Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. - sprookjes - yvandenbroek - TriplyDB

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

http://www.wikidata.org/entity/Q38679540

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Progression of Friedreich ataxia: quantitative characterization over 5 years Selected missense mutations impair frataxin processing in Friedreich ataxia Friedreich Ataxia: current status and future prospects.Impact of diabetes in the Friedreich ataxia clinical outcome measures study.Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia.Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?Biophysical characterisation of the recombinant human frataxin precursor.Drosophila melanogaster Models of Friedreich's Ataxia.Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

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P2860

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

http://www.wikidata.org/entity/Q38679540

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

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Annals of Neurology

P1476

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

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P2093

Aamira Huq

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Charles A Galea

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David R Lynch

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Eppie M Yiu

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Francoise Pousset

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Geneieve Tai

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Louise A Corben

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Marguerite V Evans-Galea

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Martin B Delatycki

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Michael Parkinson

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P2860

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin

Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins

In vivo maturation of human frataxin

Dynamics, stability and iron-binding activity of frataxin clinical mutants

Prediction of water and metal binding sites and their affinities by using the Fold-X force field.

Friedreich ataxia: an overview

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.

Crystal structure of human frataxin

Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin

Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex

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485-495

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scholarly article

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10.1002/ANA.24595

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3

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79

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Paul J. Lockhart

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2015-12-24T00:00:00Z

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26704351

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