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内部出版物
CNKI学位论文(387)
知网期刊论文(171)
在“
SpringerLink电子期刊
”中,
命中:
137
条,耗时:0.0209894 秒
在所有数据库中总计命中:
558
条
1.
A Novel
TTBK2
De Novo Mutation in a Danish Family with
Early
-
Onset
Spinocerebellar
Ataxia
作者:
Suzanne Granhøj Lindquist
;
Lisbeth Birk Møller
;
Christine I Dali…
关键词:
Spinocerebellar
ataxia
;
Genetics
;
Neurodegeneration
;
Cerebellum
刊名:The Cerebellum
出版年:2017
2.
Nonneurological Involvement in Late-
Onset
Friedreich
Ataxia
(LOFA): Exploring the Phenotypes
作者:
Alberto R. M. Martinez
;
Adriana Moro
;
Agessandro Abrahao
;
Ingrid Faber…
关键词:
Late
;
onset
Friedreich
ataxia
;
Retained reflexes
;
Spastic
ataxia
;
Ataxia
刊名:The Cerebellum
出版年:2017
3.
STUB1
/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
作者:
Stefanie Nicole Hayer
;
Tine Deconinck
;
Benjamin Bender…
关键词:
Neurodegeneration
;
Neurodegenerative disease
;
CHIP
;
Gordon Holmes syndrome
;
Ataxia
;
Recessive
ataxia
;
Spastic
ataxia
;
Early
onset
ataxia
;
Dementia
;
Early
;
onset
dementia
;
Hypogonadism
;
Magnetic resonance imaging
刊名:Orphanet Journal of Rare Diseases
出版年:2017
4.
Prognostic Importance of Lesion Location on Functional Outcome in Patients with Cerebellar Ischemic Stroke: a Prospective Pilot Study
作者:
Alessandro Picelli
;
Paola Zuccher
;
Giampaolo Tomelleri
;
Paolo Bovi…
关键词:
Ataxia
;
Cerebellum
;
Early
diagnosis
;
Infarction
;
Prognosis
刊名:The Cerebellum
出版年:2017
5.
Mosaicism in
ATP1A3
-related disorders: not just a theoretical risk
作者:
Marie Hully
;
Juliette Ropars
;
Laurence Hubert
;
Nathalie Boddaert…
关键词:
ATP1A3
;
Mosaicism
;
Alternating hemiplegia of childhood (AHC)
;
Rapid
onset
dystonia parkinsonism (RDP)
;
Genetic counseling
刊名:neurogenetics
出版年:2017
6.
Identifying Niemann–Pick type C in
early
-
onset
ataxia
: two quick clinical screening tools
作者:
Matthis Synofzik
;
Zofia Fleszar
;
Ludger Schöls
;
Jennifer Just…
关键词:
Niemann–Pick disease type C
;
Early
onset
ataxia
;
Suspicion index
;
Diagnosis
刊名:Journal of Neurology
出版年:2016
7.
Spinocerebellar
ataxia
type 3/Machado-Joseph disease starting before adolescence
作者:
Karina Carvalho Donis
;
Jonas Alex Morales Saute
;
Ana Carolina Krum-Santos…
关键词:
Early
childhood
onset
;
Natural history
;
Machado
;
Joseph disease
;
Polyglutamine disorders
;
Spinocerebellar
ataxia
type 3
刊名:neurogenetics
出版年:2016
8.
NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous
early
-
onset
phenotype
作者:
José Berciano
;
Kristien Peeters
;
Antonio García…
关键词:
Cerebellar
ataxia
;
Charcot–Marie–Tooth disease types 2E and 1F
;
Dominant intermediate Charcot–Marie–Tooth disease
;
Muscle edema
;
Muscle fatty atrophy
;
NEFL N98S mutation
刊名:Journal of Neurology
出版年:2016
9.
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-
onset
episodic
ataxia
作者:
N. Schwarz
;
A. Hahn
;
T. Bast
;
S. Müller
;
H. Löffler
;
S. Maljevic…
关键词:
Epilepsy
;
Genetics
;
Ataxia
;
Channelopathy
;
Sodium channel
刊名:Journal of Neurology
出版年:2016
10.
NPC1 is enriched in unexplained
early
onset
ataxia
: a targeted high-throughput screening
作者:
Matthis Synofzik
;
Florian Harmuth
;
Miriam Stampfer…
关键词:
Ataxia
;
Recessive
ataxia
;
Early
onset
ataxia
;
Genetics
;
Lysosomal storage diseases
;
Prevalence
刊名:Journal of Neurology
出版年:2015
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