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Year Number of Results
1981 1
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1987 1
1988 1
1989 1
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
2011 10
2012 17
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2014 10
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2016 21
2017 8
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2019 12
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2022 10
2023 3

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401 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 Free article. 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 …
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 …
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 …
Biochemical and clinical aspects of glycogen storage diseases.
Ellingwood SS, Cheng A. Ellingwood SS, et al. J Endocrinol. 2018 Sep;238(3):R131-R141. doi: 10.1530/JOE-18-0120. Epub 2018 Jun 6. J Endocrinol. 2018. PMID: 29875163 Free PMC article. Review.
Finally, we briefly discuss an aspect of glycogen metabolism related to the maintenance of its structure that seems to be gaining more recent attention. For example, in Lafora progressive myoclonus epilepsy, patients exhibit an accumulation of inclusion bodies in several t …
Finally, we briefly discuss an aspect of glycogen metabolism related to the maintenance of its structure that seems to be gaining more recen …
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 …
Epilepsy in children.
Arnold ST, Dodson WE. Arnold ST, et al. Baillieres Clin Neurol. 1996 Dec;5(4):783-802. Baillieres Clin Neurol. 1996. PMID: 9068881 Review.
Childhood epilepsies comprise a broad range of disorders which vary from benign to progressive and disabling. ...Epilepsy surgery should be considered for some children with intractible partial seizures. Generalized epilepsies also have a broader spectrum in …
Childhood epilepsies comprise a broad range of disorders which vary from benign to progressive and disabling. ...Epilepsy surg …
Lafora disease - from pathogenesis to treatment strategies.
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Nitschke F, et al. Nat Rev Neurol. 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. Nat Rev Neurol. 2018. PMID: 30143794 Free PMC article. Review.
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. ...
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy …
Lafora disease: Current biology and therapeutic approaches.
Mitra S, Gumusgoz E, Minassian BA. Mitra S, et al. Rev Neurol (Paris). 2022 Apr;178(4):315-325. doi: 10.1016/j.neurol.2021.06.006. Epub 2021 Jul 21. Rev Neurol (Paris). 2022. PMID: 34301405 Free PMC article. Review.
Infantile, Childhood, and Adolescent Epilepsies.
Wirrell E. Wirrell E. Continuum (Minneap Minn). 2016 Feb;22(1 Epilepsy):60-93. doi: 10.1212/CON.0000000000000269. Continuum (Minneap Minn). 2016. PMID: 26844731 Review.
PURPOSE OF REVIEW: Infantile, childhood, and adolescent epilepsies comprise a diverse group of entities. Careful characterization of epilepsy into a specific electroclinical syndrome or etiology assists greatly in understanding both the natural history of the seizure disor …
PURPOSE OF REVIEW: Infantile, childhood, and adolescent epilepsies comprise a diverse group of entities. Careful characterization of …
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 …
401 results