Search Results - "Atakhorrami, Minoo"
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Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations
Published in International ophthalmology (01-10-2021)“…Purpose Primary congenital glaucoma (PCG) (OMIM#231,300) can be caused by pathogenic sequence variations in CYP1B1 , LTBP2 , MYOC and PXDN genes. The purpose…”
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A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations
Published in Molecular neurobiology (01-04-2018)“…In this study, the role of known Parkinson’s disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the…”
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RIT2 Polymorphisms: Is There a Differential Association?
Published in Molecular neurobiology (01-04-2017)“…Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells…”
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A genetic variant in CAMKK2 gene is possibly associated with increased risk of bipolar disorder
Published in Journal of Neural Transmission (01-03-2016)“…A recent large-scale study have reported that rs1063843, a single nucleotide polymorphism located in the CAMKK2 gene is highly associated with schizophrenia in…”
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The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson’s disease in Iranian population
Published in Neurological sciences (01-05-2016)“…Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder. Both genetic and environmental factors are involved in the etiology of the…”
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c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness
Published in European journal of medical genetics (01-02-2016)“…Abstract Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic…”
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