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内部出版物
CNKI学位论文(1)
知网期刊论文(3)
在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:0.0119931 秒
在所有数据库中总计命中:
4
条
1.
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases
作者:
Ana Westenberger
;
PhD
1
;
*
;
ana.westenberger@neuro.uni-luebeck.de
;
Christoph Max
;
BSc
1
;
*
;
Norbert Brü
;
ggemann
;
MD
1
;
2
;
Aloysius Domingo
;
MD
1
;
3
;
Karen Grü
;
tz
;
MSc
1
;
Heike Pawlack
;
BSc
1
;
Anne Weissbach
;
MD
1
;
Andrea A. Kü
;
hn
;
MD
4
;
Juliane Spiegler
;
MD
5
;
Anthony E. Lang
;
MD
6
;
Jü
;
rgen
Sperner
;
MD
7
;
Victor S.C. Fung
;
PhD
8
;
Jens Schallner
;
MD
9
;
Gabriele Gillessen-Kaesbach
;
MD
10
;
Alexander Mü
;
nchau
;
MD
1
;
Christine Klein
;
MD
1
关键词:
case report
;
adenylate cyclase 5 (ADCY5) mutations
;
alternating hemiplegia of childhood (AHC)
;
chorea
;
pediatric movement disorder
刊名:The Journal of Pediatrics
出版年:2017
2.
A De Novo Mutation in the ¦Â-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
作者:
Cas Simons
1
;
Nicole I. Wolf
2
;
Nathan McNeil
3
;
Ljubica Caldovic
4
;
Joseph M. Devaney
4
;
Asako Takanohashi
4
;
Joanna Crawford
1
;
Kelin Ru
1
;
Sean M. Grimmond
5
;
David Miller
5
;
Davide Tonduti
6
;
Johanna L. Schmidt
4
;
Robert S. Chudnow
7
;
Rudy van Coster
8
;
Lieven Lagae
9
;
Jill Kisler
10
;
Jü
;
rgen
Sperner
11
;
Marjo S. van der Knaap
2
;
Raphael Schiffmann
3
;
Ryan J. Taft
1
;
12
;
r.taft@uq.edu.au
;
Adeline Vanderver
4
;
12
;
avanderv@childrensnational.org
刊名:The American Journal of Human Genetics
出版年:2013
3.
Life-long increase of substantia nigra hyperechogenicity in transcranial sonography
作者:
Johann Hagenah
;
Inke R. Kö
;
nig
;
Jü
;
rgen
Sperner
;
Lucas Wessel
;
Gü
;
nter Seidel
;
Kelly Condefer
;
Rachel Saunders-Pullman
;
Christine Klein
;
Norbert Brü
;
ggemann
关键词:
Substantia nigra
;
Echogenicity
;
Children
;
Transcranial sonography
刊名:NeuroImage
出版年:2010
4.
Lyme disease with lymphocytic meningitis, trigeminal palsy and silent thalamic lesion
作者:
Joachim Kö
;
chling
;
Hans J. Freitag
;
Thomas Bollinger
;
Alex
;
er Herz
;
Jü
;
rgen
Sperner
关键词:
Neuroborreliosis
;
Trigeminal nerve palsy
;
Thalamic lesion
;
MRI
;
Follow-up report
刊名:European Journal of Paediatric Neurology
出版年:2008
5.
Right-sided vagus nerve stimulation in humans: An effective therapy?
作者:
Sebastian Spuck
;
Georg Nowak
;
Axel Renneberg
;
Volker Tronnier
;
Jü
;
rgen
Sperner
关键词:
Right sided
;
Vagus nerve stimulation
;
Epilepsy
刊名:Epilepsy Research
出版年:2008
6.
Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9
作者:
Jiong Tao
;
Hilde Van Esch
;
M. Hagedorn-Greiwe
;
Kirsten Hoffmann
;
Bettina Moser
;
Martine Raynaud
;
Jü
;
rgen
Sperner
;
Jean-Pierre Fryns
;
Eberhard Schwinger
;
Jozef Gé
;
cz
;
Hans-Hilger Ropers
;
Vera M. Kalscheuer
刊名:The American Journal of Human Genetics
出版年:2004
7.
Multiphasic disseminated encephalomyelitis associated with streptococcal infection
作者:
CHRISTOPH HÄ
;
RTEL
;
STEFAN SCHILLING
;
STEFAN GOTTSCHALK
;
JÜ
;
RGEN
SPERNER
关键词:
Multiphasic disseminated encephalomyelitis
;
Streptococcal infection
刊名:European Journal of Paediatric Neurology
出版年:2002
8.
Evidence That Paternal Expression of the ε-Sarcoglycan
作者:
Birgitt Mü
;
ller
;
Katja Hedrich
;
Norman Kock
;
Natasa Dragasevic
;
Marina Svetel
;
Jennifer Garrels
;
Olfert L
t ;
Matthias Nitschke
;
Peter P. Pramstaller
;
Wolf Reik
;
Eberhard Schwinger
;
Jü
;
rgen
Sperner
;
Laurie Ozelius
;
Vladimir Kostic
;
Christine Klein
刊名:The American Journal of Human Genetics
出版年:2002
9.
Familial pontocerebellar hypoplasia type I with anterior horn cell disease
作者:
Ute Gö
;
rgen
-Pauly
;
Jü
;
rgen
Sperner
;
Irwin Reiss
;
Hans-Bjö
;
rn Gehl
;
Erich Reusche
刊名:European Journal of Paediatric Neurology
出版年:1999
1
按检索点细分(9)
作者(9)
按出版年细分(9)
2017年(1)
2013年(1)
2010年(1)
2008年(2)
2004年(1)
2002年(2)
2000年及以前(1)
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