Friday, June 24, 2016

Is it your Disease or the Patient’s?

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Sami L. Bahna, Alexandria Brackett, The American Journal of the Medical Sciences, Available online 24 May 2016, ISSN 0002-9629, doi:10.1016/...
Thursday, June 23, 2016

Cortico-cerebellar dysfunctions underlying executive deficits in Friedreich’s ataxia

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22nd Annual Meeting of the Organization for Human Brain Mapping. Poster Session Tuesday, June 28, 2016. Imis Dogan, Eugenie Tinnemann, Sandr...
Tuesday, June 21, 2016

The New Genetic Inheritance: Mechanisms of Inheritance That Mendel Would Not Have Predicted With Sweet Peas

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R. Douglas Wilson, Journal of Obstetrics and Gynaecology Canada, Available online 7 June 2016, ISSN 1701-2163, doi:10.1016/j.jogc.2016.04.09...

Directions for new developments on statistical design and analysis of small population group trials

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Ralf-Dieter Hilgers, Kit Roes, Nigel Stallard and for the IDeAl, Asterix and InSPiRe project groups. Orphanet Journal of Rare Diseases 20161...
Sunday, June 19, 2016

Oxidative stress in neurological disease: Is it the cause, consequence, or trigger of a chronic progressive form?

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J.A. Serra, E.R. Marschoff, R.O. Domínguez, Neurología (English Edition), Available online 17 June 2016, ISSN 2173-5808, doi:10.1016/j.nrlen...
Saturday, June 18, 2016

Promising gene therapies pose million-dollar conundrum

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Erika Check Hayden, Nature 534, 305–306 (16 June 2016) doi:10.1038/534305a. Economists, investors and medical insurers can’t figure out ho...
Friday, June 17, 2016

Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia

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Angela D. Bhalla, Alireza Khodadadi-Jamayran, Yanjie Li, David R. Lynch and Marek Napierala. Annals of Clinical and Translational Neurology....
Thursday, June 16, 2016

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders

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R. Brian Sommerville, Margherita Guzzi Vincenti, Kathleen Winborn, Anne Casey, Nathan O. Stitziel, Anne M. Connolly, Douglas L. Mann, Trends...
Wednesday, June 15, 2016

Obstructive Form of Hypertrophic Cardiomyopathy-Left Ventricular Outflow Tract Gradient: Novel Methods of Provocation, Monitoring of Biomarkers, and Recent Advances in the Treatment.

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Pawel Petkow Dimitrow and Renata Rajtar-Salwa. Biomed Res Int. 2016; 2016: 1575130. Published online 2016 May 10. doi: 10.1155/2016/1575130...
Tuesday, June 14, 2016

STEADFAST Long-Term Safety Extension

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ClinicalTrials.gov. First received: June 2, 2016. ClinicalTrials.gov Identifier: NCT02797080. Sponsor: Horizon Pharma Ireland, Ltd., Dublin ...