Friday, April 4, 2014

Friedreich’s Ataxia: From Molecular Biology to the Quest for Therapies

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Friedreich’s Ataxia: From Molecular Biology to the Quest for Therapies ; Lecture abstract

Genetics of hereditary neurological disorders in children

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Genetics of hereditary neurological disorders in children . Yue Huang, Sui Yu, Zhanhe Wu, Beisha Tang; Translational Pediatrics, Vol 3, No ...

Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

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Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis . Carletti, B.; Pierma...

A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis

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A 7 year old girl with hypertrophic cardiomyopathy and progressive scoliosis . Radhika Dhamija, Salman Kirmani; Seminars in Pediatric Neurol...
Thursday, April 3, 2014

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

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Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associat...

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

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Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders . Pope Paul A, Miall R...
Wednesday, April 2, 2014

Friedreich’s Ataxia: FDA Orphan Drug Designations

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Friedreich’s Ataxia: FDA Orphan Drug Designations . The Orphan Druganaut Blog, March 25, 2014 Chart which identifies all FDA Orphan Drug D...

The role of frataxin in doxorubicin-mediated cardiac hypertrophy

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The role of frataxin in doxorubicin-mediated cardiac hypertrophy . Shravanthi Mouli, Gayani Nanayakkara, Rain Fu, Avery Berlin, Abdul Alasma...
Sunday, March 30, 2014

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration

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Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration . Nicole I. Wolf, Michel Koenig; Handbo...
Friday, March 28, 2014

HEART FAILURE BURDEN IN CHILDREN AND ADULTS WITH FRIEDREICH ATAXIA

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HEART FAILURE BURDEN IN CHILDREN AND ADULTS WITH FRIEDREICH ATAXIA . Carol Wittlieb-Weber, Joseph Rossano, David Lynch, Kimberly Lin; Journa...