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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Project Information:IRON IN THE PATHOGENESIS OF FRIEDREICH'S ATAXIA

Project Information:IRON IN THE PATHOGENESIS OF FRIEDREICH'S ATAXIA. Research Portfolio Online Reporting Tools (NIH), Project Number:5R01NS069454-05; Project Leader: KOEPPEN, ARNULF HANS-WERNER, Awardee Organization: ALBANY RESEARCH INSTITUTE, INC.

Project Information: TUNABLE FRATAXIN REPLACEMENT THERAPY

Project Information: TUNABLE FRATAXIN REPLACEMENT THERAPY . Research Portfolio Online Reporting Tools (NIH), Project Number:1R43NS087730-01; Project Leader: MENDELSOHN, ANDREW R, Awardee Organization: PANORAMA RESEARCH, INC.

PATENT: DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA

DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA . Bibliographic data: US2014128455 (A1) ― 2014-05-08

Inventor(s): ZAIN-LUQMAN RULA [SE]; BERGQUIST HELEN [SE]; GOOD LIAM [GB] +

Shining a light in the black box of orphan drug pricing

Shining a light in the black box of orphan drug pricing.
Eline Picavet, Thomas Morel, David Cassiman and Steven Simoens; Orphanet Journal of Rare Diseases 2014, 9:62 doi:10.1186/1750-1172-9-62

This study has shown that prices of orphan drugs are influenced by factors such as the availability of an alternative drug treatment, repurposing, etc. Current debate about the affordability of orphan drugs highlights the need for more transparency in orphan drug price setting.

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