|Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery|
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071, 2016
|Role of oxidative stress and insulin resistance in disease severity of non-alcoholic fatty liver disease|
E Köroğlu, B Canbakan, K Atay, İ Hatemi, M Tuncer, A Dobrucalı, ...
Turk J Gastroenterol 27 (4), 361-366, 2016
|Effects of miglustat on stabilization of neurological disorder in Niemann–Pick disease type C: Iranian pediatric case series|
P Karimzadeh, SH Tonekaboni, MR Ashrafi, Y Shafeghati, A Rezayi, ...
Journal of child neurology 28 (12), 1599-1606, 2013
|Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)|
VG Kalahroudi, B Kamalidehghan, AA Kani, O Aryani, M Tondar, ...
PloS one 9 (9), 2014
|Secondary headaches attributed to arterial hypertension|
F Assarzadegan, M Asadollahi, O Hesami, O Aryani, B Mansouri
Iranian journal of neurology 12 (3), 106, 2013
|Molecular analysis of the SMN and NAIP genes in Iranian spinal muscular atrophy patients|
O Omrani, M Bonyadi, M Barzgar
Pediatrics International 51 (2), 193-196, 2009
|Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia)|
MH Salehi, B Kamalidehghan, M Houshmand, O Aryani, M Sadeghizadeh, ...
Molecular biology reports 40 (11), 6495-6499, 2013
|Investigation of the mitochondrial ATPase 6/8 and tRNALys genes mutations in autism|
F Piryaei, M Houshmand, O Aryani, S Dadgar, ZS Soheili
Cell Journal (Yakhteh) 14 (2), 98, 2012
|Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients|
MH Salehi, B Kamalidehghan, M Houshmand, GY Meng, ...
PloS one 9 (4), 2014
|Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type|
T Van Damme, A Colige, D Syx, C Giunta, U Lindert, M Rohrbach, ...
Genetics in Medicine 18 (9), 882-891, 2016
|Alexander disease: report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran|
MR Ashrafi, A Tavasoli, O Aryani, H Alizadeh, M Houshmand
Iranian journal of pediatrics 23 (4), 481, 2013
|Three novel mutations in Iranian patients with Tay-Sachs disease|
S Jamali, N Eskandari, O Aryani, S Salehpour, T Zaman, ...
Iranian biomedical journal 18 (2), 114, 2014
|Novel mutations in Sandhoff disease: a molecular analysis among Iranian cohort of infantile patients|
H Aryan, O Aryani, K Banihashemi, T Zaman, M Houshmand
Iranian journal of public health 41 (3), 112, 2012
|Recurrence of primary hyperoxaluria after kidney transplantation|
T Malakoutian, M Asgari, M Houshmand, R Mohammadi, O Aryani, ...
IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD) 5 (6), 429-433, 2011
|Late‐onset pompe disease in Iran: A clinical and genetic report|
F Nazari, F Sinaei, Y Nilipour, F Fatehi, B Streubel, MR Ashrafi, O Aryani, ...
Muscle & nerve 55 (6), 835-840, 2017
|Four novel p. N385K, p. V36A, c. 1033–1034insT and c. 1417–1418delCT mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick …|
MD Manshadi, B Kamalidehghan, F Keshavarzi, O Aryani, S Dadgar, ...
International journal of molecular sciences 16 (4), 6668-6676, 2015
|Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries|
N Nouri, E Fazel-Najafabadi, M Behnam, N Nouri, O Aryani, M Ghasemi, ...
Gene 535 (2), 250-254, 2014
|Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber’s hereditary optic neuropathy (LHON)|
Z Rezvani, E Didari, A Arastehkani, V Ghodsinejad, O Aryani, ...
Molecular biology reports 40 (12), 6837-6841, 2013
|Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1|
H Ganji, N Nouri, M Salehi, O Aryani, M Houshmand, K Basiri, ...
Journal of child neurology 30 (5), 558-562, 2015
|Molecular and clinical investigation of Iranian patients with Friedreich ataxia|
MH Salehi, M Houshmand, O Aryani, B Kamalidehghan, E Khalili
Iranian biomedical journal 18 (1), 28, 2014