Clinical application of the molecular diagnosis of spinal muscular atrophy: Deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes

Neuronal Apoptosis Inhibitory Protein

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

Advanced Biomedical Research ◽

10.4103/2277-9175.125872 ◽

2014 ◽

Vol 3 (1) ◽

pp. 74 ◽

Cited By ~ 5

Author(s):

Nayereh Nouri ◽

Maryam Sedghi ◽

Mahdiyeh Behnam ◽

Esmat Fazel ◽

Mansoor Salehi ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Neuronal Apoptosis ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Phenotype Correlation ◽

Inhibitory Protein ◽

Genotype Phenotype Correlation ◽

Neuronal Apoptosis Inhibitory Protein

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy

Medicine ◽

10.1097/md.0000000000018809 ◽

2020 ◽

Vol 99 (3) ◽

pp. e18809 ◽

Cited By ~ 1

Author(s):

Yinhong Zhang ◽

Jing He ◽

Yunqian Zhang ◽

Li Li ◽

Xinhua Tang ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Neuronal Apoptosis ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Inhibitory Protein ◽

Survival Motor Neuron Gene ◽

Clinical Phenotypes ◽

Copy Numbers ◽

Neuronal Apoptosis Inhibitory Protein

Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents

Human Genetics ◽

10.1007/s004390050555 ◽

1997 ◽

Vol 100 (5-6) ◽

pp. 577-581 ◽

Cited By ~ 19

Author(s):

J.-G. Chang ◽

Yuh-Jyh Jong ◽

Shuan-Pei Lin ◽

Bing-Wen Soong ◽

Chang-Hai Tsai ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Molecular Analysis ◽

Neuronal Apoptosis ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Inhibitory Protein ◽

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Human Mutation ◽

10.1002/(sici)1098-1004(200003)15:3<228::aid-humu3>3.0.co;2-9 ◽

2000 ◽

Vol 15 (3) ◽

pp. 228-237 ◽

Cited By ~ 347

Author(s):

Brunhilde Wirth

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Autosomal Recessive ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Mutation Spectrum ◽

Survival Motor Neuron Gene

The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: Implications for pre-clinical studies and clinical trials for spinal muscular atrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2014.05.013 ◽

2014 ◽

Vol 24 (11) ◽

pp. 973-977 ◽

Cited By ~ 4

Author(s):

Gillian Hunter ◽

Sarah L. Roche ◽

Eilidh Somers ◽

Heidi R. Fuller ◽

Thomas H. Gillingwater

Keyword(s):

Clinical Trials ◽

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Clinical Studies ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Protein Levels ◽

Smn Protein

Imaging Flow Cytometry Analysis to Identify Differences of Survival Motor Neuron Protein Expression in Patients With Spinal Muscular Atrophy

Pediatric Neurology ◽

10.1016/j.pediatrneurol.2016.05.009 ◽

2016 ◽

Vol 61 ◽

pp. 70-75 ◽

Cited By ~ 3

Author(s):

Reiko Arakawa ◽

Masayuki Arakawa ◽

Kaori Kaneko ◽

Noriko Otsuki ◽

Ryoko Aoki ◽

...

Keyword(s):

Flow Cytometry ◽

Protein Expression ◽

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Flow Cytometry Analysis ◽

Imaging Flow Cytometry ◽

Splicing regulation of the Survival Motor Neuron genes and implications for treatment of spinal muscular atrophy

Frontiers in Bioscience ◽

10.2741/3670 ◽

2010 ◽

Vol 15 (1) ◽

pp. 1191 ◽

Cited By ~ 27

Author(s):

Thomas, W. Bebee

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

Splicing Regulation

Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells

Biochemistry and Biophysics Reports ◽

10.1016/j.bbrep.2015.10.012 ◽

2015 ◽

Vol 4 ◽

pp. 351-356 ◽

Cited By ~ 2

Author(s):

Nur Imma Fatimah Harahap ◽

Dian Kesumapramudya Nurputra ◽

Mawaddah Ar Rochmah ◽

Ai Shima ◽

Naoya Morisada ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Protein Degradation ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽

A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein

PLoS ONE ◽

10.1371/journal.pone.0201764 ◽

2018 ◽

Vol 13 (8) ◽

pp. e0201764 ◽

Cited By ~ 6

Author(s):

Noriko Otsuki ◽

Reiko Arakawa ◽

Kaori Kaneko ◽

Ryoko Aoki ◽

Masayuki Arakawa ◽

...

Keyword(s):

Blood Cell ◽

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Cell Population ◽

Peripheral Blood ◽

Muscular Atrophy ◽

Peripheral Blood Cell ◽

Survival Motor Neuron ◽

Survival motor neuron protein regulates oxidative stress and inflammatory response in microglia of the spinal cord in spinal muscular atrophy

Journal of Pharmacological Sciences ◽

10.1016/j.jphs.2020.09.001 ◽

2020 ◽

Vol 144 (4) ◽

pp. 204-211

Author(s):

Shiori Ando ◽

Daiki Osanai ◽

Kei Takahashi ◽

Shinsuke Nakamura ◽

Masamitsu Shimazawa ◽

...

Keyword(s):

Oxidative Stress ◽

Spinal Cord ◽

Inflammatory Response ◽

Spinal Muscular Atrophy ◽

Motor Neuron ◽

Muscular Atrophy ◽

Survival Motor Neuron ◽