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mehran beiraghi toosi
mehran beiraghi toosi
Associate Professor, Pediatric Neurology,Faculty of Medicine, Mashhad University of Medical Sciences
Verified email at mums.ac.ir
Title
Cited by
Cited by
Year
The effect of thymoquinone on intractable pediatric seizures (pilot study)
J Akhondian, H Kianifar, M Raoofziaee, A Moayedpour, MB Toosi, ...
Epilepsy research 93 (1), 39-43, 2011
1372011
Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome
SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ...
The American Journal of Human Genetics 103 (3), 431-439, 2018
722018
Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease
GI Rice, N Kitabayashi, M Barth, TA Briggs, ACE Burton, ML Carpanelli, ...
Neuropediatrics 48 (03), 166-184, 2017
682017
Epstein-Barr virus encephalitis: a case report
S Hashemian, F Ashrafzadeh, J Akhondian, MB Toosi
Iranian journal of child neurology 9 (1), 107, 2015
272015
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
M Scala, GL Chua, CF Chin, HS Alsaif, A Borovikov, S Riazuddin, ...
European Journal of Human Genetics 28 (11), 1509-1519, 2020
232020
Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination
V Chelban, M Alsagob, K Kloth, A Chirita‐Emandi, J Vandrovcova, ...
European journal of neurology 27 (2), 334-342, 2020
222020
A form of muscular dystrophy associated with pathogenic variants in JAG2
S Coppens, AM Barnard, S Puusepp, S Pajusalu, K Õunap, ...
The American Journal of Human Genetics 108 (5), 840-856, 2021
212021
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
SG Ghosh, S Lee, R Fabunan, G Chai, MS Zaki, G Abdel-Salam, T Sultan, ...
Genetics in Medicine 23 (3), 524-533, 2021
202021
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
F del Caño-Ochoa, BG Ng, M Abedalthagafi, M Almannai, RD Cohn, ...
Genetics in Medicine 22 (10), 1598-1605, 2020
192020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
M Wagner, J Lévy, S Jung-Klawitter, S Bakhtiari, F Monteiro, R Maroofian, ...
Genetics in Medicine 22 (6), 1061-1068, 2020
192020
Bi-allelic loss of human APC2, encoding adenomatous polyposis coli protein 2, leads to lissencephaly, subcortical heterotopia, and global developmental delay
S Lee, DY Chen, MS Zaki, R Maroofian, H Houlden, N Di Donato, D Abdin, ...
The American Journal of Human Genetics 105 (4), 844-853, 2019
172019
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
K Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ...
Genetics in Medicine 25 (1), 90-102, 2023
162023
Recommendations for infantile-onset and late-onset Pompe disease: an Iranian consensus
F Fatehi, MR Ashrafi, M Babaee, B Ansari, M Beiraghi Toosi, R Boostani, ...
Frontiers in Neurology 12, 739931, 2021
162021
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
I Van Gucht, JAN Meester, JR Bento, M Bastiaansen, J Bastianen, ...
The American Journal of Human Genetics 108 (6), 1115-1125, 2021
152021
A rare presentation of neurobrucellosis in a child with recurrent transient ischemic attacks and pseudotumor cerebri (a case report and review of literature)
F ASHRAFZADEH, M BEIRAGHI TOOSI, N HASHEMI
Iranian Journal of Child Neurology 8 (2), 65-69, 2014
142014
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
M Iqbal, R Maroofian, B Çavdarlı, F Riccardi, M Field, S Banka, ...
Genetics in Medicine 23 (11), 2138-2149, 2021
132021
Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation
M Entezam, M Razipour, S Talebi, MB Toosi, M Keramatipour
Brain and Development 41 (2), 182-186, 2019
132019
Spinal muscular atrophy: A short review article
F Ashrafzadeh, A Sadr-Nabavi, N Asadian, J Akhondian, M Beiraghi Toosi
International Journal of Pediatrics 2 (3.1), 211-215, 2014
102014
Hypoparathyroidism as the first manifestation of Kearns-Sayre syndrome: a case report
F Ashrafzadeh, N Ghaemi, J Akhondian, MB Toosi, E Saghi
Iranian Journal of Child Neurology 7 (4), 53, 2013
102013
Joubert syndrome in three children in a family: a case series
J Akhondian, F Ashrafzadeh, MB Toosi, N Moazen, T Mohammadpoor, ...
Iranian Journal of Child Neurology 7 (1), 39, 2013
102013
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