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内部出版物
在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:小于0.01 秒
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.
Mortalin mutations are not a frequent cause of early-onset Parkinson disease
作者:
Karen Freimann
;
Katja Zschiedrich
;
Norbert Br¨¹ggemann
;
Anne Gr¨¹newald
;
Heike
Pawlack
;
Johann Hagenah
;
Katja Lohmann
;
Christine Klein
;
Ana Westenberger
关键词:
Early-onset Parkinson disease
;
Mitochondria
;
Mortalin
;
HSPA9
;
GRP75
刊名:Neurobiology of Aging
出版年:2013
3.
Frequency of heterozygous Parkin
作者:
Norbert Brü
;
ggemann
;
Manfred Mitterer
;
Andrea J. Lanthaler
;
Ana Djarmati
;
Johann Hagenah
;
Karin Wiegers
;
Susen Winkler
;
Heike
Pawlack
;
Thora Lohnau
;
Peter P. Pramstaller
;
Christine Klein
;
Katja Lo
关键词:
Parkin
;
Controls
;
Subtle signs
;
Heterozygous mutation
;
Hyperechogenicity
刊名:Parkinsonism and Related Disorders
出版年:2009
4.
Mutations in THAP1
作者:
Ana Djarmati
;
Susanne A Schneider
;
Katja Lohmann
;
Susen Winkler
;
Heike
Pawlack
;
Johann Hagenah
;
Norbert Brü
;
ggemann
;
Simone Zittel
;
Tania Fuchs
;
Aleks
;
ar Raković
;
Alex
;
er Schmidt
;
Hans-Chris
刊名:Lancet Neurology
出版年:2009
1
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