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 disruption of Pten in a novel mouse model of tomaculous neuropathy
Sandra Goebbels et al.
EMBO MOLECULAR MEDICINE (2012)
LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: Implications for Charcot-Marie-Tooth disease
Christian Somandin et al.
GLIA (2012)
Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking
Samuel M. Lee et al.
JOURNAL OF CELL BIOLOGY (2012)
Neuromuscular function after muscle fatigue in Charcot-Marie-Tooth type 1A patients
Federica Menotti et al.
MUSCLE & NERVE (2012)
A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies
Madoka Iida et al.
NEUROMUSCULAR DISORDERS (2012)
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)
Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways
Samuel M. Lee et al.
JOURNAL OF CELL SCIENCE (2011)
Myelin and Axon Pathology in a Long-Term Study of PMP22-Overexpressing Mice
Camiel Verhamme et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations
Ki W. Chung et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
Ndrg1 in development and maintenance of the myelin sheath
Rosalind H. M. King et al.
NEUROBIOLOGY OF DISEASE (2011)
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E
Florence Dequen et al.
HUMAN MOLECULAR GENETICS (2010)
Early phenotypical diagnoses in Trembler-J mice model
Gonzalo Rosso et al.
JOURNAL OF NEUROSCIENCE METHODS (2010)
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
Davide Pareyson et al.
LANCET NEUROLOGY (2009)
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
Wanda Maria Gerding et al.
NEUROMUSCULAR DISORDERS (2009)
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
Estelle Arnaud et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Molecular Mechanisms of Inherited Demyelinating Neuropathies
Steven S. Scherer et al.
GLIA (2008)
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice
Fred L. Robinson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Rapid zygosity determination in mice by SYBR Green real-time genomic PCR of a crude DNA solution
Takayuki Sakurai et al.
TRANSGENIC RESEARCH (2008)
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2
Kristian Tersar et al.
HUMAN MOLECULAR GENETICS (2007)
Mechanisms of Disease: inherited demyelinating neuropathies - from basic to clinical research
Klaus-Armin Nave et al.
NATURE CLINICAL PRACTICE NEUROLOGY (2007)
Easy and rapid method of zygosity determination in transgenic mice by SYBR® Green real-time quantitative PCR with a simple data analysis
Karine Haurogne et al.
TRANSGENIC RESEARCH (2007)
Human and rat adult Schwann cell cultures: fast and efficient enrichment and highly effective non-viral transfection protocol
Kirsten Haastert et al.
NATURE PROTOCOLS (2007)
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease:: three novel mutations
P Latour et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2006)
Early paranodal myelin swellings (tomacula) in an avian riboflavin deficiency model of demyelinating neuropathy
Z Cai et al.
EXPERIMENTAL NEUROLOGY (2006)
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice
L Wrabetz et al.
JOURNAL OF NEUROSCIENCE (2006)
Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)
Philipp Berger et al.
GLIA (2006)
An animal model for Charcot-Marie-Tooth disease type 4B1
S Bonneick et al.
HUMAN MOLECULAR GENETICS (2005)
A new method of selecting Schwann cells from adult mouse sciatic nerve
ME Pannunzio et al.
JOURNAL OF NEUROSCIENCE METHODS (2005)
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-tooth type 4B1 neuropathy with myelin outfoldings
A Bolis et al.
JOURNAL OF NEUROSCIENCE (2005)
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation
GM Saifi et al.
HUMAN MUTATION (2005)
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
A Bolino et al.
JOURNAL OF CELL BIOLOGY (2004)
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
CL Bennett et al.
ANNALS OF NEUROLOGY (2004)
Disease mechanisms in inherited neuropathies
U Suter et al.
NATURE REVIEWS NEUROSCIENCE (2003)
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report
A Kochanski et al.
EUROPEAN JOURNAL OF NEUROLOGY (2003)
Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1
I Kobsar et al.
BRAIN (2003)
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
VA Street et al.
NEUROLOGY (2003)
Tomacula in MAG-deficient mice
Z Cai et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2002)
Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
KJ Livak et al.
METHODS (2001)
Mycobacterium bovis bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1
Y Moriwaki et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Hrs interacts with sorting nexin 1 and regulates degradation of epidermal growth factor receptor
LS Chin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
GM Fabrizi et al.
ACTA NEUROPATHOLOGICA (2000)
Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies
S Sander et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)
分享论文
