These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

113 related items for PubMed ID: 28966590

  • 41. Epilepsy in Tubulinopathy: Personal Series and Literature Review.
    Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R.
    Cells; 2019 Jul 02; 8(7):. PubMed ID: 31269740
    [Abstract] [Full Text] [Related]

  • 42.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 43.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 44.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 45. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
    Kancheva D, Chamova T, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Tournev I, Jordanova A.
    Mov Disord; 2015 May 02; 30(6):854-8. PubMed ID: 25772097
    [Abstract] [Full Text] [Related]

  • 46.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 47. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
    Carecchio M, Mencacci NE, Iodice A, Pons R, Panteghini C, Zorzi G, Zibordi F, Bonakis A, Dinopoulos A, Jankovic J, Stefanis L, Bhatia KP, Monti V, R'Bibo L, Veneziano L, Garavaglia B, Fusco C, Wood N, Stamelou M, Nardocci N.
    Parkinsonism Relat Disord; 2017 Aug 02; 41():37-43. PubMed ID: 28511835
    [Abstract] [Full Text] [Related]

  • 48. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
    Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A.
    Hum Mol Genet; 2017 Nov 15; 26(22):4506-4518. PubMed ID: 28973395
    [Abstract] [Full Text] [Related]

  • 49.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 50. Phenotypic features of myoclonus-dystonia in three kindreds.
    Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM.
    Neurology; 2002 Oct 22; 59(8):1187-96. PubMed ID: 12391346
    [Abstract] [Full Text] [Related]

  • 51. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
    Kosfeld A, Kreuzer M, Daniel C, Brand F, Schäfer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Bräsen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG.
    Hum Genet; 2016 Jan 22; 135(1):69-87. PubMed ID: 26572137
    [Abstract] [Full Text] [Related]

  • 52.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 53.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 54. Myoclonus-dystonia syndrome.
    Nardocci N.
    Handb Clin Neurol; 2011 Jan 22; 100():563-75. PubMed ID: 21496608
    [Abstract] [Full Text] [Related]

  • 55.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 56.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 57. Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.
    Klingelhoefer L, Misbahuddin A, Jawad T, Mellers J, Jarosz J, Weeks R, Ray Chaudhuri K.
    Pediatr Neurol; 2014 Jul 22; 51(1):157-64. PubMed ID: 24938145
    [Abstract] [Full Text] [Related]

  • 58. Dystonia-plus syndromes.
    Asmus F, Gasser T.
    Eur J Neurol; 2010 Jul 22; 17 Suppl 1():37-45. PubMed ID: 20590807
    [Abstract] [Full Text] [Related]

  • 59. Tubulinopathies.
    Gonçalves FG, Freddi TAL, Taranath A, Lakshmanan R, Goetti R, Feltrin FS, Mankad K, Teixeira SR, Hanagandi PB, Arrigoni F.
    Top Magn Reson Imaging; 2018 Dec 22; 27(6):395-408. PubMed ID: 30516692
    [Abstract] [Full Text] [Related]

  • 60. A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.
    Szubiga M, Rudzińska M, Bik-Multanowski M, Pietrzyk JJ, Szczudlik A.
    Neurol Res; 2013 Jul 22; 35(6):659-62. PubMed ID: 23561547
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 6.