Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy

por TAVASOLI, Ali Reza, ROSTAMI, Parastoo, ASHRAFI, Mahmoud Reza, KARIMZADEH, Parvaneh
Publicado 2017

Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis

por Moghadam, Soheila Hoseinzadeh, Tavasoli, Ali Reza, Modaresi, Mohammadreza, Ziaee, Vahid
Publicado 2019

The Efficacy of the Ketogenic Diet in Improving Seizures and EEG Findings in Patients with Refractory Infantile Spasms

por HANIFIHA, Melika, SHERVIN BADV, Reza, MAHMOUDI, Maryam, TAVASOLI, Ali Reza
Publicado 2022

Dosimetry of gamma chamber blood irradiator using PAGAT gel dosimeter and Monte Carlo simulations

por Mohammadyari, Parvin, Zehtabian, Mehdi, Sina, Sedigheh, Tavasoli, Ali Reza, Faghihi, Reza
Publicado 2014

Mitigating the risk of infection spread in manual order picking operations: A multi-objective approach

por Ardjmand, Ehsan, Singh, Manjeet, Shakeri, Heman, Tavasoli, Ali, Young II, William A.
Publicado 2021

Tumefactive Multiple Sclerosis Variants: Report of Two Cases of Schilder and Balo Diseases

por ASHRAFI, Mahmoud Reza, TAVASOLI, Ali Reza, ALIZADEH, Houman, ZARE NOGHABI, Javad, PARVANEH, Nima
Publicado 2017

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

por Tavasoli, Ali Reza, Parvaneh, Nima, Ashrafi, Mahmoud Reza, Rezaei, Zahra, Zschocke, Johannes, Rostami, Parastoo
Publicado 2018

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

por Sepahvand, Afrooz, Razmara, Ehsan, Bitarafan, Fatemeh, Galehdari, Mohammad, Tavasoli, Ali Reza, Almadani, Navid, Garshasbi, Masoud
Publicado 2020

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

por Khalesi, Raziyeh, Razmara, Ehsan, Asgaritarghi, Golareh, Tavasoli, Ali Reza, Riazalhosseini, Yasser, Auld, Daniel, Garshasbi, Masoud
Publicado 2021

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

por Mahdieh, Nejat, Soveizi, Mahdieh, Tavasoli, Ali Reza, Rabbani, Ali, Ashrafi, Mahmoud Reza, Kohlschütter, Alfried, Rabbani, Bahareh
Publicado 2021

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report

por Zardadi, Safoura, Razmara, Ehsan, Rasoulinezhad, Maryam, Babaei, Meisam, Ashrafi, Mohammad Reza, Pak, Neda, Garshasbi, Masoud, Tavasoli, Ali Reza
Publicado 2022

Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation

por Vafaee‐Shahi, Mohammad, Ghasemi, Saeide, Beiraghi Toosi, Mehran, Ashrafi, Mahmoud Reza, Badv, Reza Shervin, Tavasoli, Ali Reza, Tahernia, Leila
Publicado 2021

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

por Kameli, Reyhaneh, Amanat, Man, Rezaei, Zahra, Hosseionpour, Sareh, Nikbakht, Sedigheh, Alizadeh, Houman, Ashrafi, Mahmoud Reza, Omrani, Abdolmajid, Garshasbi, Masoud, Tavasoli, Ali Reza
Publicado 2019

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

por Aryan, Hajar, Razmara, Ehsan, Farhud, Dariush, Zarif-Yeganeh, Marjan, Zokaei, Shaghayegh, Hassani, Seyed Abbas, Ashrafi, Mahmoud Reza, Garshasbi, Masoud, Tavasoli, Ali Reza
Publicado 2020

How effective are strategies for non-communicable disease prevention and control in a high risk population in a developing country? Isfahan Healthy Heart Programme

por Baghaei, Abdolmehdi, Sarrafzadegan, Nizal, Rabiei, Katayoun, Gharipour, Mojgan, Tavasoli, Ali Akbar, Shirani, Shahin, Bahonar, Ahamad, Davarpanah, Amir Hossein, Ramezani, Mohammad Arash, Kelishadi, Roya
Publicado 2010

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

por Ashrafi, Mahmoud Reza, Haghighi, Roya, Badv, Reza Shervin, Ghabeli, Homa, Tavasoli, Ali Reza, Pourbakhtyaran, Elham, Rezaei, Zahra, Mahdieh, Nejat, Mohammadi, Pouria, Heidari, Morteza
Publicado 2022

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

por Ashrafi, Mahmoud Reza, Dehnavi, Ali Zare, Tavasoli, Ali Reza, Heidari, Morteza, Ghahvechi Akbari, Masoud, Ronagh, Ali Reza, Ghafouri, Mohammad, Mahdieh, Nejat, Mohammadi, Pouria, Rezaei, Zahra
Publicado 2023

Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy

por Zamani, Gholamreza, Hosseinpour, Sareh, Ashrafi, Mahmoud Reza, Mohammadi, Mahmoud, Badv, Reza Shervin, Tavasoli, Ali Reza, Akbari, Masood Ghahvechi, Bereshneh, Ali Hosseini, Malamiri, Reza Azizi, Heidari, Morteza
Publicado 2022

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

por Dehnavi, Ali Zare, Heidari, Erfan, Rasulinezhad, Maryam, Heidari, Morteza, Ashrafi, Mahmoud Reza, Hosseini, Mohammad Mahdi, Sadeghzadeh, Fatemeh, Fallah, Mohammad-Sadegh, Rostampour, Noushin, Bahraini, Amir, Garshasbi, Masoud, Tavasoli, Ali Reza
Publicado 2021

Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study

por Ashrafi, Mahmoud Reza, Pourbakhtyaran, Elham, Rohani, Mohammad, Shalbafan, Bita, Tavasoli, Ali Reza, Hosseinpour, Sareh, Rasulinezhad, Maryam, Rezaei, Zahra, Zare Dehnavi, Ali, Hosseiny, Seyyed Mohammad Mahdi, Haghighi, Roya, Ghabeli, Homa, Heidari, Morteza
Publicado 2022