Monday, March 19, 2018

Genetic Infiltrative Cardiomyopathies

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Mary E. Sweet, Luisa Mestroni, Matthew R.G. Taylor, Heart Failure Clinics, Volume 14, Issue 2, April 2018, Pages 215-224, ISSN 1551-7136, do...
Sunday, March 18, 2018

Resting-state connectivity in neurodegenerative disorders: Is there potential for an imaging biomarker?

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Christian Hohenfeld, Cornelius J. Werner, Kathrin Reetz, NeuroImage: Clinical, Available online 16 March 2018, ISSN 2213-1582, doi:10.1016/...

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

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Michael H Parkinson, Ana P Bartmann, Lisa M S Clayton, Suran Nethisinghe, Rolph Pfundt, J Paul Chapple, Mary M Reilly, Hadi Manji, Nicholas ...
Saturday, March 17, 2018

Distinct effects of frataxin missence point mutations on mitochondrial localization, protein processing, and cellular metabolism

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Clark, Elisia M., University of Pennsylvania, Philadelphia, PA, United States National Institute of Health (NIH), National Institute of Neu...

Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly

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ai Cai, Ronnie O. Frederick, Marco Tonelli, John L. Markley, Journal of Inorganic Biochemistry, Available online 15 March 2018, ISSN 0162-01...
Thursday, March 15, 2018

Biomarcadores epigenéticos: hacia su implantación en la rutina clínica / Epigenetic biomarkers: towards their incorporation into clinical routine

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José Luis García-Giménez, Gisselle Pérez-Machado, Jesús Beltrán-García, Eva García-López, Ester Berenguer-Pascual, Carlos Romá-Mateo, Federi...
Wednesday, March 14, 2018

Large-scale computational drug repositioning to find treatments for rare diseases

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Rajiv Gandhi Govindaraj, Misagh Naderi, Manali Singha, Jeffrey Lemoine & Michal Brylinski. npj Systems Biology and Applications 4, Artic...

Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

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Sowmya Devatha Venkatesh, Mahesh Kandasamy, Nagaraj S. Moily, Radhika Vaidyanathan, Lakshmi Narayanan Kota, Syama Adhikarla, Ravi Yadav, Pra...
Tuesday, March 13, 2018

Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice

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Kevin C Kemp, Kelly Hares, Juliana Redondo, Amelia J Cook, Harry R Haynes, Bronwen R Burton, Mark A Pook, Claire M Rice, Neil J Scolding and...
Sunday, March 11, 2018

New Insights into the Role of Neuron-Specific Enolase in Neuro-Inflammation, Neurodegeneration, and Neuroprotection.

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Haque A, Polcyn R, Matzelle D, Banik NL. Brain Sci. 2018 Feb;8(2) . doi:10.3390/brainsci8020033. PMID: 29463007; PMCID: PMC5836052. Elevat...