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Results: 1 to 20 of 934

1.

Antioxidant strategies in genetic syndromes with high neoplastic risk in infant age.

Anichini C, Lotti F, Longini M, Felici C, Proietti F, Buonocore G.

Tumori. 2014 Nov-Dec;100(6):590-9. doi: 10.1700/1778.19256. Review.

PMID:
25688491
2.

Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.

Vogel AP, Folker J, Poole ML.

Cochrane Database Syst Rev. 2014 Oct 28;10:CD008953. doi: 10.1002/14651858.CD008953.pub2. Review.

PMID:
25348587
3.

From pathways to targets: understanding the mechanisms behind polyglutamine disease.

Weber JJ, Sowa AS, Binder T, Hübener J.

Biomed Res Int. 2014;2014:701758. doi: 10.1155/2014/701758. Epub 2014 Sep 21. Review.

4.

[Genetic, environmental and developmental factors in childhood leukemia].

Mizutani S.

Rinsho Ketsueki. 2014 Oct;55(10):2233-41. Review. Japanese. No abstract available.

PMID:
25297792
5.

RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders.

Wojciechowska M, Olejniczak M, Galka-Marciniak P, Jazurek M, Krzyzosiak WJ.

Nucleic Acids Res. 2014 Oct 29;42(19):11849-64. doi: 10.1093/nar/gku794. Epub 2014 Sep 12. Review.

6.

Genetic cerebellar ataxias.

Storey E.

Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Review.

PMID:
25192506
7.

The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.

Hekman KE, Gomez CM.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):554-61. doi: 10.1136/jnnp-2014-308421. Epub 2014 Aug 18. Review.

PMID:
25136055
8.

DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.

Gilmore EC.

Neurogenetics. 2014 Oct;15(4):217-28. doi: 10.1007/s10048-014-0415-z. Epub 2014 Jul 20. Review.

PMID:
25038946
9.

Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames.

Synofzik M, Ilg W.

Biomed Res Int. 2014;2014:583507. doi: 10.1155/2014/583507. Epub 2014 Apr 27. Review.

10.

Ophthalmic manifestations of inherited neurodegenerative disorders.

Kersten HM, Roxburgh RH, Danesh-Meyer HV.

Nat Rev Neurol. 2014 Jun;10(6):349-62. doi: 10.1038/nrneurol.2014.79. Epub 2014 May 20. Review.

PMID:
24840976
11.

Polyglutamine (PolyQ) diseases: genetics to treatments.

Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ.

Cell Transplant. 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. Review.

PMID:
24816443
12.

Autosomal dominant cerebellar ataxias: a systematic review of clinical features.

Rossi M, Perez-Lloret S, Doldan L, Cerquetti D, Balej J, Millar Vernetti P, Hawkes H, Cammarota A, Merello M.

Eur J Neurol. 2014 Apr;21(4):607-15. Epub 2014 Feb 12. Review.

PMID:
24765663
13.

Beyond the glutamine expansion: influence of posttranslational modifications of ataxin-1 in the pathogenesis of spinocerebellar ataxia type 1.

Ju H, Kokubu H, Lim J.

Mol Neurobiol. 2014 Dec;50(3):866-74. doi: 10.1007/s12035-014-8703-z. Epub 2014 Apr 22. Review.

PMID:
24752589
14.
15.

Radiological imaging in ataxia telangiectasia: a review.

Sahama I, Sinclair K, Pannek K, Lavin M, Rose S.

Cerebellum. 2014 Aug;13(4):521-30. doi: 10.1007/s12311-014-0557-4. Review.

PMID:
24683014
16.

The versatile functions of ATM kinase.

Boohaker RJ, Xu B.

Biomed J. 2014 Jan-Feb;37(1):3-9. doi: 10.4103/2319-4170.125655. Review.

17.

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Cau P, Navarro C, Harhouri K, Roll P, Sigaudy S, Kaspi E, Perrin S, De Sandre-Giovannoli A, Lévy N.

Semin Cell Dev Biol. 2014 May;29:125-47. doi: 10.1016/j.semcdb.2014.03.021. Epub 2014 Mar 22. Review.

PMID:
24662892
18.

Genetics of Huntington's disease and related disorders.

Burgunder JM.

Drug Discov Today. 2014 Jul;19(7):985-9. doi: 10.1016/j.drudis.2014.03.005. Epub 2014 Mar 18. Review.

PMID:
24657309
19.

DNA double-strand break repair in a cellular context.

Shibata A, Jeggo PA.

Clin Oncol (R Coll Radiol). 2014 May;26(5):243-9. doi: 10.1016/j.clon.2014.02.004. Epub 2014 Mar 11. Review.

PMID:
24630811
20.

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.

Ruano L, Melo C, Silva MC, Coutinho P.

Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Review.

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