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在“
SpringerLink电子期刊
”中,
命中:
40
条,耗时:小于0.01 秒
在所有数据库中总计命中:
142
条
1.
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in
MLC1
and
HEPACAM
and a founder effect
作者:
Ghada M. H. Abdel-Salam
;
Mohamed S. Abdel-Hamid…
关键词:
Megalencephaly
;
Leukoencephalopathy
;
Subcortical cysts
;
HEPACAM
;
MLC1
;
Intrafamilial variability
;
Portwine facial hemangioma with facial hemihypertrophy
;
Founder effect
刊名:Metabolic Brain Disease
出版年:2016
2.
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations
作者:
Tanit Arnedo (1) (2)
Chiara Aiello (3)
Elena Jeworutzki (4)
Maria Lisa Dentici (3)
Graziella Uziel (5)
Alessandro Simonati (6)
Michael Pusch (4)
Enrico Bertini (3)
Raúl Estévez (1) (2)
关键词:
Leukodystrophy
;
MLC
;
MLC1
;
GLIALCAM
;
ClC
2 ;
Remitting phenotype
刊名:neurogenetics
出版年:2014
3.
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (
MLC1
) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide
作者:
Cecilia Mancini (1)
Giovanna Vaula (2)
Laura Scalzitti (1)
Simona Cavalieri (13)
Enrico Bertini (4)
Chiara Aiello (4)
Cinzia Lucchini (5)
Richard A. Gatti (6)
Alessandro Brussino (1) alessandro.brussino@gmail.com
Alfredo Brusco (13) alfredo.brusco@unito.it
关键词:
MLC1
–
;
Megalencephalic leukoencephalopathy type 1 –
;
Van der Knaap disease –
;
Homozygosis of a splicing mutation –
;
Antisense oligonucleotide –
;
AMO
刊名:neurogenetics
出版年:2012
4.
Cloning and molecular characterization of a myosin light chain gene from Puccinia striiformis f. sp. tritici
作者:
Jie Liu (1)
Li-Na Han (1)
Qiong Zhang (1)
Qiu-Ling Wang (1)
Qing Chang (2)
Hua Zhuang (2)
Jia Liu (1)
Man Li (1)
Dan Yu (2)
Zhen-Sheng Kang (2)
关键词:
Stripe rust
;
Puccinia striiformis f. sp. tritic
;
Myosin light chain
;
Function
刊名:World Journal of Microbiology and Biotechnology
出版年:2014
5.
Aerobic metabolism and cardiac activity in the descendants of zebrafish exposed to pyrolytic polycyclic aromatic hydrocarbons
作者:
Julie Lucas (1) (2)
Prescilla Perrichon (1) (2)
Marine Nouhaud (1)
Alexandre Audras (1)
Isabelle Leguen (3)
Christel Lefrancois (1)
关键词:
Parental transfer
;
Pyrolytic hydrocarbons
;
Sub
;
lethal concentration
;
Metabolic rate
;
Heart
刊名:Environmental Science and Pollution Research
出版年:2014
6.
Influence of differentially expressed genes from suicide post-mortem study on personality traits as endophenotypes on healthy subjects and suicide attempters
作者:
Raffaella Calati (1)
Ina Giegling (2)
Martina Balestri (3)
Niki Antypa (3)
Marion Friedl (2)
Bettina Konte (2)
Annette M. Hartmann (2)
Alessandro Serretti (3)
Dan Rujescu (2)
关键词:
Genetics
;
Personality
;
Suicide
;
Genetic association studies
刊名:European Archives of Psychiatry and Clinical Neuroscience
出版年:2014
7.
To evaluate the accuracy of dynamic versus static IMRT delivery using portal dosimetry
作者:
S. Clemente (1)
R. Caivano (1)
M. Cozzolino (1)
G. Califano (1)
C. Chiumento (1)
A. Fiorentino (1)
V. Fusco (1)
关键词:
DMLC
;
SMLC
;
Portal dosimetry (PD)
;
Delivery accuracy
刊名:Clinical and Translational Oncology
出版年:2014
8.
Cardiac dysfunction in an animal model of neonatal asphyxia is associated with increased degradation of
MLC1
by MMP-2
作者:
Adrian Doroszko
;
Dorota Polewicz
;
Jolanta Sawicka
;
J. Steven Richardson
;
Po-Yin Cheung and Grzegorz Sawicki
关键词:
Newborns
;
Hypoxia–
;
reoxygenation
;
MLC1
;
MMP
;
2
;
Heart injury
;
Peroxynitrite
刊名:Basic Research in Cardiology
出版年:2009
9.
Astrocytic
MLC1
involved in brain water homeostasis and myeline integrity
作者:
Mohit Dubey (77) (78)
M. Bugiani (77)
J.C Lodder (78)
HD. Mansvelder (78)
I. Boor (77)
Marjo S. van der Knaap (77)
刊名:Tijdschrift voor Kindergeneeskunde
出版年:2013
10.
Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion
作者:
Stephanie Duguez (1) (2)
William Duddy (1) (2)
Helen Johnston (1)
Jeanne Lainé (3) (4)
Marie Catherine Le Bihan (2) (3)
Kristy J. Brown (1)
Anne Bigot (2)
Yetrib Hathout (1)
Gillian Butler-Browne (2)
Terence Partridge (1)
关键词:
Dystrophinopathy
;
LAMP
;
Muscle cells
;
SILAC
;
Vesicle secretion
刊名:Cellular and Molecular Life Sciences (CMLS)
出版年:2013
1
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