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知网期刊论文(6)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:0.0129866 秒
在所有数据库中总计命中:
6
条
1.
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to
mutation
in the
SLC30A10
gene
作者:
Khairunnisa Mukhtiar
a
;
Shahnaz Ibrahim
a
;
shahnaz.ibrahim@aku.edu" class="auth_mail" title="E-mail the corresponding author
;
Karin Tuschl
b
;
Phillipa Mills
b
关键词:
Inherited hypermanganesemia
;
Polycythemia
;
SLC30A10
mutation
刊名:Brain and Development
出版年:2016
2.
The first inborn error of manganese metabolism caused by
mutation
s in
SLC30A10
, a newly identified manganese transporter
作者:
Dr K Tuschl
a
;
k.tuschl@ucl.ac.uk
;
PT Clayton
a
;
SM Gospe Jr
b
;
G Shamshad
c
;
S Ibrahim
c
;
P Singhi
d
;
RT Ribeiro
e
;
MS Zaki
f
;
M Luz del Rosario
g
;
S Dyack
h
;
V Price
h
;
RA Wevers
i
;
PB Mills
a
刊名:The Lancet
出版年:2013
3.
Inherited manganism: The 鈥渃ock-walk鈥?gait and typical neuroimaging features
作者:
Marcela Amaral Avelino
a
;
marcelavelino@yahoo.com.br" class="auth_mail
;
Eduardo Ferracioli Fusã
;
o
a
;
José
;
Luiz Pedroso
a
;
Juliana Harumi Arita
a
;
Reinaldo Teixeira Ribeiro
a
;
Ricardo Silva Pinho
a
;
Karin Tuschl
b
;
Orlando G.P. Barsottini
a
;
Marcelo Rodrigues Masruha
a
关键词:
Manganese
;
Dystonia
;
Manganism inherited
;
Movement disorders
;
Hypermanganesemia
刊名:Journal of the Neurological Sciences
出版年:15 June 2014
4.
Mutation
s in
SLC30A10
Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
作者:
Marialuisa Quadri
1
;
Antonio Federico
2
;
Tianna Zhao
1
;
Guido
;
J. Breedveld
1
;
Carla Battisti
2
;
Cathé
;
rine Delnooz
3
;
Lies-Anne Severijnen
1
;
Lara Di
;
Toro
;
Mammarella
2
;
Andrea Mignarri
2
;
Lucia Monti
4
;
Antioco Sanna
4
;
Peng Lu
5
;
Francesca Punzo
1
;
6
;
Giovanni Cossu
7
;
Rob Willemsen
1
;
Fabrizio Rasi
8
;
Ben
;
A. Oostra
1
;
Bart
;
P. van
;
de
;
Warrenburg
3
;
Vincenzo Bonifati
1
;
v.bonifati@erasmusmc.nl
刊名:The American Journal of Human Genetics
出版年:2012
5.
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by
Mutation
s in
SLC30A10
, a Manganese Transporter in Man
作者:
Karin Tuschl
1
;
k.tuschl@ucl.ac.uk
;
Peter
;
T. Clayton
1
;
Sidney
;
M. Gospe Jr.
2
;
Shamshad Gulab
3
;
Shahnaz Ibrahim
3
;
Pratibha Singhi
4
;
Roosy Aulakh
5
;
Reinaldo
;
T. Ribeiro
6
;
Orlando
;
G. Barsottini
6
;
Maha
;
S. Zaki
7
;
Maria
;
Luz Del
;
Rosario
8
;
Sarah Dyack
9
;
Victoria Price
9
;
Andrea Rideout
9
;
Kevin Gordon
9
;
Ron
;
A. Wevers
10
;
W.K. “
;
Kling”
;
;
Chong
11
;
Philippa
;
B. Mills
1
刊名:The American Journal of Human Genetics
出版年:2012
1
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