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CNKI学位论文(362)
CNKI期刊论文0611(2)
知网期刊论文(340)
在“
SpringerLink电子期刊
”中,
命中:
160
条,耗时:0.0389836 秒
在所有数据库中总计命中:
704
条
1.
Pulmonary manifestations in
Niemann
-
Pick
type
C disease with mutations in
NPC2
gene: case report and review of literature
作者:
Jayesh Sheth
;
Jijo John Joseph
;
Krati Shah
;
Mamta Muranjan…
关键词:
Alveolar proteinosis
;
Case report
;
Hepatosplenomegaly
;
Lung involvement
;
Lysosomal Storage Disorders
;
Niemann
;
Pick
disease
type
C
;
NPC2 gene
刊名:BMC Medical Genetics
出版年:2017
2.
Evolution of structural neuroimaging biomarkers in a series of adult patients with
Niemann
-
Pick
type
C under treatment
作者:
Marion Masingue
;
Isaac Adanyeguh
;
Yann Nadjar…
关键词:
Niemann
;
Pick
type
C
;
Neuroimaging
;
Biomarkers
;
Volumetry
;
Diffusion tensor imaging
;
Miglustat
刊名:Orphanet Journal of Rare Diseases
出版年:2017
3.
Brain REST/NRSF Is Not Only a Silent Repressor but Also an Active Protector
作者:
Yangang Zhao
;
Min Zhu
;
Yanlan Yu
;
Linli Qiu
;
Yuanyuan Zhang…
关键词:
Repressor element
;
1 binding transcription factor (REST)
;
Neuron
;
restrictive silencer factor (NRSF)
;
Neurogenesis
;
Neurodegenerative disease
;
Brain injury
刊名:Molecular Neurobiology
出版年:2017
4.
Vestibular function in patients with
Niemann
-
Pick
type
C disease
作者:
Tatiana Bremova
;
Siegbert Krafczyk
;
Stanislavs Bardins
;
Jörg Reinke…
关键词:
Metabolic disease (inherited)
;
Lipidoses
;
Niemann
;
Pick
type
C
;
Gait disorders/ataxia
;
Vertigo
;
Vestibular function
;
Vestibular evoked myogenic potentials
刊名:Journal of Neurology
出版年:2016
5.
Update on the Pharmacotherapy of Cerebellar Ataxia and Nystagmus
作者:
Katharina Feil
;
Tatiana Bremova
;
Carolin Muth
;
Roman Schniepp…
关键词:
Downbeat nystagmus
;
Episodic ataxia
type
2
;
4
;
Aminopyridine
;
Chlorzoxazone
;
Acetyl
;
DL
;
leucine
;
Niemann
;
Pick
type
C
刊名:The Cerebellum
出版年:2016
6.
Cataplexy and Sleep Disorders in
Niemann
-
Pick
Type
C Disease
作者:
Sona Nevsimalova (1)
Vera Malinova (2)
关键词:
Niemann
;
Pick
type
C
;
Clinical symptoms
;
Cataplexy
;
Sleep disturbance
;
Hypocretin
;
Personal observation
刊名:Current Neurology and Neuroscience Reports
出版年:2015
7.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with
Niemann
-
Pick
disease
type
C
作者:
Simona Fecarotta
;
Alfonso Romano
;
Roberto Della Casa…
关键词:
Niemann
;
Pick
disease
type
C
;
NPC
;
Miglustat
;
NB
;
DNJ
;
Substrate reduction therapy
;
Treatment
;
Therapy
刊名:Orphanet Journal of Rare Diseases
出版年:2015
8.
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for
Niemann
-
Pick
disease
type
C: an observational cohort study
作者:
Marc C Patterson
;
Eugen Mengel
;
Marie T Vanier…
关键词:
Niemann
;
Pick
disease
type
C
;
Miglustat
;
Registry
刊名:Orphanet Journal of Rare Diseases
出版年:2015
9.
Observational cohort study of the natural history of
Niemann
-
Pick
disease
type
C in the UK: a 5-year update from the UK clinical database
作者:
Jackie Imrie
;
Lesley Heptinstall
;
Stephen Knight
;
Kate Strong
关键词:
Niemann
;
Pick
disease
type
C
;
Natural history
;
NPC1/NPC2
;
Miglustat
刊名:BMC Neurology
出版年:2015
10.
Longitudinal assessment of reflexive and volitional saccades in
Niemann
-
Pick
Type
C disease during treatment with miglustat
作者:
Larry A. Abel
;
Mark Walterfang
;
Matthew J. Stainer…
关键词:
Niemann
;
Pick
type
C
;
Miglustat
;
Saccades
;
Gain
;
Velocity
;
Antisaccade
刊名:Orphanet Journal of Rare Diseases
出版年:2015
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