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CNKI学位论文(28)
CNKI期刊论文0611(1)
知网期刊论文(10)
在“
SpringerLink电子期刊
”中,
命中:
9
条,耗时:小于0.01 秒
在所有数据库中总计命中:
39
条
1.
NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype
作者:
José Berciano
;
Antonio García
;
Kristien Peeters
;
Elena Gallardo…
关键词:
Blink reflex
;
Brainstem auditory evoked potentials
;
Charcot–Marie–Tooth disease types 1F and 2E
;
CMTNS
;
Dominant intermediate Charcot–Marie–Tooth disease
;
Electrophysiology
;
Motor evoked potentials
;
MRI
;
Multi
;
slice CT
;
Muscle fatty atrophy
;
Muscle oedema
;
NEFL E396K mutation
;
Nerve conduction
;
Neurofilament
;
Pelvic girdle weakness
;
Somatosensory evoked potentials
;
SPG10
;
T
;
reflex recording
;
Visual evoked potentials
刊名:Journal of Neurology
出版年:2015
2.
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
作者:
John K. Fink
刊名:Acta Neuropathologica
出版年:2013
3.
Axonal transport deficit in a KIF5A--/i> mouse model
作者:
Kathrin N. Karle (1)
Diana M?ckel (1)
Evan Reid (2)
Ludger Sch?ls (1) ludger.schoels@uni-tuebingen.de
关键词:
Motor neuron – KIF5A – Axonal transport – Axonal outgrowth – Mitochondria – Hereditary spastic paraplegia (HSP)
刊名:neurogenetics
出版年:2012
4.
A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport
作者:
Lina Wang (1)
Anthony Brown (1)
刊名:Molecular Neurodegeneration
出版年:2010
5.
A novel
KIF5A
/
SPG10
mutation in spastic paraplegia associated with axonal neuropathy
作者:
A. Tessa
;
G. Silvestri
;
M. F. de Leva
;
A. Modoni
;
P. S. Denora
;
M. Masciullo
;
M. T. Dotti
;
C. Casali
;
M. A. B. Melone and A. Federico
;
et al.
刊名:Journal of Neurology
出版年:2008
6.
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
作者:
Marcia A. Blair
;
Shaochun Ma and Peter Hedera
关键词:
Hereditary spastic paraplegia
;
KIF5A
;
Age of onset
;
Mutation
刊名:neurogenetics
出版年:2006
7.
Mutation in
KIF5A
can also cause adult-onset hereditary spastic paraplegia
作者:
Marcia A. Blair
;
Shaochun Ma and Peter Hedera
关键词:
Hereditary spastic paraplegia
;
KIF5A
;
Age of onset
;
Mutation
刊名:neurogenetics
出版年:2006
8.
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia
作者:
Allison Ashley-Koch
;
Erin R. Bonner
;
P. Craig Gaskell
;
Sandra G. West
;
Richard Tim
;
Chantelle M. Wolpert
;
Rodney Jones
;
Carolyn D. Farrell
;
Martha Nance and Ingrid K. Svenson
;
et al.
关键词:
Autosomal dominant familial spastic paraplegia Linkage Chromosome 12q Chromosome 19q
刊名:neurogenetics
出版年:2001
9.
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia
作者:
Allison Ashley-Koch
;
Erin R. Bonner
;
P. Craig Gaskell
;
Sandra G. West
;
Richard Tim
;
Chantelle M. Wolpert
;
Rodney Jones
;
Carolyn D. Farrell
;
Martha Nance and Ingrid K. Svenson
;
et al.
关键词:
Autosomal dominant familial spastic paraplegia Linkage Chromosome 12q Chromosome 19q
刊名:neurogenetics
出版年:2001
1
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文摘(7)
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2013年(1)
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