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内部出版物
SpringerLink电子期刊(20)
Elsevier电子期刊(32)
在“
Elsevier电子期刊
”中,
命中:
32
条,耗时:小于0.01 秒
在所有数据库中总计命中:
52
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 Ca
2+
-Dependent Neurotransmitter Release Machinery
作者:
Pierluigi Valente
1
;
Enrico Castroflorio
1
;
2
;
Pia Rossi
1
;
Manuela Fadda
1
;
Bruno Sterlini
1
;
2
;
Romina Ines Cervigni
3
;
Cosimo Prestigio
1
;
2
;
Silvia Giovedì
;
1
;
Franco Onofri
1
;
Elisa Mura
3
;
Fabrizia C. Guarnieri
3
;
Antonella Marte
1
;
Marta Orlando
2
;
Federico Zara
4
;
Anna Fassio
1
;
2
;
Flavia Valtorta
3
;
Pietro Baldelli
1
;
2
;
Anna Corradi
1
;
5
;
Fabio Benfenati
1
;
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.
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
4.
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
5.
PRRT2
: from Paroxysmal Disorders to Regulation of Synaptic Function
作者:
Flavia Valtorta
1
;
valtorta.flavia@hsr.it" class="auth_mail" title="E-mail the corresponding author
;
Fabio Benfenati
2
;
3
;
Federico Zara
4
;
Jacopo Meldolesi
1
关键词:
dyskinesia
;
epilepsy
;
synaptic transmission
;
neuronal development
;
synaptopathies
刊名:Trends in Neurosciences
出版年:2016
6.
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
7.
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
8.
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
9.
Lamotrigine monotherapy for paroxysmal kinesigenic dyskinesia in children
作者:
Feng Li
;
lilifefe@163.com" class="auth_mail" title="E-mail the corresponding author
;
Zhong-dong Lin
;
Ying Hu
;
Wei Li
;
Chao-chao Xue
;
Neha D. Poonit
关键词:
BFIE
;
benign familial infantile epilepsy
;
BFNE
;
benign familial neonatal epilepsy
;
CBZ
;
carbamazepine
;
CwG
;
convulsions with gastroenteritis
;
EEG
;
electroencephalography
;
HM
;
families with hemiplegic migraine
;
ICCA
;
infantile convulsions with choreoathetosis
;
LTG
;
lamotrigine
;
OXC
;
oxcarbazepine
;
PKD
;
paroxysmal kinesigenic dyskinesia
;
PRRT2
;
proline-rich transmembrane protein 2
刊名:Seizure
出版年:2016
10.
Genetic insights into migraine and glutamate: a protagonist driving the headache
作者:
Claudia F. Gasparini
a
;
Robert A. Smith
b
;
Lyn R. Griffiths
b
;
lyn.griffiths@qut.edu.au" class="auth_mail" title="E-mail the corresponding author
关键词:
Migraine
;
Migraine with aura
;
Migraine without aura
;
Glutamate
;
PRRT2
;
GRIA1
;
Cortical spreading depression
;
RNA editing
;
GWAS
刊名:Journal of the Neurological Sciences
出版年:2016
1
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