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progressive myoclonic epilepsy相关文献:
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
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P.
Epilepsia. 2024 Mar;65(3):709-724. doi: 10.1111/epi.17880. Epub 2024 Jan 17.
PMID:38231304
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
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.
Zimmern V, Minassian B.
Genes (Basel). 2024 Jan 27;15(2):171. doi: 10.3390/genes15020171.
PMID:38397161
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
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
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