Molecular genetics of charcot-marie-tooth disease: from genes to genomes. - Test2 - elhamkhani - TriplyDB

Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

http://www.wikidata.org/entity/Q36493294

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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy Multiple Sites Ultrasonography of Peripheral Nerves in Differentiating Charcot-Marie-Tooth Type 1A from Chronic Inflammatory Demyelinating Polyradiculoneuropathy.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?The scales and tales of myelination: using zebrafish and mouse to study myelinating glia PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Towards a functional pathology of hereditary neuropathies.Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease.Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

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Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

http://www.wikidata.org/entity/Q36493294

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

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Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

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type

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Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

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Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

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Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

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Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

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Molecular syndromology

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Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

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P2860

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

Rapid Conduction and the Evolution of Giant Axons and Myelinated Fibers

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Connexin mutations in X-linked Charcot-Marie-Tooth disease

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