Genetic epidemiology of Charcot-Marie-Tooth disease. - Wikidata - awgldk - TriplyDB

Genetic epidemiology of Charcot-Marie-Tooth disease.

Genetic epidemiology of Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q52631187

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Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach The epidemiology and risk factors of chronic polyneuropathy Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study.Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves.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.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease.Advances in genetic diagnosis of neurological disorders.Iatrogenic lesions of peripheral nerves.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.A Review of X-linked Charcot-Marie-Tooth Disease.Nine-hole Peg Test and Ten-meter Walk Test for Evaluating Functional Loss in Chinese Charcot-Marie-Tooth Disease Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.Epidemiology of Peripheral Neuropathy: An Indian Perspective.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Transcriptomic analyses of genes and tissues in inherited sensory neuropathies.Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Germline genetic variants with implications for disease risk and therapeutic outcomes.Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

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Genetic epidemiology of Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q52631187

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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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name

Genetic epidemiology of Charcot-Marie-Tooth disease.

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Genetic epidemiology of Charcot-Marie-Tooth disease.

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type

label

Genetic epidemiology of Charcot-Marie-Tooth disease.

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Genetic epidemiology of Charcot-Marie-Tooth disease.

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Genetic epidemiology of Charcot-Marie-Tooth disease.

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Genetic epidemiology of Charcot-Marie-Tooth disease.

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Acta neurologica Scandinavica. Supplementum

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Genetic epidemiology of Charcot-Marie-Tooth disease.

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G J Braathen

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P2860

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

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

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

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

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

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

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iv-22

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scholarly article

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10.1111/ANE.12013

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193

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2012-01-01T00:00:00Z

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23106488

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