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seyed hassan tonekaboni
seyed hassan tonekaboni
professor of pediatrics in shahid beheshti medical university ( SBMU)
Verified email at sbmu.ac.ir
Title
Cited by
Cited by
Year
Genetics of intellectual disability in consanguineous families
H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig, M Hosseini, C Oppitz, ...
Molecular psychiatry 24 (7), 1027-1039, 2019
1922019
Effect of inbreeding on intellectual disability revisited by trio sequencing
K Kahrizi, H Hu, M Hosseini, VM Kalscheuer, Z Fattahi, M Beheshtian, ...
Clinical genetics 95 (1), 151-159, 2019
672019
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
neurogenetics 7 (3), 149-156, 2006
622006
Efficacy of the Atkins diet as therapy for intractable epilepsy in children
SH Tonekaboni, P Mostaghimi, P Mirmiran, A Abbaskhanian, FA Gorji, ...
Archives of Iranian medicine 13 (6), 492-497, 2010
582010
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): diagnosis and neuroimaging findings (an Iranian pediatric case series)
P Karimzadeh, N Jafari, HN Biglari, SJ Dari, FA Abadi, MR Alaee, ...
Iranian journal of child neurology 8 (3), 55, 2014
532014
Knowledge, attitudes, and practices among mothers of children with epilepsy: a study in a teaching hospital
AA Kolahi, M Abbasi-Kangevari, P Bakhshaei, F Mahvelati-Shamsabadi, ...
Epilepsy & Behavior 69, 147-152, 2017
442017
Neurocognitive effects of phenobarbital discontinuation in epileptic children
SH Tonekaboni, N Beyraghi, HS Tahbaz, SA Bahreynian, ...
Epilepsy & Behavior 8 (1), 145-148, 2006
442006
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group
MENA Pompe Working Group, F Al Jasmi, M Al Jumah, F Alqarni, ...
BMC neurology 15, 1-17, 2015
412015
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation
MA Dezfouli, A Alavi, M Rohani, M Rezvani, T Nekuie, B Klotzle, ...
Movement Disorders 28 (2), 228-231, 2013
392013
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Y Nilipour, S Nafissi, AE Tjust, G Ravenscroft, H Hossein Nejad Nedai, ...
European journal of neurology 25 (6), 841-847, 2018
382018
Bone mineral density in ambulatory children with epilepsy
O Yaghini, SH Tonekaboni, SM Amir Shahkarami, F Ahmad Abadi, ...
The Indian Journal of Pediatrics 82, 225-229, 2015
352015
Neurodegeneration with brain iron accumulation: an overview
SH Tonekaboni, M Mollamohammadi
Iranian journal of child neurology 8 (4), 1, 2014
352014
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping
JS Amos, L Huang, J Thevenon, A Kariminedjad, CL Beaulieu, ...
Clinical genetics 91 (1), 92-99, 2017
342017
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
302013
Evaluating the validity and reliability of PDQ-II and comparison with DDST-II for two step developmental screening
S Shahshahani, F Sajedi, N Azari, R Vameghi, A Kazemnejad, ...
Iranian journal of pediatrics 21 (3), 343, 2011
282011
The ketogenic and Atkins diets effect on intractable epilepsy: a comparison
A Ghazavi, SH Tonekaboni, P Karimzadeh, AA Nikibakhsh, A Khajeh, ...
Iranian journal of child neurology 8 (3), 12, 2014
262014
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
C Bonnard, M Shboul, SH Tonekaboni, AYJ Ng, S Tohari, K Ghosh, A Lai, ...
European journal of medical genetics 61 (10), 585-595, 2018
242018
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
A Kariminejad, L Schöls, R Schüle, SH Tonekaboni, A Abolhassani, ...
European Journal of Paediatric Neurology 20 (5), 782-787, 2016
232016
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
A Kariminejad, A Rajaee, MR Ashrafi, H Alizadeh, SH Tonekaboni, ...
European journal of medical genetics 58 (2), 71-74, 2015
232015
A comparison of buccal midazolam and intravenous diazepam for the acute treatment of seizures in children
SH Tonekaboni, FM Shamsabadi, SS Anvari, A Mazrooei, M Ghofrani
Iranian Journal of Pediatrics 22 (3), 303, 2012
222012
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