A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis

A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis. Radhika Dhamija, Salman Kirmani; Seminars in Pediatric Neurology, Available online 3 April 2014, ISSN 1071-9091, http://dx.doi.org/10.1016/j.spen.2014.04.003.

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.

Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia. Yanhao Lai, Jill M. Beaver, Karla Lorente, Jonathan Melo, Shyama Ramjagsingh, Irina U. Agoulnik, Zunzhen Zhang, Yuan Liu; PLoS One. 2014 Apr 1;9(4):e93464. doi: 10.1371/journal.pone.0093464. eCollection 2014.

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Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders

Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders . Pope Paul A, Miall R Chris; Front. Psychiatry, 02 April 2014 | doi: 10.3389/fpsyt.2014.00033

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Friedreich’s Ataxia: FDA Orphan Drug Designations

Friedreich’s Ataxia: FDA Orphan Drug Designations. The Orphan Druganaut Blog, March 25, 2014

Chart which identifies all FDA Orphan Drug Designations (ODDs) for FRDA in ascending date order

The role of frataxin in doxorubicin-mediated cardiac hypertrophy

The role of frataxin in doxorubicin-mediated cardiac hypertrophy . Shravanthi Mouli, Gayani Nanayakkara, Rain Fu, Avery Berlin, Abdul Alasmari, Robert Arnold and Rajesh Amin; The FASEB Journal vol. 28 no. 1 Supplement 648.6, April 2014

Keywords: Heart failure, cancer chemotherapeutic, doxorubicin (DOX), cardiac hypertrophy, Frataxin (FXN)

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. Nicole I. Wolf, Michel Koenig; Handbook of Clinical Neurology, Volume 113, 2013, Pages 1869–1878; Pediatric Neurology Part III. http://dx.doi.org/10.1016/B978-0-444-59565-2.00057-5

The hereditary ataxias with onset in childhood are a group of heterogeneous disorders, usually with autosomal recessive inheritance. In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy.

HEART FAILURE BURDEN IN CHILDREN AND ADULTS WITH FRIEDREICH ATAXIA

HEART FAILURE BURDEN IN CHILDREN AND ADULTS WITH FRIEDREICH ATAXIA . Carol Wittlieb-Weber, Joseph Rossano, David Lynch, Kimberly Lin; Journal of the American College of Cardiology, Volume 63, Issue 12, Supplement, 1 April 2014, Pages A835; http://dx.doi.org/10.1016/S0735-1097(14)60835-4

"Attention to the degree of cardiac involvement is critical in the management of patients with FA."

Effects of cytosine methylation on transcription factor binding sites

Effects of cytosine methylation on transcription factor binding sites. Yulia A Medvedeva, Abdullah M Khamis, Ivan V Kulakovskiy, Wail Ba-Alawi1, Md Shariful I Bhuyan, Hideya Kawaji, Timo Lassmann, Matthias Harbers, Alistair RR Forrest, Vladimir B Bajic and The FANTOM consortium; BMC Genomics 2014, 15:119 doi:10.1186/1471-2164-15-119

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Keywords: DNA methylation; Transcription factor binding sites; Transcriptional regulation; CAGE; RRBS; CpG “traffic lights”; Bioinformatics; Computational biology

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter . Joseph P. Sarsero, Timothy P. Holloway, Lingli Li, David I. Finkelstein, Panos A. Ioanno; PLoS ONE 9(3): e93307. doi:10.1371/journal.pone.0093307

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Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia. Heidari MM , Khatami M, Pourakrami J.; Iran J Child Neurol. 2014 Winter; 8(1):32-36.

Three novel point mutations were found in patients heterozygous for the GAA repeat expansion, p.S81A, p.Y123D, and p.S192C.