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Journal Abstract Search

572 related items for PubMed ID: 29891058

  • 1. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018; 155():191-203. PubMed ID: 29891058
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 24; 21(6):1073-1084. PubMed ID: 34782953
    [Abstract] [Full Text] [Related]

  • 6. 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 24; 24(7):1016-21. PubMed ID: 26626314
    [Abstract] [Full Text] [Related]

  • 7. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
    Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, SYNAPSE Study GroupSee Document S1 for list of collaborators., Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H.
    Am J Hum Genet; 2017 Jun 01; 100(6):969-977. PubMed ID: 28575651
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 21(10):1243-6. PubMed ID: 26231471
    [Abstract] [Full Text] [Related]

  • 9. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
    Burguêz D, Oliveira CM, Rockenbach MABC, Fussiger H, Vedolin LM, Winckler PB, Maestri MK, Finkelsztejn A, Santorelli FM, Jardim LB, Saute JAM.
    Arq Neuropsiquiatr; 2017 Jun 01; 75(6):339-344. PubMed ID: 28658401
    [Abstract] [Full Text] [Related]

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  • 12. A 30-year history of MPAN case from Russia.
    Selikhova M, Fedotova E, Wiethoff S, Schottlaender LV, Klyushnikov S, Illarioshkin SN, Houlden H.
    Clin Neurol Neurosurg; 2017 Aug 01; 159():111-113. PubMed ID: 28641177
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  • 14. Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
    Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.
    Parkinsonism Relat Disord; 2019 May 01; 62():148-155. PubMed ID: 30638817
    [Abstract] [Full Text] [Related]

  • 15. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
    Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.
    Neurol Neurochir Pol; 2017 May 01; 51(6):481-485. PubMed ID: 28843771
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  • 17. Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady.
    Dubey D, Khemani P, Remster E, Elliott JL.
    JAMA Neurol; 2017 Feb 01; 74(2):238-241. PubMed ID: 27942721
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  • 19. Recessive ataxias.
    Synofzik M, Németh AH.
    Handb Clin Neurol; 2018 Feb 01; 155():73-89. PubMed ID: 29891078
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