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Journal Abstract Search

481 related items for PubMed ID: 28459997

  • 1. 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]

  • 2. 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 01; 267(2):324-330. PubMed ID: 31637490
    [Abstract] [Full Text] [Related]

  • 3. Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
    Fellner A, Lossos A, Kogan E, Argov Z, Gonzaga-Jauregui C, Shuldiner AR, Darawshe M, Bazak L, Lidzbarsky G, Shomron N, Basel-Salmon L, Goldberg Y.
    Clin Genet; 2021 May 01; 99(5):713-718. PubMed ID: 33491183
    [Abstract] [Full Text] [Related]

  • 4. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
    Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, Cirillo M, Cerase A, Natale G, Matrone F, Riso V, Melone MAB, Tessa A, De Michele G, Federico A, Filla A, Dotti MT, Santorelli FM.
    Neurol Sci; 2022 Feb 01; 43(2):1071-1077. PubMed ID: 34296356
    [Abstract] [Full Text] [Related]

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

  • 6. 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 01; 21(6):1073-1084. PubMed ID: 34782953
    [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. 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 01; 83(6):1075-1088. PubMed ID: 29604224
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018 Jan 01; 155():191-203. PubMed ID: 29891058
    [Abstract] [Full Text] [Related]

  • 11. Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.
    Sytsma TM, Chen DH, Rolf B, Dorschner M, Jayadev S, Keene CD, Zhang J, Bird TD, Latimer CS.
    Neuropathology; 2022 Feb 01; 42(1):58-65. PubMed ID: 34753215
    [Abstract] [Full Text] [Related]

  • 12. An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.
    Manibarathi K, Pham T, Hengel H, Synofzik M, Nagel M, Schüle R.
    Stem Cell Res; 2024 Apr 01; 76():103363. PubMed ID: 38437768
    [Abstract] [Full Text] [Related]

  • 13. POLR3A variants in hereditary spastic paraplegia and ataxia.
    Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.
    Brain; 2018 Jan 01; 141(1):e1. PubMed ID: 29228109
    [No Abstract] [Full Text] [Related]

  • 14. 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 01; 22(1):71-79. PubMed ID: 33486633
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
    Minnerop M, Kurzwelly D, Rattay TW, Timmann D, Hengel H, Synofzik M, Stendel C, Horvath R, Schüle R, Ramirez A.
    Brain; 2018 Jan 01; 141(1):e2. PubMed ID: 29236946
    [No Abstract] [Full Text] [Related]

  • 17. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
    Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.
    Eur J Med Genet; 2019 Dec 01; 62(12):103605. PubMed ID: 30572172
    [Abstract] [Full Text] [Related]

  • 18. POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.
    Yau WY, Ashton C, Mulroy E, Foltynie T, Limousin P, Vandrovcova J, Verma KP, Stell R, Davis M, Lamont P.
    Ann Clin Transl Neurol; 2024 Jun 01; 11(6):1636-1642. PubMed ID: 38700104
    [Abstract] [Full Text] [Related]

  • 19. Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
    Lorea CF, Tenório RB, Koenig M, Huebner A, Koehler K, Devos D, Guissart C, Saute JAM.
    Cerebellum; 2020 Jun 01; 19(3):465-468. PubMed ID: 32146693
    [No Abstract] [Full Text] [Related]

  • 20. 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 01; 77():70-75. PubMed ID: 32629324
    [Abstract] [Full Text] [Related]

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