Thursday, March 1, 2012

Cardiomyopathy in Friedreich's Ataxia: Exemplifying the Challenges Faced by the Cardiologists in the Management of Rare Diseases

CIRCULATIONAHA.112.095364 Published online before print February 29, 2012, doi: 10.1161/​CIRCULATIONAHA.112.095364

Morten Kvistholm Jensen; Henning Bundgaard
The Heart Centre, Rigshospitalet, Copenenhagen, Denmark

Keywords: Friedreich's ataxia (FA), cardiomyopathy, left ventricular hypertrophy (FA-CM), antioxidants, Idebenone, MICONOS study group.

Cardiomyopathy of Friedreich's Ataxia (FRDA).

Ir J Med Sci. 2012 Feb 29. [Epub ahead of print]

Payne RM, Peverill RE.
Indiana University School of Medicine, 1044 W Walnut, R4-302, Indianapolis, IN, 46202, USA, rpayne@iupui.edu.

No abstract available

Selecting and isolating colonies of human induced pluripotent stem cells reprogrammed from adult fibroblasts.

J Vis Exp. 2012 Feb 20;(60). pii: 3416. doi: 10.3791/3416.

Polak U, Hirsch C, Ku S, Gottesfeld J, Dent SY, Napierala M.
Department of Molecular Carcinogenesis and Center for Cancer Epigenetics, University of Texas M.D. Anderson Cancer Center.

Keywords: human adult fibroblasts, human induced pluripotent stem cells (hiPSC), retroviral vectors, Oct3/4, Sox2, Klf4, c-myc (OSKM), Friedreich ataxia.

The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation with Neurological Symptoms

CIRCULATIONAHA.111.059477, Published online before print February 29, 2012, doi: 10.1161/​CIRCULATIONAHA.111.059477

Original Research Article

The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation with Neurological Symptoms

Frank Weidemann 1; Christian Rummey 2; Bart Bijnens 3; Stefan Störk 1; Ruta Jasaityte 4; Jan Dhooge 4; Aigul Baltabaeva 5; George Sutherland 5; Jörg B. Schulz 5; Thomas Meier 2.
1 University of Würzburg, Würzburg, Germany; 2 Santhera Pharmaceuticals, Liestal, Switzerland; 3 ICREA - Universitat Pompeu Fabra, Barcelona, Spain & University of Leuven, Leuven, Belgium; 4 University of Leuven, Leuven, Belgium; 5 St. George's Hospital, London, United Kingdom; 6 University Hospital, RWTH Aachen & JARA-Brain, Aachen, Germany

KEYWORDS: Friedreich ataxia (FA), cardiomyopathy (FA-CM), standard echocardiography, color Doppler myocardial imaging (CDMI), cardiac magnetic resonance imaging (cMRI), electrocardiography (ECG), neurological function.