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Page 1
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: firouzabadi sg. 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.
Exceptional human core promoter nucleotide compositions.
Darvish H, Nabi MO, Firouzabadi SG, Karimlou M, Heidari A, Najmabadi H, Ohadi M. Darvish H, et al. Among authors: firouzabadi sg. Gene. 2011 Apr 15;475(2):79-86. doi: 10.1016/j.gene.2010.12.013. Epub 2011 Jan 26. Gene. 2011. PMID: 21277957
Novel evidence of the involvement of calreticulin in major psychiatric disorders.
Ohadi M, Mirabzadeh A, Esmaeilzadeh-Gharehdaghi E, Rezazadeh M, Hosseinkhanni S, Oladnabi M, Firouzabadi SG, Darvish H. Ohadi M, et al. Among authors: firouzabadi sg. Prog Neuropsychopharmacol Biol Psychiatry. 2012 Jun 1;37(2):276-81. doi: 10.1016/j.pnpbp.2012.02.007. Epub 2012 Feb 21. Prog Neuropsychopharmacol Biol Psychiatry. 2012. PMID: 22507216
Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients.
Darvish H, Movafagh A, Omrani MD, Firouzabadi SG, Azargashb E, Jamshidi J, Khaligh A, Haghnejad L, Naeini NS, Talebi A, Heidari-Rostami HR, Noorollahi-Moghaddam H, Karkheiran S, Shahidi GA, Paknejad SM, Ashrafian H, Abdi S, Kayyal M, Akbari M, Pedram N, Emamalizadeh B. Darvish H, et al. Among authors: firouzabadi sg. Neurosci Lett. 2013 Sep 13;551:75-8. doi: 10.1016/j.neulet.2013.07.013. Epub 2013 Jul 21. Neurosci Lett. 2013. PMID: 23880019
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. Mol Neurobiol. 2017 Nov;54(9):7019-7027. doi: 10.1007/s12035-016-0202-y. Epub 2016 Oct 28. Mol Neurobiol. 2017. PMID: 27796743
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, Jamshidi J, Emamalizadeh B, Shahidi GA, Ahmadi M, Habibi SAH, Ahmadifard A, Fazeli A, Motallebi M, Petramfar P, Askarpour S, Askarpour S, Shahmohammadibeni HA, Shahmohammadibeni N, Eftekhari H, Shafiei Zarneh AE, Mohammadihosseinabad S, Khorrami M, Najmi S, Chitsaz A, Shokraeian P, Ehsanbakhsh H, Rezaeidian J, Ebrahimi Rad R, Madadi F, Andarva M, Alehabib E, Atakhorrami M, Mortazavi SE, Azimzadeh Z, Bayat M, Besharati AM, Harati-Ghavi MA, Omidvari S, Dehghani-Tafti Z, Mohammadi F, Mohammad Hossein Pour B, Noorollahi Moghaddam H, Esmaili Shandiz E, Habibi A, Taherian-Esfahani Z, Darvish H, Paisán-Ruiz C. Taghavi S, et al. Among authors: firouzabadi sg. Mol Neurobiol. 2018 Apr;55(4):3477-3489. doi: 10.1007/s12035-017-0535-1. Epub 2017 May 13. Mol Neurobiol. 2018. PMID: 28502045 Free PMC article.
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Darvish H, Azcona LJ, Taghavi S, Firouzabadi SG, Tafakhori A, Alehabib E, Mohajerani F, Zardadi S, Paisán-Ruiz C. Darvish H, et al. Among authors: firouzabadi sg. Ann Neurol. 2021 Aug;90(2):319-323. doi: 10.1002/ana.26148. Epub 2021 Jul 12. Ann Neurol. 2021. PMID: 34180078
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Among authors: firouzabadi sg. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.
19 results