Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. - Wikidata - awgldk - TriplyDB

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q36475272

about

What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease OPA1-dependent cristae modulation is essential for cellular adaptation to metabolic demand Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Mitofusin 2 Deficiency Affects Energy Metabolism and Mitochondrial Biogenesis in MEF Cells.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Clinical implications of genetic advances in Charcot-Marie-Tooth disease.The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.A practical approach to the genetic neuropathies.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.Expanding the clinical phenotypes of MT-ATP6 mutations.Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.ATP Synthase Diseases of Mitochondrial Genetic Origin.

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q36475272

description

2012 nî lūn-bûn

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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

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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type

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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prefLabel

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

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P2093

Annapurna Chalasani

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Carol Crowe

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

Cathy Woodward

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Cheryl Longman

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Ellen Cottenie

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Ese E Mudanohwo

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Frances Flinter

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Henry Houlden

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Iain Hargreaves

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Janice L Holton

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P2860

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.

Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex

Two new mutations in the MTATP6 gene associated with Leigh syndrome.

Tricine-SDS-PAGE.

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

Diagnosis and new treatments in genetic neuropathies.

The diagnosis of mitochondrial muscle disease.

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10.1212/WNL.0B013E3182698D8D

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