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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Calame DG, et al. Among authors: tafakhori a. Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385670 Free PMC article.
The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson's disease in Iranian population.
Shahmohammadibeni N, Rahimi-Aliabadi S, Jamshidi J, Emamalizadeh B, Shahmohammadibeni HA, Zare Bidoki A, Akhavan-Niaki H, Eftekhari H, Abdollahi S, Shekari Khaniani M, Shahmohammadibeni M, Fazeli A, Motallebi M, Taghavi S, Ahmadifard A, Shafiei Zarneh AE, Andarva M, Dadkhah T, Khademi E, Alehabib E, Rahimi M, Tafakhori A, Atakhorrami M, Darvish H. Shahmohammadibeni N, et al. Among authors: tafakhori a. Neurol Sci. 2016 May;37(5):731-6. doi: 10.1007/s10072-015-2420-x. Epub 2016 Jan 5. Neurol Sci. 2016. PMID: 26732583
RIT2 Polymorphisms: Is There a Differential Association?
Emamalizadeh B, Jamshidi J, Movafagh A, Ohadi M, Khaniani MS, Kazeminasab S, Biglarian A, Taghavi S, Motallebi M, Fazeli A, Ahmadifard A, Shahidi GA, Petramfar P, Shahmohammadibeni N, Dadkhah T, Khademi E, Tafakhori A, Khaligh A, Safaralizadeh T, Kowsari A, Mirabzadeh A, Zarneh AES, Khorrami M, Shokraeian P, Banavandi MJS, Lima BS, Andarva M, Alehabib E, Atakhorrami M, Darvish H. Emamalizadeh B, et al. Among authors: tafakhori a. Mol Neurobiol. 2017 Apr;54(3):2234-2240. doi: 10.1007/s12035-016-9815-4. Epub 2016 Mar 3. Mol Neurobiol. 2017. PMID: 26941103
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Rahimi-Aliabadi S, Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, Ghaedi H, Noroozi R, Taghavi S, Ahmadifard A, Alehabib E, Andarva M, Shokraeian P, Atakhorrami M, Darvish H. Rahimi-Aliabadi S, et al. Among authors: tafakhori a. Eye (Lond). 2016 Nov;30(11):1424-1432. doi: 10.1038/eye.2016.137. Epub 2016 Jul 15. Eye (Lond). 2016. PMID: 27419834 Free PMC article.
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Firouzabadi SG, Kariminejad R, Vameghi R, Darvish H, Ghaedi H, Banihashemi S, Firouzkouhi Moghaddam M, Jamali P, Mofidi Tehrani HF, Dehghani H, Narooie-Nejad M, Jamshidi J, Tafakhori A, Sadabadi S, Najmabadi H, Behjati F. Firouzabadi SG, et al. Among authors: tafakhori a. Mol Neurobiol. 2017 Nov;54(9):7019-7027. doi: 10.1007/s12035-016-0202-y. Epub 2016 Oct 28. Mol Neurobiol. 2017. PMID: 27796743
140 results