):1073-1084. PubMed ID: 34782953
    [Abstract] [Full Text] [Related]

  • 20. SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.
    Pedroso JL, de Souza PV, Pinto WB, Braga-Neto P, Albuquerque MV, Saraiva-Pereira ML, Jardim LB, Barsottini OG.
    Parkinsonism Relat Disord; 2015 Oct 30; 21(10):1243-6. PubMed ID: 26231471
    [Abstract] [Full Text] [Related]

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