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Springer电子图书(9)
CNKI学位论文(942)
CNKI期刊论文0611(1)
知网期刊论文(595)
在“
Elsevier电子期刊
”中,
命中:
327
条,耗时:0.0199831 秒
在所有数据库中总计命中:
1,547
条
1.
Cause of Death in Children With Mitochondrial Diseases
作者:
Soyong Eom
;
MD
;
PhD
a
;
Ha Neul Lee
;
MD
b
;
Sunho Lee
;
MD
b
;
Hoon-Chul Kang
;
MD
;
PhD
c
;
Joon Soo Lee
;
MD
;
PhD
c
;
Heung Dong Kim
;
MD
;
PhD
c
;
Young-Mock Lee
;
MD
;
PhD
b
;
ymleemd@yuhs.ac
关键词:
mitochondrial disease
;
pediatric
;
children
;
cause of death
;
risk factor
;
mortality
刊名:Pediatric Neurology
出版年:2017
2.
Response to immunotherapy in a patient with adult onset
Leigh
syndrome
and T9176C mtDNA mutation
作者:
Miguel Chuquilin
a
;
chuquilinaristam@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author
;
Raghav Govindarajan
b
;
govindarajanr@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author
;
Dawn Peck
c
;
peckda@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author
;
Esperanza Font-Montgomery
c
;
fontmontgomerye@health.missouri.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Leigh
syndrome
;
ATP6A
;
T9176C
;
Autoimmune encephalitis
;
Plasmapheresis
;
Intravenous immunoglobulin
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
3.
Leigh
syndrome
: Resolving the clinical and genetic heterogeneity paves the way for treatment options
作者:
Mike Gerards
a
;
b
;
mike.gerards@maastrichtuniversity.nl" class="auth_mail" title="E-mail the corresponding author
;
Suzanne C.E.H. Sallevelt
a
;
Hubert J.M. Smeets
a
关键词:
Leigh
syndrome
;
mitochondrial disease
;
mitochondrial DNA
;
treatment
刊名:Molecular Genetics and Metabolism
出版年:2016
4.
FDG-PET study of patients with
Leigh
syndrome
作者:
Kauzhiro Haginoya
a
;
b
;
khaginoya@kha.biglobe.ne.jp" class="auth_mail" title="E-mail the corresponding author
;
Tomohiro Kaneta
c
;
Noriko Togashi
d
;
Naomi Hino-Fukuyo
a
;
Tomoko Kobayashi
a
;
Mitsugu Uematsu
a
;
Taro Kitamura
e
;
Takehiko Inui
b
;
Yukimune Okubo
a
;
b
;
Yusuke Takezawa
a
;
b
;
Mai Anzai
b
;
Wakaba Endo
a
;
b
;
Noriko Miyake
f
;
Hirotomo Saitsu
f
;
Naomichi Matsumoto
f
;
Shigeo Kure
a
关键词:
FDG-PET
;
Leigh
syndrome
;
neuroimaging
;
positron emission tomography
;
mitochondrial disease
;
PET
刊名:Journal of the Neurological Sciences
出版年:2016
5.
Generation of a human iPSC line from a patient with
Leigh
syndrome
作者:
Teresa Galera
a
;
b
;
c
;
Francisco Zurita
a
;
b
;
c
;
Cristina Gonzá
;
lez-Pá
;
ramos
a
;
b
;
c
;
Ana Moreno-Izquierdo
d
;
Mario F. Fraga
e
;
Agustin F. Ferná
;
ndez
f
;
Rafael Garesse
a
;
b
;
c
;
M. Esther Gallardo
a
;
b
;
c
;
egallardo@iib.uam.es" class="auth_mail" title="E-mail the corresponding author
关键词:
Leigh
syndrome
;
Induced pluripotent stem cells
;
iPSC
;
iPS cells
;
MT-ND5
刊名:Stem Cell Research
出版年:2016
6.
Ndufs4 related
Leigh
syndrome
: A case report and review of the literature
作者:
Juan Darí
;
o Ortigoza-Escobar
a
;
j
;
Alfonso Oyarzabal
b
;
Raquel Montero
c
;
Rafael Artuch
c
;
i
;
Cristina Jou
d
;
i
;
Cecilia Jimé
;
nez
d
;
i
;
Laura Gort
e
;
i
;
Paz Briones
e
;
h
;
i
;
Jordi Muchart
f
;
Ester Ló
;
pez-Gallardo
g
;
i
;
Sonia Emperador
g
;
i
;
Eduardo Ruiz Pesini
g
;
i
;
Julio Montoya
g
;
i
;
Belé
;
n Pé
;
rez
b
;
Pilar Rodrí
;
guez-Pombo
b
;
Belé
;
n Pé
;
rez-Dueñ
;
as
a
;
i
;
bperez@hsjdbcn.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Leigh
syndrome
;
Respiratory chain complex I
;
NDUFS4
;
BN-PAGE
;
Next generation sequencing
刊名:Mitochondrion
出版年:2016
7.
Identification of a novel deletion in SURF1 gene: Heterogeneity in
Leigh
syndrome
with COX deficiency
作者:
Carolina Ribeiro
a
;
Maria do Carmo Macá
;
rio
b
;
Ana Teresa Viegas
a
;
c
;
Joã
;
o Pratas
a
;
Maria Joã
;
o Santos
a
;
c
;
Marta Simõ
;
es
a
;
Câ
;
ndida Mendes
a
;
Mafalda Bacalhau
a
;
c
;
Paula Garcia
d
;
Luí
;
sa Diogo
c
;
d
;
Manuela Grazina
a
;
c
;
mgrazina.fmuc@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
bioqgene@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Leigh
syndrome
;
SURF1
;
COX deficiency
;
Deletion
;
Nonsense mutation
刊名:Mitochondrion
出版年:2016
8.
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a
Leigh
gene
作者:
Laura Bianciardi
a
;
Valentina Imperatore
a
;
Erika Fernandez-Vizarra
b
;
Angela Lopomo
c
;
Micol Falabella
b
;
d
;
Simone Furini
e
;
Paolo Galluzzi
f
;
Salvatore Grosso
g
;
Massimo Zeviani
b
;
Alessandra Renieri
a
;
h
;
alessandra.renieri@unisi.it" class="auth_mail" title="E-mail the corresponding author
;
Francesca Mari
a
;
h
;
francesca.mari@unisi.it" class="auth_mail" title="E-mail the corresponding author
;
Elisa Frullanti
a
关键词:
Exome sequencing
;
NDUFAF6
;
Leigh
syndrome
;
RNA analysis
刊名:Molecular Genetics and Metabolism
出版年:2016
9.
Epidural Spinal Cord Stimulation: A Novel Therapy in the Treatment of Restless Legs
Syndrome
作者:
Marshall T. Holland
1
;
Leigh
A. Rettenmaier
1
;
Oliver E. Flouty
1
;
Teri R. Thomsen
2
;
Nivedita U. Jerath
2
;
Chandan G. Reddy
1
;
chandan-reddy@uiowa.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Epidural
;
Failed back
syndrome
;
Periodic limb movements
;
Restless legs
syndrome
;
Spinal cord stimulation
刊名:World Neurosurgery
出版年:2016
10.
A systematic review of genetic variants associated with metabolic
syndrome
in patients with schizophrenia
作者:
Stefanie Malan-Mü
;
ller
a
;
b
;
smalan@sun.ac.za" class="auth_mail" title="E-mail the corresponding author
;
Sanja Kilian
a
;
Leigh
L. van den Heuvel
a
;
Soraya Bardien
b
;
Laila Asmal
a
;
Louise Warnich
c
;
Robin A. Emsley
a
;
Sî
;
an M.J. Hemmings
a
;
b
;
Soraya Seedat
a
关键词:
Schizophrenia
;
Metabolic
syndrome
;
Gene variants
;
Genetic association
;
Comorbidity
;
Pleiotropy
刊名:Schizophrenia Research
出版年:2016
1
2
3
4
5
6
7
8
9
按检索点细分(327)
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