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progressive myoclonic epilepsy相关文献:
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.
Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23.
PMID:31476531
Drug Treatment of Progressive Myoclonic Epilepsy.
Holmes GL.
Paediatr Drugs. 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y.
PMID:31939107
Progressive myoclonic epilepsy.
Satishchandra P, Sinha S.
Neurol India. 2010 Jul-Aug;58(4):514-22. doi: 10.4103/0028-3886.68660.
PMID:20739785
Progressive myoclonic epilepsy.
Zupanc ML, Legros B.
Cerebellum. 2004;3(3):156-71. doi: 10.1080/14734220410035356.
PMID:15543806
Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Acharya JN, Acharya VJ.
J Clin Neurophysiol. 2023 Feb 1;40(2):100-108. doi: 10.1097/WNP.0000000000000913. Epub 2022 Jun 30.
PMID:36735458
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Narayanan DL, Somashekar PH, Majethia P, Shukla A.
Clin Dysmorphol. 2022 Jan 1;31(1):6-10. doi: 10.1097/MCD.0000000000000394.
PMID:34866617
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y, Fujita A, Torio M, Mukaino T, Sakata A, Matsukura M, Yonemoto K, Hatae K, Ichimiya Y, Chong PF, Ochiai M, Wada Y, Kadoya M, Okamoto N, Murakami Y, Suzuki T, Isobe N, Shigeto H, Matsumoto N, Sakai Y, Ohga S.
Eur J Med Genet. 2024 Feb;67:104895. doi: 10.1016/j.ejmg.2023.104895. Epub 2023 Dec 7.
PMID:38070824
The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.
Bernardi S, Gemignani F, Marchese M.
Neurobiol Dis. 2023 Sep;185:106258. doi: 10.1016/j.nbd.2023.106258. Epub 2023 Aug 11.
PMID:37573956
Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.
Barot N, Margiotta M, Nei M, Skidmore C.
Epileptic Disord. 2020 Oct 1;22(5):654-658. doi: 10.1684/epd.2020.1197.
PMID:32972906
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Sánchez-Iglesias S, Fernández-Pombo A, Araújo-Vilar D.
Neurol Sci. 2021 Apr;42(4):1597-1598. doi: 10.1007/s10072-020-04780-0. Epub 2020 Oct 21.
PMID:33089476
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