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内部出版物
在“
Elsevier电子期刊
”中,
命中:
22
条,耗时:小于0.01 秒
1.
TUBA1A
Mutation Associated With Eye Abnormalities in Addition to Brain Malformation
作者:
Kenneth A. Myers
;
MD
;
PhD
a
;
kmyers@ucalgary.ca" class="auth_mail" title="E-mail the corresponding author
;
Luis E. Bello-Espinosa
;
MD
a
;
Amin Kherani
;
MD
b
;
Xing-Chang Wei
;
MB
;
MSc
c
;
Allan Micheil Innes
;
MD
d
关键词:
TUBA1A
protein
;
human
;
agenesis of corpus callosum
;
lissencephaly
;
cataract
;
microphthalmos
;
infantile spasms
;
microcephaly
;
cerebellar hypoplasia
;
brain malformation
刊名:Pediatric Neurology
出版年:2015
2.
Novel α-tubulin mutation disrupts neural development and tubulin proteostasis
作者:
M. Gartz Hanson
a
;
Jayne Aiken
b
;
Daniel V. Sietsema
b
;
David Sept
c
;
Emily A. Bates
a
;
Lee Niswander
a
;
Jeffrey K. Moore
b
;
jeffrey.moore@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Neural development
;
Motor neuron
;
Tuba1a
;
Microtubule
;
Tubulin proteostasis
刊名:Developmental Biology
出版年:2016
3.
A case of
TUBA1A
mutation presenting with lissencephaly and Hirschsprung disease
作者:
Norikatsu Hikita
;
Hideji Hattori
;
Mitsuhiro Kato
;
Satoru Sakuma
;
Yoshiki Morotomi
;
Hiroshi Ishida
;
Toshiyuki Seto
;
Katsuji Tanaka
;
Taro Shimono
;
Haruo Shintaku
;
Daisuke Tokuhara
关键词:
TUBA1A
;
Lissencephaly
;
Hirschsprung disease
;
Microcephaly
;
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
刊名:Brain and Development
出版年:February, 2014
4.
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly
作者:
Keiko Shimojima
a
;
b
;
Akihisa Okumura
c
;
d
;
Masaharu Hayashi
e
;
Takayuki Kondo
f
;
g
;
Haruhisa Inoue
f
;
g
;
Toshiyuki Yamamoto
b
;
yamamoto.toshiyuki@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
Induced pluripotent stem (iPS) cell
;
Neuronal migration disorder
;
PAFAH1B1 (LIS1)
;
TUBA1A
;
Coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2)
刊名:Genomics
出版年:2015
5.
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by
TUBA1A
mutation
作者:
Akihisa Okumura
a
;
okumura@juntendo.ac.jp
;
Masaharu Hayashi
b
;
Hiromichi Tsurui
c
;
Yoko Yamakawa
a
;
Shinpei Abe
a
;
Takahiro Kudo
a
;
Ryuyo Suzuki
a
;
Toshiaki Shimizu
a
;
Keiko Shimojima
d
;
Toshiyuki Yamamoto
d
关键词:
TUBA1A
;
Lissencephaly
;
Ventricular dilation
;
Cerebellar hypoplasia
刊名:Brain and Development
出版年:2013
6.
PP01.8 - 2708: Lissencephaly with gray matter heterotopias and spinal dysraphism - A new syndrome
作者:
R. Cohen
;
L. Kornreich
;
O. Konen
;
R. Straussberg
刊名:European Journal of Paediatric Neurology
出版年:2015
7.
Description of a novel
TUBA1A
mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis
作者:
Ginevra Zanni
a
;
Giovanna S. Colafati
b
;
Sabina Barresi
a
;
Francesco Randisi
b
;
Lorenzo Figà
;
Talamanca
b
;
Elisabetta Genovese
c
;
Emanuele Bellacchio
d
;
Andrea Bartuli
e
;
Bruno Bernardi
b
;
Enrico Bertini
a
;
ebertini@gmail.com
;
ebertini@tin.it
关键词:
Tubulin 1A
;
Polymicrogyria
;
Cerebellar hypoplasia
;
Cortical dysgenesis
刊名:European Journal of Paediatric Neurology
出版年:2013
8.
Acute epididymitis induces alterations in sperm protein composition
作者:
Adrian Pilatz
;
M.D.
a
;
adrian.pilatz@chiru.med.uni-giessen.de" class="auth_mail
;
Guenter Lochnit
;
Ph.D.
b
;
Srikanth Karnati
;
Ph.D.
c
;
Agnieszka Paradowska-Dogan
;
Ph.D.
a
;
Tali Lang
;
Ph.D.
d
;
Dirk Schultheiss
;
M.D.
e
;
Hans-Christian Schuppe
;
M.D.
a
;
Hamid Hossain
;
M.D.
f
;
Eveline Baumgart-Vogt
;
Ph.D.
c
;
Wolfgang Weidner
;
M.D.
a
;
Florian Wagenlehner
;
M.D.
a
关键词:
Epididymitis
;
male fertility
;
proteome analysis
;
semen quality
刊名:Fertility and Sterility
出版年:June 2014
9.
Proteomic analysis identifies differentially expressed proteins after red propolis treatment in Hep-2 cells
作者:
Caroline Olivieri da Silva Frozza
;
Tanara da Silva Ribeiro
;
Gabriela Gambato
;
Caroline Menti
;
Sidnei Moura
;
Paulo Marcos Pinto
;
Charley Christian Staats
;
Francine Ferreira Padilha
;
Karine Rech Begnini
;
Priscila Marques Moura de Leon
;
Sibele Borsuk
;
Lucielli Savegnago
;
Odir Dellagostin
;
Tiago Collares
;
Fabiana K枚mmling Seixas
;
Jo茫o Antonio P锚gas Henriques
;
Mariana Roesch-Ely
关键词:
Red propolis
;
Hep-2
;
Proteomics
;
Apoptosis
;
TUNEL
;
Annexin-V
刊名:Food and Chemical Toxicology
出版年:January, 2014
10.
TUBA1A
Mutation-Associated Lissencephaly: Case Report and Review of the Literature
作者:
Aman P.S. Sohal
;
MBBS
a
;
manusohal@rediffmail.com
;
Tara Montgomery
;
MBBS
b
;
Dipayan Mitra
;
MD
c
;
Venkateswaran Ramesh
;
MBBS DCh
a
刊名:Pediatric Neurology
出版年:2012
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