<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Amara, Abdelbasset</style></author><author><style face="normal" font="default" size="100%">Adala, Labiba</style></author><author><style face="normal" font="default" size="100%">Ben Charfeddine, Ilhem</style></author><author><style face="normal" font="default" size="100%">Mamaï, Ons</style></author><author><style face="normal" font="default" size="100%">Mili, Amira</style></author><author><style face="normal" font="default" size="100%">Lazreg, Taheni Ben</style></author><author><style face="normal" font="default" size="100%">H&#039;mida, Dorra</style></author><author><style face="normal" font="default" size="100%">Amri, Fathi</style></author><author><style face="normal" font="default" size="100%">Salem, Najla</style></author><author><style face="normal" font="default" size="100%">Boughammura, Lamia</style></author><author><style face="normal" font="default" size="100%">Saad, Ali</style></author><author><style face="normal" font="default" size="100%">Gribaa, Moez</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.</style></title><secondary-title><style face="normal" font="default" size="100%">Eur J Paediatr Neurol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Eur. J. Paediatr. Neurol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, Pair 5</style></keyword><keyword><style  face="normal" font="default" size="100%">Exons</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Deletion</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Dosage</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Membrane Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Multiplex Polymerase Chain Reaction</style></keyword><keyword><style  face="normal" font="default" size="100%">Nerve Tissue Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Neuronal Apoptosis-Inhibitory Protein</style></keyword><keyword><style  face="normal" font="default" size="100%">Occludin</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Spinal Muscular Atrophies of Childhood</style></keyword><keyword><style  face="normal" font="default" size="100%">Survival of Motor Neuron 1 Protein</style></keyword><keyword><style  face="normal" font="default" size="100%">Survival of Motor Neuron 2 Protein</style></keyword><keyword><style  face="normal" font="default" size="100%">Telomere</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Tunisia</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">03/2012</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">16</style></volume><pages><style face="normal" font="default" size="100%">167-74</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVES: &lt;/b&gt;Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which is characterized by a high clinical variability with severe, intermediate, mild and adult forms. These forms are caused, in 95% of cases, by a homozygous deletion of exon 7 of SMN1 gene. Our purpose was the determination of a possible genotype-phenotype correlation between the copy number of SMN2, NAIP, p44, H4F5 and occludin genes localized in the same SMN1 region (5q13) and the severity of the disease in SMA Tunisian patients.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;PATIENTS AND METHODS: &lt;/b&gt;Twenty six patients affected by SMA were enrolled in our study. MLPA and QMPSF were used to measure copy numbers of these genes.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We found that 31.3% of type I patients carried one copy of SMN2, while all patients of other forms had at least 2 copies. NAIP was absent in 87.5% of type I patients. Furthermore, all SMA type I patients had one copy of H4F5. No correlation was found for p44 and occludin genes.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;There is a close relationship between SMN2, NAIP and H4F5 gene copy number and SMA disease severity, which is compatible with the previous reports.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/21821450?dopt=Abstract&lt;/p&gt;
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