Low Bone Mineral Density in Friedreich Ataxia.

Low Bone Mineral Density in Friedreich Ataxia. Eigentler A1, Nachbauer W, Donnemiller E, Poewe W, Gasser RW, Boesch S.; Cerebellum. 2014 May 25. [Epub ahead of print]

Managing Dysphagia Through Diet Modifications

Managing Dysphagia Through Diet Modifications. Garcia, Jane Mertz PhD, CCC-SLP; Chambers, Edgar IV PhD; AJN, American Journal of Nursing: November 2010 - Volume 110 - Issue 11 - pp 26-33; doi: 10.1097/01.NAJ.0000390519.83887.02

Keywords: dysphagia, impaired swallowing, dietary modification, malnutrition, aspiration pneumonia

Tissue specificity in DNA repair: lessons from trinucleotide repeat instability

Tissue specificity in DNA repair: lessons from trinucleotide repeat instability. Vincent Dion; Trends in Genetics, Available online 16 May 2014, ISSN 0168-9525, http://dx.doi.org/10.1016/j.tig.2014.04.005.

Keywords: DNA repair; genome stability; trinucleotide repeat instability; base excision repair; single-strand break repair; nucleotide excision repair; tissue-specific DNA repair

Gene therapy protects heart in Friedreich's ataxia

Gene therapy protects heart in Friedreich's ataxia. Alexandra Flemming; Nature Reviews Drug Discovery (2014); doi:10.1038/nrd4346; Published online 23 May 2014

Herzbeteiligung bei Friedreich-Ataxie / Heart involvement in Friedreich's ataxia.

Herzbeteiligung bei Friedreich-Ataxie / Heart involvement in Friedreich's ataxia. Weidemann F, Scholz F, Florescu C, Liu D, Hu K, Herrmann S, Ertl G, Störk S.; Herz. 2014 May 23. DOI 10.1007/s00059-014-4097-y

[Article in German]

Keywords: Mitochondriale Funktion, Pathophysiologie, Frataxin, Kardiomyopathie, Herzinsuffizienz, Mitochondrial function, Pathophysiology, Frataxin, Cardiomyopathy, Heart failure

Spécificités de la prise en charge anesthésique chez les patients souffrant de maladie neurologique : éclairage sur l’anesthésie locorégionale/Anaesthetic management of patient with neurological disease: Focus on regional anaesthesia

Spécificités de la prise en charge anesthésique chez les patients souffrant de maladie neurologique : éclairage sur l’anesthésie locorégionale; Jean-Marc Malinovsky, Armine Hamidi, Chantal Lelarge, Catherine Boulay-Malinovsky, La Presse Médicale, Available online 20 May 2014, ISSN 0755-4982, http://dx.doi.org/10.1016/j.lpm.2013.11.028.

Anaesthetic management of patient with neurological disease: Focus on regional anaesthesia

Maladie de Friedreich: Les anesthésies locorégionales ne sont pas contre-indiquées et l’efficacité des anesthésies périmédullaires a déjà été rapportée.

Ophthalmic manifestations of inherited neurodegenerative disorders.

Ophthalmic manifestations of inherited neurodegenerative disorders. Kersten HM, Roxburgh RH, Danesh-Meyer HV; Nature Reviews Neurology (2014); doi:10.1038/nrneurol.2014.79; Published online 20 May 2014

Until recently, ocular motor abnormalities were the best-characterized signs of visual system damage in patients with FRDA, although afferent visual pathway abnormalities, including optic neuropathy, have also been described in up to two-thirds of affected individuals.

Epigenetic-based therapies for Friedreich ataxia

Epigenetic-based therapies for Friedreich ataxia. Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S and Pook MA. Front. Genet. 5:165. doi: 10.3389/fgene.2014.00165

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A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia

A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia. Wolfram Santner, Michael Schocke, Sylvia Boesch, Wolfgang Nachbauer and Karl Egger; Acta Radiologica Short Reports May 2014 3: 2047981614531573, first published on May 12, 2014 doi:10.1177/2047981614531573

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Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation. Martelli A and Puccio H (2014). Front. Pharmacol. 5:130. doi: 10.3389/fphar.2014.00130

Keywords: Friedreich Ataxia, frataxin, iron metabolism, iron-sulfur cluster, Mitochondria, Iron Metabolism Disorders

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