نتایج جستجو برای: inherited neurodevelopmental disease
تعداد نتایج: 1517926 فیلتر نتایج به سال:
Neurofibromatosis type 2 is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumors in the region of the cranial nerve VIII usually as schwannoma. We report here a 20-year-old woman with primary intracranial malignant nerve sheath tumor located in the left cerebellopontine angle. Histologically, the tumor showed malignant spindle c...
Inherited prion diseases are neurodegenerative disorders caused by autosomal dominant mutations in the human prion protein gene (PRNP). Kindred with inherited prion disease can show remarkable phenotypic variability that has yet to be explained. Here we report analysis of protease resistant disease-related prion protein (PrP(Sc)) isoforms from a range of inherited prion disease cases (point mut...
RNA splicing plays a critical role in the programming of neuronal differentiation and, consequently, normal human neurodevelopment, and its disruption may underlie neurodevelopmental and neuropsychiatric disorders. The RNA-binding protein, fox-1 homolog (RBFOX1; also termed A2BP1 or FOX1) is a neuron-specific splicing factor predicted to regulate neuronal splicing networks clinically implicated...
From development to disease When brain goes awry, whether in genes or cells circuits, neurodevelopmental disorders ensue. Klingler et al. review how disrupted leads clinical symptoms, with a particular focus on the linkage between cortical malformations and neuropsychiatric disorders. The complexity of developmental process may underlie variability symptoms. Science , this issue p. eaba4517
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید