Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2 - Wikidata - awgldk - TriplyDB

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

http://www.wikidata.org/entity/Q35074642

about

Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach Why mitochondria must fuse to maintain their genome integrity Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.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.Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle Mitochondrial dynamics in heart disease.Clinical neurogenetics: recent advances.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.A cohort study ofMFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients

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P2860

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

http://www.wikidata.org/entity/Q35074642

description

2011 nî lūn-bûn

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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

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type

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

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S00415-011-5910-7

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Journal of Neurology

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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

@en

P2093

Ainsley Peguero

http://www.w3.org/2001/XMLSchema#string

Donald S McCorquodale

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Fiorella Speziani

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Gladys Montenegro

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Justin Price

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Michel Melanson

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Nicole Carlson

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Sean W Taylor

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P2860

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

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s00415-011-5910-7

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1234-1239

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scholarly article

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10.1007/S00415-011-5910-7

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7

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258

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Jeffery M. Vance

Stephan Züchner

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2011-01-22T00:00:00Z

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