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Items: 1 to 20 of 64

1.

Medical management of epileptic seizures: challenges and solutions.

Sarma AK, Khandker N, Kurczewski L, Brophy GM.

Neuropsychiatr Dis Treat. 2016 Feb 24;12:467-85. doi: 10.2147/NDT.S80586. eCollection 2016. Review.

2.

Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy.

Sone D, Sato N, Yokoyama K, Sumida K, Kanai M, Imabayashi E, Saito Y, Matsuda H.

J Neurol Sci. 2016 Jan 15;360:121-4. doi: 10.1016/j.jns.2015.12.002. Epub 2015 Dec 3.

PMID:
26723987
3.

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

Paradisi I, Ikonomu V, Arias S.

J Hum Genet. 2016 Mar;61(3):215-22. doi: 10.1038/jhg.2015.131. Epub 2015 Nov 5.

PMID:
26538302
4.

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.

Romano S, Coarelli G, Marcotulli C, Leonardi L, Piccolo F, Spadaro M, Frontali M, Ferraldeschi M, Vulpiani MC, Ponzelli F, Salvetti M, Orzi F, Petrucci A, Vanacore N, Casali C, Ristori G.

Lancet Neurol. 2015 Oct;14(10):985-91. doi: 10.1016/S1474-4422(15)00201-X. Epub 2015 Aug 25.

PMID:
26321318
5.

The progressive myoclonic epilepsies.

Malek N, Stewart W, Greene J.

Pract Neurol. 2015 Jun;15(3):164-71. doi: 10.1136/practneurol-2014-000994. Epub 2015 Feb 26. Review.

PMID:
25720773
6.

Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance.

Zhang F, Xu D, Yuan L, Sun Y, Xu Z.

Nat Commun. 2014 Dec 18;5:5815. doi: 10.1038/ncomms6815.

7.

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O.

Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13.

PMID:
24418350
8.

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.

Veneziano L, Mantuano E, Catalli C, Gellera C, Durr A, Romano S, Spadaro M, Frontali M, Novelletto A.

J Hum Genet. 2014 Mar;59(3):153-7. doi: 10.1038/jhg.2013.137. Epub 2014 Jan 9.

PMID:
24401908
9.

DRPLA: recent advances in research using transgenic mouse models.

Suzuki K, Sato T, Yamada M, Takahashi H, Tsuji S.

Methods Mol Biol. 2013;1010:277-92. doi: 10.1007/978-1-62703-411-1_18.

PMID:
23754232
10.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

11.

Autophagy-related proteins (p62, NBR1 and LC3) in intranuclear inclusions in neurodegenerative diseases.

Mori F, Tanji K, Odagiri S, Toyoshima Y, Yoshida M, Kakita A, Takahashi H, Wakabayashi K.

Neurosci Lett. 2012 Aug 1;522(2):134-8. doi: 10.1016/j.neulet.2012.06.026. Epub 2012 Jun 19.

PMID:
22728060
12.

Amyotrophic lateral sclerosis and riluzole use during pregnancy: a case report.

Scalco RS, Vieira MC, da Cunha Filho EV, Lago EG, da Silva IG, Becker J.

Amyotroph Lateral Scler. 2012 Sep;13(5):471-2. doi: 10.3109/17482968.2012.673171. Epub 2012 Jun 7. No abstract available.

PMID:
22670879
13.

Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.

Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y.

J Neurol. 2012 Nov;259(11):2329-34. doi: 10.1007/s00415-012-6493-7. Epub 2012 Apr 18.

PMID:
22527233
14.

DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles.

Suzuki K, Zhou J, Sato T, Takao K, Miyagawa T, Oyake M, Yamada M, Takahashi H, Takahashi Y, Goto J, Tsuji S.

Neurobiol Dis. 2012 May;46(2):336-50. doi: 10.1016/j.nbd.2012.01.014. Epub 2012 Feb 8.

PMID:
22342974
15.

Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington's, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease.

Mori F, Tanji K, Toyoshima Y, Yoshida M, Kakita A, Takahashi H, Wakabayashi K.

Acta Neuropathol. 2012 May;123(5):747-9. doi: 10.1007/s00401-012-0956-x. Epub 2012 Feb 9. No abstract available.

PMID:
22318854
16.

Dentatorubral-pallidoluysian atrophy.

Tsuji S.

Handb Clin Neurol. 2012;103:587-94. doi: 10.1016/B978-0-444-51892-7.00041-3. Review.

PMID:
21827919
17.

Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length.

Hasegawa A, Ikeuchi T, Koike R, Matsubara N, Tsuchiya M, Nozaki H, Homma A, Idezuka J, Nishizawa M, Onodera O.

Mov Disord. 2010 Aug 15;25(11):1694-700. doi: 10.1002/mds.23167.

PMID:
20589872
18.

Riluzole use during pregnancy in a patient with amyotrophic lateral sclerosis: a case report.

Kawamichi Y, Makino Y, Matsuda Y, Miyazaki K, Uchiyama S, Ohta H.

J Int Med Res. 2010 Mar-Apr;38(2):720-6.

PMID:
20515588
19.

Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review.

Wardle M, Morris HR, Robertson NP.

Mov Disord. 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. Review.

PMID:
19514013
20.

Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.

Sato T, Miura M, Yamada M, Yoshida T, Wood JD, Yazawa I, Masuda M, Suzuki T, Shin RM, Yau HJ, Liu FC, Shimohata T, Onodera O, Ross CA, Katsuki M, Takahashi H, Kano M, Aosaki T, Tsuji S.

Hum Mol Genet. 2009 Feb 15;18(4):723-36. doi: 10.1093/hmg/ddn403. Epub 2008 Nov 27.

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