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The purpose of the Neurogenetics Branch is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Particular areas of research interest in the Fischbeck lab include the polyglutamine expansion diseases (Huntington's disease, Kennedy's disease, and spinocerebellar ataxia), spinal muscular atrophy, Charcot-Marie-Tooth disease, muscular dystrophy, hereditary motor neuron disease, and Friedreich's ataxia. A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. The disease mechanisms are studied and potential treatments are evaluated in cell culture and other model systems. Clinical trials have been done for Duchenne muscular dystrophy, Friedreich's ataxia, and Kennedy's disease. Efforts are also currently underway to develop new treatments for spinal muscular atrophy.
研究兴趣
论文共 23 篇作者统计合作学者相似作者
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Guida Landouré, Youssoufa Maiga,Oumar Samassékou, Karamoko Nimaga,Mahamadou Traoré,Kenneth H Fischbeck
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Vester Aimée, Velez-Ruiz Gisselle,McLaughlin Heather M, Null Null,Lupski James R,Talbot Kevin,Vance Jeffery M,Züchner Stephan, Roda Ricardo H,Fischbeck Kenneth H,Biesecker Leslie G,Nicholson Garth,
Landouré Guida, Knight Melanie A,Stanescu Horia,Taye Addis A,Shi Yijun,Diallo Oumarou,Johnson Janel O,Hernandez Dena,Traynor Bryan J,Biesecker Leslie G, Null Null,Elkahloun Abdel,
Timmons Margaret M,Garbern James,Robey Pamela G,Singleton Andrew,Hernandez Dena G,Roodman G David,Zaltz Ira, Mumm Steven,Wilcox William,Fischbeck Kenneth H,Brady Roscoe O, Knight Melanie A
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