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。A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland
Stela Lefter et al.
NEUROLOGY (2017)
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations
Stephanie N. Oprescu et al.
METHODS (2017)
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient
Petra Lassuthova et al.
NEUROMUSCULAR DISORDERS (2017)
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families
L. Liu et al.
CLINICAL GENETICS (2017)
Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family
G. J. Braathen et al.
ACTA NEUROLOGICA SCANDINAVICA (2016)
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report
P. Lassuthova et al.
CLINICAL GENETICS (2016)
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype
Jose Berciano et al.
JOURNAL OF NEUROLOGY (2016)
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy
Florian P. Thomas et al.
JOURNAL OF NEUROLOGY (2016)
N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy
Yi Yang et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2016)
CHARCOT-MARIE-TOOTH DISEASE TYPE 1X IN WOMEN: ELECTRODIAGNOSTIC FINDINGS
Nivedita U. Jerath et al.
MUSCLE & NERVE (2016)
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
Petra Lassuthova et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients
Suqin Jin et al.
CLINICAL NEUROPATHOLOGY (2015)
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease
T. Sevilla et al.
EUROPEAN JOURNAL OF NEUROLOGY (2015)
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype
Jose Berciano et al.
JOURNAL OF NEUROLOGY (2015)
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland
Boglarka Bansagi et al.
JOURNAL OF NEUROLOGY (2015)
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons
Andreas Roos et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2015)
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease
Kathryn M. Brennan et al.
NEUROMUSCULAR DISORDERS (2015)
A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease
Gen Tamiya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report
Yuan Zhao et al.
BMC NEUROLOGY (2014)
Recent advances in Charcot-Marie-Tooth disease
Jonathan Baets et al.
CURRENT OPINION IN NEUROLOGY (2014)
Neuropathologic Characterization of INF2-Related Charcot-Marie-Tooth Disease: Evidence for a Schwann Cell Actinopathy
Stephane Mathis et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2014)
A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis
Hyung J. Park et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2014)
Intermediate Charcot-Marie-Tooth disease
Lei Liu et al.
NEUROSCIENCE BULLETIN (2014)
Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease
Bing-Wen Soong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Rune Ostern et al.
BMC MEDICAL GENETICS (2013)
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease
Hamid Azzedine et al.
HUMAN MOLECULAR GENETICS (2013)
INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE
Christopher J. Klein et al.
MUSCLE & NERVE (2013)
Clinical implications of genetic advances in Charcot-Marie-Tooth disease
Alexander M. Rossor et al.
NATURE REVIEWS NEUROLOGY (2013)
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
I. Borgulova et al.
NEUROGENETICS (2013)
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
Ines Mademan et al.
NEUROLOGY (2013)
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
Hyeon Jin Kim et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopas A. Kleopa et al.
BRAIN RESEARCH (2012)
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Sinead M. Murphy et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
X-linked Charcot-Marie-Tooth disease
Steven S. Scherer et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2012)
Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain
Juan D. Ramirez et al.
PAIN (2012)
Charcot-Marie-Tooth Disease Subtypes and Genetic Testing Strategies
Anita S. D. Saporta et al.
ANNALS OF NEUROLOGY (2011)
A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease
Hideya Sakaguchi et al.
JOURNAL OF NEUROLOGY (2011)
A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease
Sinead M. Murphy et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations
Ki W. Chung et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
Phenotype expression in women with CMT1X
Carly E. Siskind et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
A NOVEL MUTATION OF GAP JUNCTION PROTEIN BETA 1 GENE IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE
Sheng Dong Chen et al.
MUSCLE & NERVE (2011)
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease
Dagmara Kabzinska et al.
NEUROGENETICS (2011)
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
M. Zimon et al.
NEUROLOGY (2011)
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood
E. M. Yiu et al.
NEUROLOGY (2011)
INF2 Mutations in Charcot-Marie-Tooth Disease with Glomerulopathy
Olivia Boyer et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan
Kon-Ping Lin et al.
PLOS ONE (2011)
A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
Philippe Latour et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
Heather M. McLaughlin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
Geir J. Braathen et al.
BMC MEDICAL GENETICS (2010)
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K
C. Crimella et al.
JOURNAL OF MEDICAL GENETICS (2010)
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy
Paolo Solla et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
Axonal Pathology Precedes Demyelination in a Mouse Model of X-Linked Demyelinating/Type I Charcot-Marie Tooth Neuropathy
Natalie Vavlitou et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2010)
X-linked Charcot-Marie-Tooth disease with novel c.47A > T GJB1 gene mutation
Alexander F. J. E. Vrancken et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2010)
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease
Rafael Sivera et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2010)
Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies
Claudia L. Sommer et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2010)
INTRAOPERATIVE ON-NERVE NERVE CONDUCTION STUDY AND CONVERSION FACTOR IN THE SURAL NERVE
Shin J. Oh et al.
MUSCLE & NERVE (2010)
CHARCOT-MARIE-TOOTH DISEASE WITH INTERMEDIATE CONDUCTION VELOCITIES CAUSED BY A NOVEL MUTATION IN THE MPZ GENE
Isabel Banchs et al.
MUSCLE & NERVE (2010)
Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics
Paschalis Nicolaou et al.
NEUROEPIDEMIOLOGY (2010)
Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy
Hyun Sook Kim et al.
NEUROGENETICS (2010)
Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease
Yi-Chung Lee et al.
NEUROMUSCULAR DISORDERS (2010)
A Novel Recessive NEFL Mutation Causes a Severe, Early-Onset Axonal Neuropathy
Sabrina W. Yum et al.
ANNALS OF NEUROLOGY (2009)
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
Kristl G. Claeys et al.
BRAIN (2009)
Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement
David Moher et al.
JOURNAL OF CLINICAL EPIDEMIOLOGY (2009)
Dysfunctions of neuronal and glial intermediate filaments in disease
Ronald K. H. Liem et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss
F. Spaans et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)
Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy
Erik Storkebaum et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
Teresa Sevilla et al.
BRAIN (2008)
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation
Elena Gallardo et al.
JOURNAL OF NEUROLOGY (2008)
Review of the multiple aspects of neurofilament functions, and their possible contribution to neurodegeneration
Rodolphe Perrot et al.
MOLECULAR NEUROBIOLOGY (2008)
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings
Marc Bitoun et al.
NEUROMUSCULAR DISORDERS (2008)
Correlations of nerve conduction measures in axonal and demyelinating polyneuropathies
Hatice Tankisi et al.
CLINICAL NEUROPHYSIOLOGY (2007)
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
G. M. Fabrizi et al.
NEUROLOGY (2007)
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
Gabriel Miltenberger-Miltenyi et al.
ARCHIVES OF NEUROLOGY (2007)
The nuclear factor κB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
Isabelle Maystadt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Phenotype of Charcot-Marie-Tooth disease Type 2
H. M. E. Bienfait et al.
NEUROLOGY (2007)
CMT1X phenotypes represent loss of GJB1 gene function
M. E. Shy et al.
NEUROLOGY (2007)
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease
I. G. Huttner et al.
NEUROLOGY (2006)
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
G. Vazza et al.
NEUROMUSCULAR DISORDERS (2006)
Comparison of CMT1A and CMT2: similarities and differences
Henriette M. E. Bienfait et al.
JOURNAL OF NEUROLOGY (2006)
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
Kristien Verhoeven et al.
BRAIN (2006)
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
KA Kleopa et al.
NEUROLOGY (2006)
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
A Jordanova et al.
NATURE GENETICS (2006)
Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE
K Beauvais et al.
NEUROMUSCULAR DISORDERS (2006)
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
VH Lawson et al.
NEUROLOGY (2005)
Severe neuropathy with leaky connexin32 hemichannels
GSL Liang et al.
ANNALS OF NEUROLOGY (2005)
CMTX mimicking childhood chronic inflammatory demyelinating neuropathy with tremor
MM Ryan et al.
MUSCLE & NERVE (2005)
Genetics of Charcot-Marie-Tooth disease type 4A:: mutations, inheritance, phenotypic variability, and founder effect
R Claramunt et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S Züchner et al.
NATURE GENETICS (2005)
Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation
JE Sowden et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2005)
X-linked Charcot-Marie-Tooth disease:: Phenotypic expression of a novel mutation IIe127Ser in the GJB1 (connexin 32) gene
P Vondracek et al.
MUSCLE & NERVE (2005)
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)
Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation
A Capasso et al.
CLINICAL NEUROPHYSIOLOGY (2004)
Connexin 32 promoter P2 mutations:: A mechanism of peripheral nerve dysfunction
H Houlden et al.
ANNALS OF NEUROLOGY (2004)
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35
A Jordanova et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
T Sevilla et al.
BRAIN (2003)
Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region
DQ Zhu et al.
NEUROGENETICS (2003)
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
J Senderek et al.
BRAIN (2003)
Assessment of axonal loss in Charcot-Marie-Tooth neuropathies
VH Lawson et al.
EXPERIMENTAL NEUROLOGY (2003)
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients
N Hattori et al.
BRAIN (2003)
Mutations in GDAP1 -: Autosomal recessive CMT with demyelination and axonopathy
E Nelis et al.
NEUROLOGY (2002)
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)
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432
MC Speer et al.
NEUROGENETICS (2002)
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration
BH LaMonte et al.
NEURON (2002)
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
A Cuesta et al.
NATURE GENETICS (2002)
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
RV Baxter et al.
NATURE GENETICS (2002)
Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1
K Verhoeven et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2
ML Kennerson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
O Dubourg et al.
BRAIN (2001)
Perineurium contributes to axonal damage in acute inflammatory demyelinating polyneuropathy
J Berciano et al.
NEUROLOGY (2000)
Peripheral motor and sensory nerve conduction studies in normal infants and children
A Garcia et al.
CLINICAL NEUROPHYSIOLOGY (2000)