Sunday, March 31, 2013

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

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Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases . Jacques P Tremblay, Xiao...

Emery and Rimoin's Principles and Practice of Medical Genetics

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Chapter 23- Diagnostic Molecular Genetics . Wayne W. Grody, Joshua L. Deignan; Emery and Rimoin's Principles and Practice of Medical Gen...

Hereditary ataxias: overview.

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Hereditary ataxias: overview. Jayadev S, Bird TD; Genet Med advance online publication 28 March 2013 Genetics in Medicine (2013); doi:10.10...
Thursday, March 28, 2013

Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia

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Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich’s ataxia . Sirena Soriano, José V. Lloren...

Edison Pharmaceuticals, Inc. signs licensing agreement with Dainippon Sumitomo Pharma Co., Ltd. for development & commercialization of orphan mitochondrial and adult central nervous system disease drugs

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Edison Pharmaceuticals, Inc. signs licensing agreement with Dainippon Sumitomo Pharma Co., Ltd. for development & commercialization of o...
Tuesday, March 26, 2013

Synthesis of Benzoquinone Antioxidants and a Bleomycin Disaccharide Library

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Synthesis of Benzoquinone Antioxidants and a Bleomycin Disaccharide Library . Mathilakathu Madathil, Manikandadas (Author) / Hecht, Sidney M...

Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol

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Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic p...
Monday, March 25, 2013

Le phénotype atypique des maladies de Friedreich de début tardif et très tardif

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Le phénotype atypique des maladies de Friedreich de début tardif et très tardif . C. Lecocq, K. Nguyen, J.-P. Azulay, A. Durr, M. Pandolfo, ...
Saturday, March 23, 2013

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

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The optic nerve: A “mito-window” on mitochondrial neurodegeneration . Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia V...
Friday, March 22, 2013

A New Assessment Tool for Ataxia Syndromes: The "STAND" (Scale To Assess Ataxia and Neurologic Dysfunction)

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A New Assessment Tool for Ataxia Syndromes: The "STAND" (Scale To Assess Ataxia and Neurologic Dysfunction) . Theresa Zesiewicz, J...