Friday, July 26, 2013

A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia

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A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia . Goldstein A.; ...

Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Up-regulate Frataxin during in vitro Differentiation to Peripheral Sensory Neurons.

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Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Up-regulate Frataxin during in vitro Differentiation to Peripheral Se...
Thursday, July 25, 2013

Iron metabolism in the CNS: implications for neurodegenerative diseases

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Iron metabolism in the CNS: implications for neurodegenerative diseases . Tracey A. Rouault; Nature Reviews Neuroscience 14, 551–564 (2013) ...

The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin

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The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin . Santiago Faraj, Leandro Venturutti, Ernes...
Wednesday, July 24, 2013

Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia Activation of the Integrated Stress Response, eIF2α Phosphorylation, and the Induction of Downstream Targets

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Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia : Activation of the Integrated Stress Response, eIF2α Pho...
Tuesday, July 23, 2013

Stem Cells for the FA: The Court says no to the rejection of judges in Florence.

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Metodo Stamina: il Tribunale dice no alla ricusazione dei giudici di Firenze . La Nazione, Firenze, Firenze, 22 luglio 2013 Stem Cells fo...

Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intrusions

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Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intr...
Monday, July 22, 2013

Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function

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Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function . ...
Friday, July 19, 2013

Insights into the role of oxidative stress in the pathology of Friedreich Ataxia using peroxidation resistant polyunsaturated fatty acids

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Insights into the role of oxidative stress in the pathology of Friedreich Ataxia using peroxidation resistant polyunsaturated fatty acids . ...
Wednesday, July 17, 2013

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

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Clinical features of Friedreich's ataxia: classical and atypical phenotypes . Michael H. Parkinson, Sylvia Boesch, Wolfgang Nachbauer, C...