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Journal Abstract Search

481 related items for PubMed ID: 28459997

  • 21.
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  • 22. Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
    Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K.
    Sci Rep; 2014 Nov 24; 4():7132. PubMed ID: 25417924
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  • 23. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
    Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR.
    Eur J Med Genet; 2020 May 24; 63(5):103868. PubMed ID: 32004679
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  • 25. Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
    Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.
    Hum Mol Genet; 2018 Jun 01; 27(11):1892-1904. PubMed ID: 29547997
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  • 26. 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 01; 42(11):4741-4745. PubMed ID: 34251556
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  • 27. 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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  • 28.
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  • 29. SYNE1-ataxia: Novel genotypic and phenotypic findings.
    Indelicato E, Nachbauer W, Fauth C, Krabichler B, Schossig A, Eigentler A, Dichtl W, Wenning G, Wagner M, Fanciulli A, Janecke A, Boesch S.
    Parkinsonism Relat Disord; 2019 May 21; 62():210-214. PubMed ID: 30573412
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  • 30. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
    de Freitas JL, Rezende Filho FM, Sallum JMF, França MC, Pedroso JL, Barsottini OGP.
    J Neurol Sci; 2020 Feb 15; 409():116620. PubMed ID: 31865189
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  • 31.
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  • 32. 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 15; 270(10):5057-5063. PubMed ID: 37418012
    [Abstract] [Full Text] [Related]

  • 33. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
    Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P.
    Cerebellum; 2015 Jun 15; 14(3):378-81. PubMed ID: 25592071
    [No Abstract] [Full Text] [Related]

  • 34. 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 15; 7(10):1862-1869. PubMed ID: 32860341
    [Abstract] [Full Text] [Related]

  • 35. Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.
    Holla VV, Surisetti BK, Prasad S, Pal PK.
    Parkinsonism Relat Disord; 2021 Jun 15; 87():22-24. PubMed ID: 33933852
    [Abstract] [Full Text] [Related]

  • 36. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
    Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK, Genomics England Research Consortium, Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H.
    Genet Med; 2022 Oct 15; 24(10):2079-2090. PubMed ID: 35986737
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  • 37. Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
    Synofzik M, Schüle R.
    Mov Disord; 2017 Mar 15; 32(3):332-345. PubMed ID: 28195350
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  • 39.
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  • 40. Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.
    Ruggiero L, Iovino A, Dubbioso R, Cocozza S, Trovato R, Aruta F, Pontillo G, Barghigiani M, Brunetti A, Santorelli FM, Manganelli F, Iodice R.
    Ann Clin Transl Neurol; 2020 Nov 15; 7(11):2326-2331. PubMed ID: 33085208
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