相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Genetic and clinical aspects of Charcot-Marie-Tooth's disease
H. Skre
CLINICAL GENETICS (2010)
Real-time imaging reveals defects of fast axonal transport induced by disorganization of intermediate filaments
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FASEB JOURNAL (2009)
Mitochondrial and Axonal Abnormalities Precede Disruption of the Neurofilament Network in a Model of Charcot-Marie-Tooth Disease Type 2E and Are Prevented by Heat Shock Proteins in a Mutant-Specific Fashion
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JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2009)
Neurofilaments Bind Tubulin and Modulate Its Polymerization
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JOURNAL OF NEUROSCIENCE (2009)
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1
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JOURNAL OF HUMAN GENETICS (2008)
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
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HUMAN MOLECULAR GENETICS (2008)
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1
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HUMAN MOLECULAR GENETICS (2007)
Phenotype of Charcot-Marie-Tooth disease Type 2
H. M. E. Bienfait et al.
NEUROLOGY (2007)
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
Gian Maria Fabrizi et al.
BRAIN (2007)
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
Robert H. Baloh et al.
JOURNAL OF NEUROSCIENCE (2007)
Animal models of inherited neuropathies
Gerd Meyer zu Hoerste et al.
CURRENT OPINION IN NEUROLOGY (2006)
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease?: Functional analysis using cell culture models
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JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2006)
Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin
Stephanie Millecamps et al.
JOURNAL OF NEUROCHEMISTRY (2006)
A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease
CL Leung et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants
T Sasaki et al.
HUMAN MOLECULAR GENETICS (2006)
Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport
R Pérez-Ollé et al.
JOURNAL OF NEUROCHEMISTRY (2005)
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E
C Andrigo et al.
NEUROGENETICS (2005)
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
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NEUROLOGY (2004)
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
S Züchner et al.
NEUROMUSCULAR DISORDERS (2004)
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan
M Yamamoto et al.
NEUROGENETICS (2004)
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models
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HUMAN MOLECULAR GENETICS (2004)
Functions of intermediate filaments in neuronal development and disease
RC Lariviere et al.
JOURNAL OF NEUROBIOLOGY (2004)
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
A Jordanova et al.
BRAIN (2003)
Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation
R Perez-Olle et al.
JOURNAL OF CELL SCIENCE (2002)
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
DM Georgiou et al.
NEUROGENETICS (2002)
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
A De Sandre-Giovannoli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Conditional control of gene expression in the mouse
M Lewandoski
NATURE REVIEWS GENETICS (2001)
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ
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CELL (2001)
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