Progressive neuroanatomical changes caused by Grin1 loss-of-function mutation
نویسندگان
چکیده
منابع مشابه
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).
OBJECTIVE To describe the decline of vestibulocochlear function in a man with vestibulocochlear dysfunction caused by a Pro51Ser mutation within the COCH gene on chromosome 14q12-13 (DFNA9). METHODS A follow-up of more than 15 years was performed in a single case. Clinical investigations were supplemented by oculomotor, vestibular, and auditory tests. RESULTS A 50-year-old man had had progr...
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Itch is a common experience. It can occur in the course of systemic diseases and can be a manifestation of allergies or a consequence of diseases affecting the somatosensory pathway. We describe a kindred characterized by paroxysmal itch caused by a variant in SCN9A gene encoding for the Nav1.7 sodium channel. Patients underwent clinical and somatosensory profile assessment by quantitative sens...
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1. Gagné SE, Larson MG, Pimstone SN et al. A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study. Clin Genet 1999: 55 (6): 450–454. 2. Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations inPCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006: 354 (12): 1264–1272. 3...
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بیمه گران همیشه بابت خسارات بیمه نامه های تحت پوشش خود نگران بوده و روش هایی را جستجو می کنند که بتوانند داده های خسارات گذشته را با هدف اتخاذ یک تصمیم بهینه مدل بندی نمایند. در این پژوهش توزیع های فیزتایپ در مدل بندی داده های خسارات معرفی شده که شامل استنباط آماری مربوطه و استفاده از الگوریتم em در برآورد پارامترهای توزیع است. در پایان امکان استفاده از این توزیع در مدل بندی داده های گروه بندی ...
Progressive loss of retinal ganglion cell function precedes structural loss by several years in glaucoma suspects.
PURPOSE We determined the time lag between loss of retinal ganglion cell function and retinal nerve fiber layer (RNFL) thickness. METHODS Glaucoma suspects were followed for at least four years. Patients underwent pattern electroretinography (PERG), optical coherence tomography (OCT) of the RNFL, and standard automated perimetry testing at 6-month intervals. Comparisons were made between chan...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2019
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2019.104527