Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms

Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms. Michal Icht, Boaz M. Ben-David; Journal of Communication Disorders, Available online 23 February 2014. http://dx.doi.org/10.1016/j.jcomdis.2014.02.002

Oral-Diadochokinesis has been used to evaluate the presence and severity of neurological impairments. Inaccurate, inconsistent or an abnormal oral-DDK performance might indicate disorders of the central nervous system or peripheral sensory motor functions.

Spinocerebellar ataxia, Parkinson’s disease and Friedreich’s ataxia (both presenting orofacial motor impairments,were characterized with reduced Oral-Diadochokinesis scores.

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models . Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A. Pook; PLoS ONE 9(2): e89488. doi:10.1371/journal.pone.0089488

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Genomic Instability in Pluripotent Stem Cells: Implications for Clinical Applications

Genomic Instability in Pluripotent Stem Cells: Implications for Clinical Applications. Suzanne E. Peterson and Jeanne F. Loring; The Journal of Biological Chemistry, 289, 4578-4584. 10.1074/jbc.R113.516419 February 21, 2014

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There are several examples of dramatic genomic changes that appear when cells are reprogrammed. Studies of some trinucleotide repeat diseases have reported changes in the repeat length following reprogramming. Specifically, in Friedreich ataxia, the GAA/TTC triplet repeat length in the FXN (frataxin) gene appeared to change following reprogramming of patient fibroblasts

Although the probability of an FDA-approved hPSC-derived cell therapy causing harm to a patient appears to be low, the consequences of adverse events are enormous. There is an important lesson from the failures in early gene therapy trials. If even one patient is harmed in an FDA-approved trial using hPSC derivatives, all further trials will be in serious jeopardy, and the promise of stem cell therapy will be put on indefinite hold.

The Neuroprotective Role of Acupuncture and Activation of the BDNF Signaling Pathway

The Neuroprotective Role of Acupuncture and Activation of the BDNF Signaling Pathway. Lin, Dong; De La Pena, Ike; Lin, Lili; Zhou, Shu-Feng; Borlongan, Cesar V.; Cao, Chuanhai; International Journal of Molecular Sciences. 2014; 15(2):3234-3252.

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Global Identification of Genes Affecting Iron-Sulfur Cluster Biogenesis and Iron Homeostasis

Global Identification of Genes Affecting Iron-Sulfur Cluster Biogenesis and Iron Homeostasis . Ryota Hidese, Hisaaki Mihara, Tatsuo Kurihara and Nobuyoshi Esaki; J. Bacteriol. March 2014 vol. 196 no. 6 1238-1249; Published ahead of print 10 January 2014, doi: 10.1128/JB.01160-13

Drosophila models for studying iron-related neurodegenerative diseases.

Drosophila models for studying iron-related neurodegenerative diseases. Zhu ZJ, Wu KC, Qian ZM, Yung WH, Ke Y.; Acta Physiologica Sinica, February 25, 2014, 66(1): 47–54; DOI: 10.13294/j.aps.2014.0007 http://www.actaps.com.cn

4.1 FRDA Drosophila models


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Poster: BDNF function in health and disease

Poster: BDNF function in health and disease

This poster is freely available thanks to support from EVER Neuro Pharma.

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Characterization of biometal - profiles in neurological disorders

Characterization of biometal - profiles in neurological disorders. Stefanie Pfaender and Andreas M Grabrucker; Metallomics, 2014,
DOI: 10.1039/C4MT00008K

Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives

Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives. David Uguen, Thomas Lönngren, Yann Le Cam, Sarah Garner, Emmanuelle Voisin, Carlo Incerti, Marc Dunoyer and Moncef Slaoui; Orphanet Journal of Rare Diseases 2014, 9:20 doi:10.1186/1750-1172-9-20

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Nucleoside 5’-phosphorothioate derivatives are highly effective neuroprotectants

Nucleoside 5’-phosphorothioate derivatives are highly effective neuroprotectants. O. Danino, N. Giladi,S. Grossman, B. Fischer; Biochemical Pharmacology. Available online 15 February 2014. http://dx.doi.org/10.1016/j.bcp.2014.02.001