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内部出版物
在“
Elsevier电子期刊
”中,
命中:
533
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.
Predictors of recurrence in Sydenham’s
chorea
: Clinical observation from a single center
作者:
Esra Gurkas
;
esragurkas@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Zeynep S. Karalok
;
Birce D. Taskin
;
Ummu Aydogmus
;
Alev Guven
;
Aydan Degerliyurt
;
Omer Bektas
;
Cahide Yilmaz
关键词:
Sydenham&rsquo
;
s
chorea
;
Rheumatic fever
;
Recurrence
刊名:Brain and Development
出版年:2016
3.
Huntington's Disease like 2 presenting with isolated Parkinsonism
作者:
Luiz Felipe Rocha Vasconcellos
a
;
b
;
luizneurol@terra.com.br
;
Philippe Joaquim Oliveira Menezes Macê
;
do
b
;
macedophilippe@outlook.com
;
Jé
;
ssyca Botelho Franck
b
;
dra.jessycafranck@gmail.com
;
Vitor Tumas
c
;
tumasv@rnp.fmrp.usp.br
;
Wilson Marques Jú
;
nior
c
;
wmjunior@fmrp.usp.br
;
Mariana Spitz
a
;
d
;
marianaspitz@gmail.com
关键词:
Parkinsonism
;
Huntington's Disease
;
Huntington's Disease like 2
刊名:Journal of the Neurological Sciences
出版年:2017
4.
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome
作者:
Pretty O. Afifi
a
;
pretty_afifi@hotmail.com
;
Hanaa Hussein Elsanadiky
b
关键词:
Ataxia-telangiectasia
;
Audiological assessment
;
ABR findings
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2017
5.
Chorea
in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation
作者:
Arushi Gahlot Saini
;
MD
;
DM (Pediatric Neurology)
;
Naveen Sankhyan
;
MD
;
DM (Pediatric Neurology)
;
Pratibha Singhi
;
MD
;
FIAP
;
FNAMS
;
doctorpratibhasinghi@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
late-infantile neuronal ceroid lipofuscinoses
;
chorea
;
neuroregression
;
cerebellar atrophy
刊名:Pediatric Neurology
出版年:2016
6.
Patience is the key: Contraceptive induced
chorea
in a girl with Down Syndrome
作者:
Hendriekje Eggink
a
;
Anouk Kuiper
a
;
Cathé
;
rine C.S. Delnooz
a
;
Deborah A. Sival
a
;
Tom J. de Koning
a
;
b
;
Marina A.J. Tijssen
a
;
m.a.j.de.koning-tijssen@umcg.nl" class="auth_mail" title="E-mail the corresponding author
关键词:
Chorea
;
Oral contraceptives
;
Down Syndrome
刊名:European Journal of Paediatric Neurology
出版年:2016
7.
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary
chorea
作者:
Claudia Provenzano
a
;
Michela Zamboni
a
;
Liana Veneziano
b
;
Elide Mantuano
b
;
Barbara Garavaglia
c
;
Giovanna Zorzi
d
;
Javier Pagonabarraga
e
;
Paola Giunti
f
;
Donato Civitareale
a
;
donato.civitareale@cnr.it" class="auth_mail" title="E-mail the corresponding author
关键词:
Benign hereditary
chorea
;
TTF-1/Nkx2.1
;
Brain&ndash
;
thyroid&ndash
;
lung syndrome
;
Genotype/phenotype correlation
;
Neurological disease
刊名:Journal of the Neurological Sciences
出版年:2016
8.
Phenotypic abnormalities in a
chorea
-acanthocytosis mouse model are modulated by strain background
作者:
Hitoshi Sakimoto
;
Masayuki Nakamura
;
nakamu36@m.kufm.kagoshima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
Omi Nagata
;
Izumi Yokoyama
;
Akira Sano
关键词:
Chorea
-acanthocytosis
;
ChAc-model mouse
;
Behavior experiments
;
Genetic modifiers
刊名:Biochemical and Biophysical Research Communications
出版年:2016
9.
A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and
chorea
作者:
Hyeyoung Park
;
Beom Seok Jeon
;
brain@snu.ac.kr" class="auth_mail" title="E-mail the corresponding author
;
Jung Hwan Shin
关键词:
Spinocerebellar ataxia type 17
;
Trinucleotide repeats
;
Parkinsonism
;
Chorea
;
Submandibular gland
刊名:Parkinsonism & Related Disorders
出版年:2016
10.
Language Impairment in Adolescents With Sydenham
Chorea
作者:
Estefâ
;
nia Harsá
;
nyi
;
OT
;
PhD
a
;
Janaina Moreira
;
PhD
;
MD
b
;
Arthur Kummer
;
PhD
;
MD
b
;
r2kummer@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Zilda Maria Alves Meira
;
PhD
;
MD
c
;
Francisco Cardoso
;
PhD
;
MD
d
;
Antonio L. Teixeira
;
PhD
;
MD
b
关键词:
Sydenham
chorea
;
rheumatic fever
;
language
;
cognition
;
neuropsychiatry
刊名:Pediatric Neurology
出版年:2015
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