how to cite this article: houshmand m, tonekaboni sh, karimzadeh p, aryani o, ashrafimr, salehpour sh, badv sh, shakiba m, alaee mr, farshid sh. lysosomal storage disease iniran. (report of molecular study). iran j child neurol autumn 2012; 6:4 (suppl. 1): 22.   pls see pdf.

Background and Objectives: As an autoimmune disease, celiac is triggered by exposure to dietary gluten in genetically susceptible individuals, leading to various gastrointestinal and non-gastrointestinal symptoms. The aim of the current study was to accurately investigate epidemiology of the celiac disease in Hamadan Province, Iran. Materials and Methods: This study was carried out as a case s...

Do genes presenting variation that has been linked to human disease have different biological properties than genes that have never been related to disease? What is the relationship between disease and fitness? Are the evolutionary pressures that affect genes linked to Mendelian diseases the same to those acting on genes whose variation contributes to complex disorders? The answers to these que...

A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans be...

Intrinsically disordered proteins (IDPs) constitute a recently recognized realm of atypical biologically active proteins that lack stable structure under physiological conditions, but are commonly involved in such crucial cellular processes as regulation, recognition, signaling and control. IDPs are very common among proteins associated with various diseases. Recently, we performed a systematic...

background: as a dna repair protein, flap endonuclease 1 is a key enzyme in maintaining genomic instability and preventing carcinogenesis. two single nucleotide polymorphisms (snps), -69g>a and 4150g>t are associated with dna damage. this meta-analysis is to evaluate the genetic effects of fen1 gene snps (-69g/a and 4150g/t) and the susceptibility to diseases, including glioma risk, breast canc...

how to cite this article: karimzadeh p, jafari n, nejad biglari hb, jabbehdari s, alizadeh m, alizadeh gh, nejad biglari hm, sanii s. the clinical features and diagnosis of adrenoleukodystrophy: a case series of iranian family. iran j child neurol. winter 2016; 10(1):61-64. abstract objective adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath brea...

In this issue of Neuron, Cruchaga et al. (2013) identify genetic variability linked to altered levels of tau protein in cerebrospinal fluid. They show that the same genetic variants can also confer risk for Alzheimer's disease.