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Year Number of Results
1981 1
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1987 1
1988 1
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1991 7
1992 7
1993 12
1994 8
1995 23
1996 13
1997 14
1998 10
1999 24
2000 13
2001 15
2002 25
2003 16
2004 16
2005 12
2006 10
2007 14
2008 9
2009 12
2010 10
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409 results

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Page 1
Epilepsy in neurodegenerative diseases.
Neri S, Mastroianni G, Gardella E, Aguglia U, Rubboli G. Neri S, et al. Epileptic Disord. 2022 Apr 1;24(2):249-273. doi: 10.1684/epd.2021.1406. Epileptic Disord. 2022. PMID: 35596580 Review.
In this seminar, we provide an updated overview of the clinical features, pathophysiological mechanisms and diagnostic and treatment approaches of epilepsy in the most common neurodegenerative disorders (such as Alzheimer disease and other types of dementia, Parkinson disease, Do …
In this seminar, we provide an updated overview of the clinical features, pathophysiological mechanisms and diagnostic and treatment approac …
Pathogenesis of SCA3 and implications for other polyglutamine diseases.
McLoughlin HS, Moore LR, Paulson HL. McLoughlin HS, et al. Neurobiol Dis. 2020 Feb;134:104635. doi: 10.1016/j.nbd.2019.104635. Epub 2019 Oct 24. Neurobiol Dis. 2020. PMID: 31669734 Free PMC article. Review.
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17). ...
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bu …
Polyglutamine (PolyQ) diseases: genetics to treatments.
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ. Fan HC, et al. Cell Transplant. 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. Cell Transplant. 2014. PMID: 24816443 Free article. Review.
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular …
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease …
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P. Orsini A, et al. Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23. Seizure. 2019. PMID: 31476531 Free PMC article. Review.
Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. ...The response to therapy may initial
Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characteris
Dentatorubral-pallidoluysian Atrophy: An Update.
Carroll LS, Massey TH, Wardle M, Peall KJ. Carroll LS, et al. Tremor Other Hyperkinet Mov (N Y). 2018 Oct 1;8:577. doi: 10.7916/D81N9HST. eCollection 2018. Tremor Other Hyperkinet Mov (N Y). 2018. PMID: 30410817 Free PMC article. Review.
BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. ...Other cited articles or research from related fields gave a further 42 articles, produci …
BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characteriz …
Dentatorubral-pallidoluysian atrophy.
Tsuji S. Tsuji S. Handb Clin Neurol. 2012;103:587-94. doi: 10.1016/B978-0-444-51892-7.00041-3. Handb Clin Neurol. 2012. PMID: 21827919 Review.
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder clinically characterized by various combinations of cerebellar ataxia, choreoathetosis, myoclonus, epilepsy, dementia, and psychiatric symptoms. ...
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder clinically charact
Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclo
Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis mult …
Spinocerebellar ataxias.
Soong BW, Morrison PJ. Soong BW, et al. Handb Clin Neurol. 2018;155:143-174. doi: 10.1016/B978-0-444-64189-2.00010-X. Handb Clin Neurol. 2018. PMID: 29891056 Review.
In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency a …
In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight …
Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.
Nowak B, Kozlowska E, Pawlik W, Fiszer A. Nowak B, et al. Mov Disord. 2023 Apr;38(4):526-536. doi: 10.1002/mds.29355. Epub 2023 Feb 21. Mov Disord. 2023. PMID: 36809552 Review.
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, incurable genetic disease that belongs to the group of polyglutamine (polyQ) diseases. ...
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, incurable genetic disease that belongs to the group of polyglut
Dentatorubral pallidoluysian atrophy.
Rajput A. Rajput A. Handb Clin Neurol. 2011;100:153-9. doi: 10.1016/B978-0-444-52014-2.00008-2. Handb Clin Neurol. 2011. PMID: 21496575 Review. No abstract available.
409 results