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Wiley电子期刊(1)
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Elsevier电子期刊(31)
在“
Elsevier电子期刊
”中,
命中:
31
条,耗时:小于0.01 秒
在所有数据库中总计命中:
48
条
1.
Clinical and genetic studies in patients with Lafora disease from Pakistan
作者:
Arsalan Ahmad
a
;
1
;
Rubina Dad
b
;
1
;
Muhammad Ikram Ullah
c
;
Tahir Ahmed Baig
b
;
Imran N. Ahmad
d
;
Abdul Nasir
e
;
Christian A. Hü
;
bner
f
;
Muhammad Jawad Hassan
b
;
mjh@asab.nust.edu.pk
关键词:
Lafora disease
;
Mutation
;
EPM2A
;
Pakistani families
刊名:Journal of the Neurological Sciences
出版年:2017
2.
Screening of Differently Expressed miRNA and mRNA in Prostate Cancer by Integrated Analysis of Transcription Data
作者:
Yanan Sun
a
;
Xiaopeng Jia
b
;
jia_xiaopeng115@163.com" class="auth_mail" title="E-mail the corresponding author
;
Lianguo Hou
c
;
Xing Liu
d
刊名:Urology
出版年:2016
3.
Four novel and two recurrent NHLRC1 (
EPM2
B) and EP
M2A
gene mutations leading to Lafora disease in six Turkish families
作者:
Seda Salar
a
;
Naz Yeni
b
;
Ay?egü
;
l Gü
;
ndü
;
z
b
;
Ay?e Gü
;
ler
c
;
Ahmet Gö
;
kç
;
ay
c
;
Sibel Velio?lu
d
;
Asl? Gü
;
ndo?du
a
;
S. Hande Ç
;
a?layan
a
;
hande@boun.edu.tr
关键词:
Lafora disease
;
Mutations
;
EPM2A
;
NHLRC1 (
EPM2
B)
;
Malin
;
Laforin
刊名:Epilepsy Research
出版年:2012
4.
Polyglucosan storage myopathies
作者:
Carola Hedberg-Oldfors
;
Anders Oldfors
;
anders.oldfors@gu.se" class="auth_mail" title="E-mail the corresponding author
关键词:
Glycogen
;
Metabolism
;
Muscle glycogen storage disorders
;
Polyglucosan
;
Polysaccharide storage
;
Cardiomyopathy
;
Muscle disease
刊名:Molecular Aspects of Medicine
出版年:2015
5.
PP01.12 - 2602: Differential diagnosis of progressive myoclonic epilepsia: Five patients with Lafora disease
作者:
H.G. Poyrazoglu
;
S. Kumandaş
;
M. Canpolat
;
H. Per
;
H. Gü
;
mü
ş ;
A. Arslan
;
F. Ö
;
zkinay
刊名:European Journal of Paediatric Neurology
出版年:2015
6.
A novel nonsense mutation of the
EPM2A
gene in Northwest Greece causing myoclonic epilepsy
作者:
Dimitrios Chatzistefanidis
a
;
b
;
dimihat@otenet.gr
;
Katerina Giaka
b
;
Ioannis Georgiou
b
;
Athanassios P. Kyritsis
a
;
Sofia Markoula
a
关键词:
EPM2A
;
Lafora disease
;
Laforin
;
Myoclonic epilepsy
刊名:Seizure
出版年:2013
7.
Identification and characterization of novel splice variants of the human
EPM2A
gene mutated in Lafora progressive myoclonus epilepsy
作者:
Deepti Dubey
;
Rashmi Parihar
;
Subramaniam Ganesh
;
sganesh@iitk.ac.in
关键词:
Phosphatase
;
Alternative splicing
;
Epilepsy
;
Protein diversity
刊名:Genomics
出版年:2012
8.
Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease)
作者:
Kathrin Schorlemmer
;
Sebastian Bauer
;
Marcus Belke
;
Anke Hermsen
;
Karl Martin Klein
;
Philipp S. Reif
;
Wolfgang H. Oertel
;
Wolfram S. Kunz
;
Susanne Knake
;
Felix Rosenow
;
Adam Strzelczyk
关键词:
Perampanel
;
Epilepsy
;
Progressive myoclonic epilepsy
;
Lafora
;
Myoclonus
;
EPM2A
刊名:Epilepsy & Behavior Case Reports
出版年:2013
9.
Lafora disease: Severe phenotype associated with homozygous deletion of the NHLRC1 gene
作者:
Miljana Kecmanovi?
a
;
miljana@bio.bg.ac.rs
;
Neboj&scaron
;
a Jovi?
b
;
Mirjana ?uki?
c
;
Milica Keckarevi?-Markovi?
a
;
Du&scaron
;
an Keckarevi?
a
;
Galina Stevanovi?
b
;
Stanka Romac
a
关键词:
Lafora disease
;
Severe phenotype
;
Large deletion
;
NHLRC1
刊名:Journal of the Neurological Sciences
出版年:2013
10.
A novel exon 3 mutation in a Tunisian patient with Lafora's disease
作者:
H. Mrabet Khiari
a
;
helamrabet@yahoo.com
;
G. Lesca
b
;
A. Malafosse
c
;
A. Mrabet
a
关键词:
Lafora disease
;
Progressive myoclonus
;
Genetics
;
EPM2A
刊名:Journal of the Neurological Sciences
出版年:2011
1
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