Friday, October 21, 2016

Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients

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Inder Singh, Sunil Shakya, Rakesh Kumar Singh, Istaq Ahmad, Vinay Goyal, Garima Shukla, Madakasira Vasantha Padma Srivastava, Mohammed Faruq...
Wednesday, October 19, 2016

Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming

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Polak Urszula, Li Yanjie, Butler Jill Sergesketter, and Napierala Marek. Stem Cells and Development. October 2016, ahead of print. doi:10.10...
Tuesday, October 18, 2016

AN AYURVEDIC PERSPECTIVE OF FRIEDREICH’S ATAXIA

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Dr. Archana Mogili, Dr. Mrudula Sankaramanchi, Dr. C H.Sadanandam. International Ayurvedic medical Journal, Volume 4; Issue 10; October- 201...
Monday, October 17, 2016

Human neuron-astrocyte 3D co-culture-based assay for evaluation of neuroprotective compounds

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Ana Paula Terrasso, Ana Carina Silva, Augusto Filipe, Pedro Pedroso, Ana Lúcia Ferreira, Paula Marques Alves, Catarina Brito, Journal of Pha...
Sunday, October 16, 2016

Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders

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Wooseok Im, Jangsup Moon, Manho Kim; Review Article, J Mov Disord 2016; 9(3): 136-143. Published online: September 21, 2016 DOI:10.14802/jmd...
Friday, October 14, 2016

hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias Opportunities and Future Challenges

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Dunja Lukovic, Victoria Moreno-Manzano, Francisco Javier Rodriguez-Jimenez, Angel Vilches, Eva Sykova, Pavla Jendelova, Miodrag Stojkovic, S...
Thursday, October 13, 2016

New Reasons to Pursue the Therapeutic Potential of Synthetic Nucleic Acids for Neurological Diseases

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Jill Sergesketter Butler, PhD; Marek Napierala, PhD; Editorial. JAMA Neurol. 2016;73(10):1175-1177. doi:10.1001/jamaneurol.2016.2571 Find...
Wednesday, October 12, 2016

Synthetic Nucleic Acids and Treatment of Neurological Diseases

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David R. Corey, PhD; JAMA Neurol. 2016;73(10):1238-1242. doi:10.1001/jamaneurol.2016.2089 Emerging Target: Frataxin/Friedreich’s Ataxia: ...
Monday, October 10, 2016

Modeling and correction of structural variations in patient-derived iPSCs using CRISPR/Cas9

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Chul-Yong Park, Jin Jea Sung, Sang-Hwi Choi, Dongjin R Lee, In-Hyun Park & Dong-Wook Kim; Nature Protocols 11, 2154–2169 (2016) doi:10.1...
Sunday, October 9, 2016

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

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Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie...