نتایج جستجو برای: leukodystrophy
تعداد نتایج: 2650 فیلتر نتایج به سال:
Globoid cell leukodystrophy (Krabbe's disease) is an autosomal recessive neurodegenerative disorder that results from the deficiency of galactosylceramidase, a lysosomal enzyme involved in active myelination. Due to the progressive, lethal nature of this disease and the limited treatment options available, multiple laboratories are currently exploring novel therapies using the mouse model of gl...
Duplication of the gene encoding lamin B1 (LMNB1) with increased mRNA and protein levels has been shown to cause severe myelin loss in the brains of adult-onset autosomal dominant leukodystrophy patients. Similar to many neurodegenerative disorders, patients with adult-onset autosomal dominant leukodystrophy are phenotypically normal until adulthood and the defect is specific to the central ner...
We performed a blinded study on 5 cases of hereditary diffuse leukoencephalopathy with spheroids and 10 cases of the pigmentary type of orthochromatic leukodystrophy, 6 of the latter having a family history of neurologic illness. Patients presented in the third to sixth decade with behavioral, cognitive, and motor symptoms. All cases displayed widespread myelin loss, predominantly frontotempora...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید