نتایج جستجو برای: ژن als
تعداد نتایج: 42849 فیلتر نتایج به سال:
BACKGROUND The homogeneous genotype and stereotyped phenotype of a unique familial form of amyotrophic lateral sclerosis (ALS) (patients homozygous for aspartate-to-alanine mutations in codon 90 (homD90A) superoxide dismutase 1) provides an ideal model for studying genotype/phenotype interactions and pathological features compared with heterogeneous apparently sporadic ALS. The authors aimed to...
Amyotrophic lateral sclerosis (ALS) is an adult-onset disease characterized by the selective degeneration of motor neurons in the brain and spinal cord progressively leading to paralysis and death. Current diagnosis of ALS is based on clinical assessment of related symptoms. The clinical manifestations observed in ALS appear relatively late in the disease course after degeneration of a signific...
PURPOSE The Kii Peninsula of Japan, together with Guam and West New Guines, has one of the highest incidences of amyotrophic lateral sclerosis (Kii ALS) in the world. There is a controversy whether the etiology is the same or not between sporadic ALS and Kii ALS. Skin studies from patients with sporadic ALS have shown unique pathological and biochemical abnormalities. However, there has been no...
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle ge...
We investigated the role of the immune system in the pathogenesis of amyotrophic lateral sclerosis (ALS) by studying the long-term consequences of ALS immunoglobulin (Ig) application on the levator auris muscle of the mouse. We applied Ig from seven ALS patients, four disease controls, and a pool of normal Ig (6 mg of Ig in 2 weeks) by subcutaneous injection; removed the muscles 4 to 12 weeks a...
وراثت مقاومت سفیدبالک گلخانه، Trialeurodes vaporariorum Westwood (Hemiptera: Aleyrodidae)، به دو ترکیب ایمیداکلوپرید و کلرپایریفوس مورد مطالعه قرار گرفت. در این پژوهش، از جمعیت فیلستان ورامین (FL) عنوان والد مقاوم فردیس کرج (FR) حساس استفاده شد. مقدار ترتیب حدودا 62/13 91/14 برابر بود. عدم وجود اختلاف معنیدار LC50 روی تلاقیهای F1 (R♂×S♀) Fʹ1 (R♀×S♂) نشان داد که T. نوع اتوزومی (غیرجنسی) است. ه...
During the transition from pregnancy to lactation, dairy cows experience a 70% reduction in plasma IGF-I. This reduction has been attributed to decreased hepatic IGF-I production. IGF-I circulates predominantly in multi-protein complexes consisting of one molecule each of IGF-I, IGF binding protein-3 and the acid labile subunit (ALS). Recent studies in the mouse have shown that absence of ALS r...
Recently, C9orf72 hexanucleotide (GGGGCC) repeat expansion in intron 1 was reported to be the most common cause of sporadic and familial amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) in the Caucasian population. The frequency of the intronic repeat expansion is up to 21%-57% in familial ALS and 3%-21% in sporadic ALS.In the Japanese population, the C9orf72 repeat expansion w...
Amyotrophic lateral sclerosis (ALS) is recognized as a motor neuron disorder affecting the structure and function of the brain and neuromuscular system. Very little is known, however, that the nervous system degeneration is dependent on disease phenotypes of ALS. The purpose of this study was to determine the degree of brain white matter (WM) structure degeneration in four ALS patient groups ch...
INTRODUCTION A decreased cerebrospinal fluid (CSF) p-Tau181 to total tau ratio (p/t-tau) is a biomarker for frontotemporal lobar degeneration with TDP43 inclusions (FTLD-TDP) and for amyotrophic lateral sclerosis (ALS). CSF light chain neurofilaments (NfL) are increased in ALS. We examined whether CSF p/t-tau and NfL are related to ALS status in FTLD-TDP. METHODS We compared CSF p/t-tau and N...
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