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。Sensorimotor and cognitive function of a NEFLP22S mutant model of Charcot-Marie-Tooth disease type 2E
Mohammed Filali et al.
BEHAVIOURAL BRAIN RESEARCH (2011)
Update on Charcot-Marie-Tooth Disease
Agnes Patzko et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2011)
LAMINOPATHIES: THE MOLECULAR BACKGROUND OF THE DISEASE AND THE PROSPECTS FOR ITS TREATMENT
Magdalena Zaremba-Czogalla et al.
CELLULAR & MOLECULAR BIOLOGY LETTERS (2011)
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
H. Skre
CLINICAL GENETICS (2010)
Foot Pad Skin Biopsy in Mouse Models of Hereditary Neuropathy
Patrizia Dacci et al.
GLIA (2010)
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E
Florence Dequen et al.
HUMAN MOLECULAR GENETICS (2010)
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy
Francesca Achilli et al.
DISEASE MODELS & MECHANISMS (2009)
Charcot-Marie-Tooth disease
Kinga Szigeti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
An Update on Nerve Biopsy
Jean-Michel Vallat et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2009)
A Cardio-Neurological Form of Laminopathy: Dilated Cardiomyopathy with Permanent Partial Atrial Standstill and Axonal Neuropathy
Alexandre Duparc et al.
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY (2009)
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa
T. Hamadouche et al.
ANNALS OF HUMAN GENETICS (2008)
A-type Lamins and progeroid syndromes: persistent farnesylation with dramatic effects
Claire L. Navarro et al.
M S-MEDECINE SCIENCES (2008)
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
Scott A. Detmer et al.
HUMAN MOLECULAR GENETICS (2008)
Mouse models of the laminopathies
Colin L. Stewart et al.
EXPERIMENTAL CELL RESEARCH (2007)
Laminopathies: A wide spectrum of human diseases
Howard J. Worman et al.
EXPERIMENTAL CELL RESEARCH (2007)
Animal models of inherited neuropathies
Gerd Meyer zu Hoerste et al.
CURRENT OPINION IN NEUROLOGY (2006)
An active dominant mutation of Glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
Kevin L. Seburn et al.
NEURON (2006)
Behavioural and histopathological alterations in mice with cerebral malaria
P Lackner et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2006)
Co-segregation of LMNA and PMP22 gene mutations in the same family
E Pegoraro et al.
NEUROMUSCULAR DISORDERS (2005)
Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene
A Vital et al.
NEUROMUSCULAR DISORDERS (2005)
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
S Benedetti et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)
Experimental Charcot-Marie-Tooth type 1A: A cDNA microarrays analysis
T Vigo et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2005)
An 8.5-kb segment of the PMP22 promoter responds to loss of axon signals during Wallerian degeneration, but does not respond to specific axonal signals during nerve regeneration
W Orfali et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2005)
Proteins that bind A-type lamins: integrating isolated clues
MS Zastrow et al.
JOURNAL OF CELL SCIENCE (2004)
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C Goizet et al.
JOURNAL OF MEDICAL GENETICS (2004)
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
M Chaouch et al.
NEUROMUSCULAR DISORDERS (2003)
Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A
AM Robertson et al.
JOURNAL OF ANATOMY (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)
Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
KJ Livak et al.
METHODS (2001)
分享论文
