نتایج جستجو برای: muscular dystrophy
تعداد نتایج: 52759 فیلتر نتایج به سال:
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of ...
近年，筋ジストロフィーの原因遺伝子が続々と明らかになり，遺伝子異常に基づく診断，分類がなされるようになってきている．また，各原因遺伝子に対する研究は，疾患の病態解明や治療法開発を可能とし，特に筋ジストロフィーの中で最も頻度の高いDuchenne型筋ジストロフィーでは，2020年に日本発のエクソンスキッピング治療薬が上市され，保険診療下で治療可能となった．
The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized b...
Duchenne muscular dystrophy (DMD) is a fatal and incurable muscle degenerative disorder. We identify a function of the protease urokinase plasminogen activator (uPA) in mdx mice, a mouse model of DMD. The expression of uPA is induced in mdx dystrophic muscle, and the genetic loss of uPA in mdx mice exacerbated muscle dystrophy and reduced muscular function. Bone marrow (BM) transplantation expe...
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