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Elsevier电子期刊(93)

在“Elsevier电子期刊”中，命中：93条，耗时：小于0.01 秒

在所有数据库中总计命中：93条

1.Case report: Homozygous PRRT2 mutation in ICCA Egyptian family with reduced penetrance

作者：Nirmeen A. Kishk^a ; Wessam E. Sharaf-Eldin^b ; ^{wessam_sharafeldin@yahoo.com} ; Heba Saher^c ; Mona Essawi^b

关键词：Infantile seizure ; Paroxysmal choreoathetosis ; Mutation ; PRRT2 gene

刊名：Meta Gene

出版年：2017

2.PRRT2 Is a Key Component of the Ca²⁺-Dependent Neurotransmitter Release Machinery

作者：Pierluigi Valente¹ ; Enrico Castroflorio¹ ; ² ; Pia Rossi¹ ; Manuela Fadda¹ ; Bruno Sterlini¹ ; ² ; Romina Ines Cervigni³ ; Cosimo Prestigio¹ ; ² ; Silvia Giovedì ; ¹ ; Franco Onofri¹ ; Elisa Mura³ ; Fabrizia C. Guarnieri³ ; Antonella Marte¹ ; Marta Orlando² ; Federico Zara⁴ ; Anna Fassio¹ ; ² ; Flavia Valtorta³ ; Pietro Baldelli¹ ; ² ; Anna Corradi¹ ; ⁵ ; Fabio Benfenati¹ ; ² ; ⁵ ; ^{fabio.benfenati@iit.it" class="auth_mail" title="E-mail the corresponding author}

关键词：PRRT2 ; knockdown ; synaptic transmission ; synchronous and asynchronous release ; release probability ; synaptotagmin

刊名：Cell Reports

出版年：2016

3.Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

作者：Ayuko Igarashi^a ; ^{aigara@juntendo.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Akihisa Okumura^b ; Keiko Shimojima^c ; Shinpei Abe^a ; Mitsuru Ikeno^a ; Toshiaki Shimizu^a ; Toshiyuki Yamamoto^c

关键词：PRRT2 mutation ; Down syndrome ; Benign infantile epilepsy ; Epileptic spasms

刊名：Brain and Development

出版年：2016

4.Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

作者：Ilenia Maini ; ^{ilenia.maini@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Alessandro Iodice ; Carlotta Spagnoli ; Grazia Gabriella Salerno ; Gianna Bertani ; Daniele Frattini ; Carlo Fusco

关键词：PRRT2 ; Benign myoclonus of early infancy ; Paroxysmal kinesigenic dyskinesia ; Benign familial infantile epilepsy ; Movement disorders

刊名：European Journal of Paediatric Neurology

出版年：2016

5.PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function

作者：Flavia Valtorta¹ ; ^{valtorta.flavia@hsr.it" class="auth_mail" title="E-mail the corresponding author} ; Fabio Benfenati² ; ³ ; Federico Zara⁴ ; Jacopo Meldolesi¹

关键词：dyskinesia ; epilepsy ; synaptic transmission ; neuronal development ; synaptopathies

刊名：Trends in Neurosciences

出版年：2016

6.Peptide receptor radionuclide therapy of neuroendocrine tumours

作者：Tessa Brabander ; MD^a ; ^{t.brabander@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} (PhD-student) ; Jaap J.M. Teunissen ; MD ; PhD^a ; ^{j.teunissen@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} (Nuclear Medicine Physician) ; Casper H.J. Van Eijck ; MD ; PhD^b ; ^{c.vaneijck@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} (Surgeon) ; Gaston J.H. Franssen ; MD^b ; ^{g.franssen@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} (Surgeon) ; Richard A. Feelders ; MD ; PhD^c ; ^{r.feelders@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} (Endocrinologist) ; Wouter W. de Herder ; MD ; PhD^c ; ^{w.w.deherder@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} (Endocrinologist) ; Dik J. Kwekkeboom ; MD ; PhD^a ; ^{d.j.kwekkeboom@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} (Nuclear Medicine Physician)

关键词：neuroendocrine tumours ; PRRT ; radionuclides ; somatostatin receptor

刊名：Best Practice Research Clinical Endocrinology Metabolism

出版年：2016

7.Dyskinésies paroxystiques kinésigéniques : un début précoce, un diagnostic tardif

作者：Charline Perot ; Emmanuelle Boutin ; ^{emmanuelle.boutin@ap-hm.fr" class="auth_mail" title="E-mail the corresponding author} ; Azulay Jean-Philippe

关键词：Dyskiné ; sies paroxystiques ; Mutation PRRT2 ; Acé ; tazolamide

刊名：Revue Neurologique

出版年：2016

8.Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

作者：Costanza Lamperti^a ; Federica Invernizzi^a ; Roberta Solazzi^b ; Elena Freri^b ; Francesco Carella^c ; Massimo Zeviani^d ; Federica Zibordi^b ; Carlo Fusco^e ; Giovanna Zorzi^b ; Tiziana Granata^b ; Barbara Garavaglia^a ; Nardo Nardocci^b ; ^{nnardocci@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author}

关键词：PRRT2 ; Paroxysmal kinesigenic dyskinesia ; Epilepsy ; Dystonia ; Autosomal dominant

刊名：European Journal of Paediatric Neurology

出版年：2016

9.Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

作者：Noriko Sangu^a ; ^b ; ^{sangu.noriko@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Keiko Shimojima^b ; ^{shimojima.keiko@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Okumura Akihisa^c ; ^{okumura.akihisa.479@mail.aichi-med-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Tomohiro Ando^a ; ^{tando@oms.twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Toshiyuki Yamamoto^b ; ^{yamamoto.toshiyuki@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：Proline-rich transmembrane protein 2 (PRRT2) ; Benign partial epilepsy in infancy (BPEI) ; Benign familial infantile epilepsy (BFIE) ; Paroxysmal kinesigenic dyskinesia (PKD) ; Infantile convulsions and choreoathetosis syndrome (ICCA)

刊名：Epilepsy Research

出版年：2015

10.Physiologically based pharmacokinetic modeling of ¹⁸F-SiFAlin-Asp₃-PEG₁-TATE in AR42J tumor bearing mice

作者：Christian Maaß ; ^a ; ^{cmaass@mit.edu" class="auth_mail" title="E-mail the corresponding author} ; Jose Ricardo Avelar Rivas^a ; Ali Asgar Attarwala^a ; Deni Hardiansyah^a ; Sabrina Niedermoser^b ; Shanna Litau^b ; ^c ; Carmen Wä ; ngler^c ; Bjö ; rn Wä ; ngler^b ; Gerhard Glatting^a

关键词：Physiologically based pharmacokinetic (PBPK) modeling ; Peptide receptor radionuclide therapy (PRRT) ; Neuroendocrine tumor (NET) ; Mice

刊名：Nuclear Medicine and Biology

出版年：2016

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