نتایج جستجو برای: ژن smn1

تعداد نتایج: 16245  

Journal: :Journal of Entomological Society of Iran 2023

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...

2017

Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...

Journal: :Current opinion in molecular therapeutics 2009
Bernard Khoo Adrian R Krainer

Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based compounds that target key elements in the pre-mRNA to control splicing in the nucleus. In this review, recent developments in splicing therapeutics for...

Journal: :Brain & development 2008
José L Fernández-Torre José L Teja Alvaro Castellanos Javier Figols Tomás Obeso Rosa Arteaga

We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig-Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory-motor axonal neuropath...

Journal: :The Journal of clinical investigation 2011
Kathryn J Swoboda

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, resulting in progressive muscular atrophy and weakness. SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene. SMN upregulation is a promising and potent treatment strategy for this currently incurab...

2010
Rashmi Kothary

10.2217/FNL.10.57 © 2010 Rashmi Kothary Spinal muscular atrophy (SMA) is the most com‐ mon genetic disease resulting in infant death, affecting approximately 1 in 6000–10,000 births [1,2]. This autosomal recessive disease is characterized by a loss of a‐motor neurons in the spinal cord and brain stem, accompanied by atrophy of the limbs and trunk musculature, which eventually lead to paralysis ...

2017

Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...

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