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Elsevier电子期刊(158)

在“Elsevier电子期刊”中，命中：158条，耗时：0.011996 秒

在所有数据库中总计命中：201条

1.Efficacy and tolerability of perampanel in ten patients with Lafora disease

作者：Danielle Goldsmith^a ; ^b ; Berge A. Minassian^b ; ^c ; ^{berge.minassian@sickkids.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：Lafora disease ; Progressive myoclonus epilepsy ; Perampanel ; Antiepileptic

刊名：Epilepsy & Behavior

出版年：2016

2.FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy

作者：Navodita Jain ; Rohit Mishra ; Subramaniam Ganesh ; ^{sganesh@iitk.ac.in" class="auth_mail" title="E-mail the corresponding author}

关键词：Transcriptional regulation ; Post-translational modification ; Autophagy ; Neurodegeneration ; Epilepsy

刊名：Biochemical and Biophysical Research Communications

出版年：2016

3.GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study

关键词：Progressive myoclonus epilepsy ; Oxidative stress ; Glutathione S-transferases ; Risk

刊名：Seizure

出版年：2015

4.Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review

作者：Roberta Opri^a ; ^{roberta.opri@univr.it" class="auth_mail" title="E-mail the corresponding author} ; Gian Maria Fabrizi^b ; Gaetano Cantalupo^a ; Moreno Ferrarini^b ; Alessandro Simonati^c ; Bernardo Dalla Bernardina^a ; Francesca Darra^a

关键词：EEG ; BSCL2 ; Berardinelli&ndash ; Seip ; Seipin

刊名：Seizure

出版年：2016

5.Macular cherry red spot is an important diagnostic marker in children with myoclonic epilepsies

作者：Minal V. Kekatpure^a ; ¹ ; K.P. Vinayan^a ; ^{vinayankp@aims.amrita.edu} ; Sheela Nampoothiri^b ; Gopal Pillai^c ; Anand Kumar^d

关键词：Cherry red spot ; Symptomatic myoclonus ; Gangliosidosis ; Sialidosis

刊名：International Journal of Epilepsy

出版年：2016

6.Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan

作者：Yu Katata^a ; Mitsugu Uematsu^a ; ^{uematsu@bk9.so-net.ne.jp" class="auth_mail" title="E-mail the corresponding author} ; Hiroki Sato^a ; Sato Suzuki^a ; Tojo Nakayama^a ; Yuki Kubota^a ; Tomoko Kobayashi^a ; Naomi Hino-Fukuyo^a ; Hirotomo Saitsu^b ; Shigeo Kure^a

关键词：Late infantile neuronal ceroid lipofuscinosis ; CLN8 ; Whole-exome sequence ; Progressive myoclonic epilepsy

刊名：Brain and Development

出版年：2016

7.Add-on perampanel in Lance-Adams syndrome

作者：Bernhard J. Steinhoff ; ^{bsteinhoff@epilepsiezentrum.de" class="auth_mail" title="E-mail the corresponding author} ; Matthias Bacher ; Christoph Kurth ; Anke M. Staack ; Reinhold Kornmeier

关键词：Perampanel ; Myoclonus ; Lance&ndash ; Adams syndrome ; Efficacy

刊名：Epilepsy & Behavior Case Reports

出版年：2016

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

作者：Daichi Sone^a ; ^b ; Noriko Sato^a ; ^{snoriko@ncnp.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Kota Yokoyama^a ; Kaoru Sumida^a ; Masahiro Kanai^c ; Etsuko Imabayashi^d ; Yuko Saito^e ; Hiroshi Matsuda^d

关键词：DRPLA ; FDG-PET ; Progressive myoclonus epilepsy ; Striatal hypometabolism ; Functional neuroimaging

刊名：Journal of the Neurological Sciences

出版年：2016

9.Long-term evolution of EEG in Unverricht-Lundborg disease

作者：Amina Gargouri-Berrechid^a ; ^b ; Amina Nasri^a ; Imen Kacem^a ; ^b ; Youssef Sidhom^a ; ^b ; Istabrak Abdelkefi^a ; Yosr Hizem^a ; Mouna Ben Djebrara^a ; ^b ; Riadh Gouider^a ; ^b ; ^{riadh.gouider@gnet.tn" class="auth_mail" title="E-mail the corresponding author}

关键词：Electroencephalography ; Epilepsy ; Long-term evolution ; Myoclonus ; Unverricht-Lundborg disease

刊名：Neurophysiologie Clinique / Clinical Neurophysiology

出版年：2016

10.First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations

作者：Ryo Sato^a ; ^b ; ^{rsato@ped.med.tohoku.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Takehiko Inui^a ; Wakaba Endo^a ; Yukimune Okubo^a ; ^b ; Yusuke Takezawa^a ; ^b ; Mai Anzai^a ; Hiroyuki Morita^c ; Hirotomo Saitsu^d ; Naomichi Matsumoto^d ; Kazuhiro Haginoya^a

关键词：Late infantile neuronal ceroid lipofudcinosis ; CLN6 ; Whole-exome sequencing

刊名：Brain and Development

出版年：2016

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