The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesDiseases of the nuclear envelope.Abnormal nerve conduction features in fragile X premutation carriers.Molecular genetic analysis of the nested Drosophila melanogaster lamin C geneDifferential transcriptome profile of peripheral white cells to identify biomarkers involved in oxaliplatin induced neuropathy.Dominantly inherited peripheral neuropathies.Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies.Mouse models of the laminopathies.Nuclear envelopathies--raising the nuclear veil.Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Genetics of dilated cardiomyopathy.Adult stem cell maintenance and tissue regeneration in the ageing context: the role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Clinical and genetic heterogeneity in laminopathies.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Anti-calreticulin antibodies and calreticulin in sera of patients diagnosed with dilated or hypertrophic cardiomyopathy.Mutations in the LMNA gene do not cause axonal CMT in Czech patients.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
P2860
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P2860
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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name
The phenotypic manifestations ...... a mutation in Lamin A/C gene.
@en
type
label
The phenotypic manifestations ...... a mutation in Lamin A/C gene.
@en
prefLabel
The phenotypic manifestations ...... a mutation in Lamin A/C gene.
@en
P2093
P50
P1476
The phenotypic manifestations ...... o a mutation in Lamin A/C gene
@en
P2093
A Amer-el-Khedoud
J M Vallat
N Kassouri
T Hammadouche
P356
10.1016/S0960-8966(02)00196-7
P577
2003-01-01T00:00:00Z