General Principles of the Medical Management of Epilepsy in Children: A Literature Review

by Mahmoud Reza Ashrafi, Morteza Heidari
Published 2018-06-01

Early-Onset Friedreich's Ataxia With Oculomotor Apraxia

by Amene Saghazadeh, Sina Hafizi, Firouzeh Hosseini, Mahmoud Reza Ashrafi, Nima Rezaei
Published 2017-02-01

Efficacy of Early Intervention with Liskantin or Primidone to Decrease Developmental Delay in Children with Drowet and GEFS+ Syndrome

by Mohammad Reza Koushesh, Amin Shahrokhi, Roshanak Vameghi, Mahmoud Reza Ashrafi, Masoud Gharib
Published 2014-03-01

Autism in a Child with Common Variable Immunodeficiency

by Mohammad Salehi Sadaghiani, Asghar Aghamohammadi, Mahmoud-Reza Ashrafi, Firozeh Hosseini, Hassan Abolhassani, Nima Rezaei
Published 2013-09-01

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

by Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami
Published 2018-08-01

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

by Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani
Published 2021-02-01

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

by Mohammad Vafaee‐Shahi, Saeide Ghasemi, Mehran Beiraghi Toosi, Mahmoud Reza Ashrafi, Reza Shervin Badv, Ali Reza Tavasoli, Leila Tahernia
Published 2021-09-01

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

by Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi, Ali Reza Tavasoli
Published 2019-07-01

Association of the Single Nucleotide Polymorphisms of the Genes Encoding IL-2 and IFN-γ With Febrile Seizure

by Amin Shahrokhi, Ameneh Zare-Shahabadi, Mohammad Naeimi Poor, Firouzeh Sajedi, Samaneh Soltani, Samaneh Zoghi, Reza Shervin Badv, Mahmoud Reza Ashrafi, Nima Rezaei
Published 2017-08-01

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

by Hajar Aryan, Ehsan Razmara, Dariush Farhud, Marjan Zarif-Yeganeh, Shaghayegh Zokaei, Seyed Abbas Hassani, Mahmoud Reza Ashrafi, Masoud Garshasbi, Ali Reza Tavasoli
Published 2020-08-01

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

by Ali Zare Dehnavi, Erfan Heidari, Maryam Rasulinezhad, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad Mahdi Hosseini, Fatemeh Sadeghzadeh, Mohammad-Sadegh Fallah, Noushin Rostampour, Amir Bahraini, Masoud Garshasbi, Ali Reza Tavasoli
Published 2021-07-01

Vaccine-associated Paralytic Poliomyelitis in Immunodeficient Children, Iran, 1995–2008

by Shohreh Shahmahmoodi, Setareh Mamishi, Asghar Aghamohammadi, Nessa Aghazadeh, Hamideh Tabatabaie, Mohammad Mehdi Gooya, Seyed Mohsen Zahraei, Taha Mousavi, Maryam Yousefi, Kobra Farrokhi, Masoud Mohammadpour, Mahmoud Reza Ashrafi, Rakhshandeh Nategh, Nima Parvaneh
Published 2010-07-01

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

by Farzad Fatehi, Mahmoud Reza Ashrafi, Marzieh Babaee, Behnaz Ansari, Mehran Beiraghi Toosi, Reza Boostani, Peyman Eshraghi, Atefeh Fakharian, Zahra Hadipour, Bahram Haghi Ashtiani, Hossein Moravej, Yalda Nilipour, Payam Sarraf, Keyhan Sayadpour Zanjani, Shahriar Nafissi
Published 2021-09-01

Clinical and imaging outcomes after intrathecal injection of umbilical cord tissue mesenchymal stem cells in cerebral palsy: a randomized double-blind sham-controlled clinical tria...

by Man Amanat, Anahita Majmaa, Morteza Zarrabi, Masoumeh Nouri, Masood Ghahvechi Akbari, Ali Reza Moaiedi, Omid Ghaemi, Fatemeh Zamani, Sharif Najafi, Reza Shervin Badv, Massoud Vosough, Amir Ali Hamidieh, Mona Salehi, Hadi Montazerlotfelahi, Ali Reza Tavasoli, Morteza Heidari, Hossein Mohebi, Ali Fatemi, Amir Garakani, Mahmoud Reza Ashrafi
Published 2021-08-01

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycan...

by Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven
Published 2017-12-01

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

by Andreas Traschütz, Andreas Traschütz, Selina Reich, Selina Reich, Astrid D. Adarmes, Astrid D. Adarmes, Mathieu Anheim, Mathieu Anheim, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, Jonathan Baets, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Peter de Jonghe, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock, Martina Minnerop, Martina Minnerop, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Mathilde Renaud, Richard H. Roxburgh, Richard H. Roxburgh, Filippo M. Santorelli, Tommaso Schirinzi, Tommaso Schirinzi, Deborah A. Sival, Dagmar Timmann, Stefan Vielhaber, Stefan Vielhaber, Stefan Vielhaber, Michael Wallner, Bart P. van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Thomas Klockgether, Rebecca Schüle, Rebecca Schüle, Ludger Schöls, Ludger Schöls, PREPARE Consortium, Matthis Synofzik, Matthis Synofzik
Published 2021-06-01