نتایج جستجو برای: hereditary spastic paraplegia

تعداد نتایج: 94252  

Journal: :The Journal of clinical investigation 2013
Christian Beetz Nicole Koch Mukhran Khundadze Geraldine Zimmer Sandor Nietzsche Nicole Hertel Antje-Kathrin Huebner Rizwan Mumtaz Michaela Schweizer Elisabeth Dirren Kathrin N Karle Andrey Irintchev Victoria Alvarez Christoph Redies Martin Westermann Ingo Kurth Thomas Deufel Michael M Kessels Britta Qualmann Christian A Hübner

Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and cause a spastic movement disorder. HSP is linked to mutations in several loci known collectively as the spastic paraplegia genes (SPGs). We identified a heterozygous rec...

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