Friday, August 22, 2014

Preimplantation genetic diagnosis for inherited neurological disorders

Preimplantation genetic diagnosis for inherited neurological disorders. Ilan Tur-Kaspa, Roohi Jeelani
& P. Murali Doraiswamy, Nature Reviews Neurology 10, 417–424 (2014), doi:10.1038/nrneurol.2014.84

Preimplantation genetic diagnosis (PGD) is an option for couples at risk of having offspring with an inherited debilitating or fatal neurological disorder who wish to conceive a healthy child.

The influence of the European paediatric regulation on marketing authorisation of orphan drugs for children

The influence of the European paediatric regulation on marketing authorisation of orphan drugs for children. Annemarie Rosan Kreeftmeijer-Vegter, Anthonius de Boer, Roselinda H van der Vlugt-Meijer and Peter J de Vries; Orphanet Journal of Rare Diseases 2014, 9:120 doi:10.1186/s13023-014-0120-x

OPEN ACCESS; FULL TEXT PDF

Wednesday, August 13, 2014

STATegics has identified CNS-available small molecule erythropoietin (EPO) Allomimetics that selectively activate the tissue-protective EPO receptor

STATegics has identified CNS-available small molecule erythropoietin (EPO) Allomimetics that selectively activate the
tissue-protective EPO receptor
.

The compounds also demonstrate a favorable safety profile and penetrance to the brain at pharmacologically relevant concentrations, and are being investigated for treatment of PD, Friedreich’s ataxia, and acute kidney injury.

Tuesday, August 12, 2014

Electrochemical impedance sensor based on small molecule modified Au electrode for the recognition of a trinucleotide repeats

Electrochemical impedance sensor based on small molecule modified Au electrode for the recognition of a trinucleotide repeats .
Hanping He, Xiaoqian Peng, Min Huang, Gang Chang, Xiuhua Zhang and Shengfu Wang; Analyst, 2014, Accepted Manuscript,
DOI: 10.1039/C4AN00853G; Received 12 May 2014, Accepted 10 Aug 2014

The electrochemical impedance sensor provides the simple and rapid method to detect trinucleotide repeats without requiring labelling and immobilizations of DNA, making it promising for the early diagnosis of the neurodegenerative diseases

Deferiprone in Friedreich’s Ataxia: A six-month randomized controlled trial

Deferiprone in Friedreich’s Ataxia: A six-month randomized controlled trial. Massimo Pandolfo, Javier Arpa, Martin B. Delatycki, Kim Hanh Le Quan Sang, Caterina Mariotti, Arnold Munnich, Irene Sanz-Gallego, Geneieve Tai, Mark A. Tarnopolsky, Franco Taroni, Michael Spino and Fernando Tricta; Annals of Neurology, DOI: 10.1002/ana.24248. Accepted manuscript online: 11 AUG 2014 09:41AM EST | DOI: 10.1002/ana.24248

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools. Geneieve Tai, Louise A Corben, Lyle Gurrin, Eppie M Yiu, Andrew Churchyard, Michael Fahey, Brian Hoare, Sharon Downie, Martin B Delatycki; J Neurol Neurosurg Psychiatry jnnp-2014-308022Published Online First: 11 August 2014 doi:10.1136/jnnp-2014-308022

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Yogesh K. Chutake, Christina Lam, Whitney N. Costello, Michael Anderson and Sanjay I. Bidichandani; Ann Neurol. http://dx.doi.org/10.1002/ana.24249; 2014