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The water extract of Liuwei dihuang possesses multi-protective properties on neurons and muscle tissue against deficiency of survival motor neuron protein

Phytomedicine, 2017
Background: Deficiency of survival motor neuron (SMN) protein, which is encoded by the SMN1 and SMN2 genes, induces widespread splicing defects mainly in spinal motor neurons, and leads to spinal muscular atrophy (SMA). Currently, there is no effective
Yu-Ting Tseng, Yuh-Jyh Jong, Fang-Rong Chang   +2 more
exaly   +2 more sources

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Association of Copy Numbers of Survival Motor Neuron Gene 2 and Neuronal Apoptosis Inhibitory Protein Gene With the Natural History in a Chinese Spinal Muscular Atrophy Cohort

Journal of Child Neurology, 2014
We evaluated survival motor neuron 2 ( SMN2) and neuronal apoptosis inhibitory protein ( NAIP) gene copy distribution and the association of copy number with survival in 232 Chinese spinal muscular atrophy (SMA) patients. The SMN2 and NAIP copy numbers correlated positively with the median onset age (r = 0.72 and 0.377).
Yu-jin, Qu, Xiu-shan, Ge, Jin-li, Bai, Li-wen, Wang, Yan-yan, Cao, Yan-yu, Lu, Yu-wei, Jin, Hong, Wang, Fang, Song   +8 more
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The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding.

Human molecular genetics, 1998
Spinal muscular atrophy (SMA) is a motor neuron disorder resulting from anterior horn cell death. Survival motor neuron ( SMN ) is the SMA-determining gene and is deleted or gene converted in >95% of SMA patients. The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing ...
C L, Lorson, E J, Androphy
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A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein

Cell Reports, 2021
Nikki M Mccormack, Eugen Buehler, Kenneth H Fischbeck   +2 more
exaly  

Progression and survival of patients with motor neuron disease relative to their fecal microbiota

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Shyuan T Ngo, Restuadi Restuadi, Fleur C Garton   +2 more
exaly  

Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human

International Journal of Molecular Sciences, 2021
Wei-Fang Chang, Min Peng, Ji-Long Liu
exaly  

Impact of the metabolic syndrome on prevalence and survival in motor neuron disease: a retrospective case series

Metabolic Brain Disease, 2023
Jee Eun Oh, Jee Ah Oh, Matthew C L Phillips   +2 more
exaly  

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification

Genetics in Medicine, 2007
Wuh-Liang Hwu, Tsang-Ming Ko, Hwu Wuh-Liang   +2 more
exaly  

Survival and prognostic factors of motor neuron disease in a multi-ethnic Asian population

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2011
Khean Jin Goh, Nortina Shahrizaila, Chiu-Wan Ng   +2 more
exaly  

Homozygous Survival Motor Neuron 2 Gene Deletion and Sporadic Lower Motor Neuron Disease in Children

Journal of Child Neurology, 2013
Lu Liping
exaly