Publications by authors named "Mehran Beiraghi Toosi"

17Publications

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

Authors:
Shereen G Ghosh Sangmoon Lee Rudy Fabunan Guoliang Chai Maha S Zaki Ghada Abdel-Salam Tipu Sultan Tawfeg Ben-Omran Javeria Raza Alvi Jennifer McEvoy-Venneri Valentina Stanley Aakash Patel Danica Ross Jeffrey Ding Mohit Jain Daqiang Pan Philipp Lübbert Bernd Kammerer Nils Wiedemann Nanda M Verhoeven-Duif Judith J Jans David Murphy Mehran Beiraghi Toosi Farah Ashrafzadeh Shima Imannezhad Ehsan Ghayoor Karimiani Khalid Ibrahim Elizabeth R Waters Reza Maroofian Joseph G Gleeson

Genet Med 2020 Nov 14. Epub 2020 Nov 14.

Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.

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November 2020

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.

Authors:
Marcello Scala Geok Lin Chua Cheen Fei Chin Hessa S Alsaif Artem Borovikov Saima Riazuddin Sheikh Riazuddin M Chiara Manzini Mariasavina Severino Alvin Kuk Hao Fan Yalda Jamshidi Mehran Beiraghi Toosi Mohammad Doosti Ehsan Ghayoor Karimiani Vincenzo Salpietro Elena Dadali Galina Baydakova Fedor Konovalov Ekaterina Lozier Emer O'Connor Yasser Sabr Abdullah Alfaifi Farah Ashrafzadeh Pasquale Striano Federico Zara Fowzan S Alkuraya Henry Houlden Reza Maroofian David L Silver

Eur J Hum Genet 2020 Nov 22;28(11):1509-1519. Epub 2020 Jun 22.

Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, 169857, Singapore.

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November 2020

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.

Authors:
Francisco Del Caño-Ochoa Bobby G Ng Malak Abedalthagafi Mohammed Almannai Ronald D Cohn Gregory Costain Orly Elpeleg Henry Houlden Ehsan Ghayoor Karimiani Pengfei Liu M Chiara Manzini Reza Maroofian Michael Muriello Ali Al-Otaibi Hema Patel Edvardson Shimon V Reid Sutton Mehran Beiraghi Toosi Lynne A Wolfe Jill A Rosenfeld Hudson H Freeze Santiago Ramón-Maiques

Genet Med 2020 Oct 28;22(10):1598-1605. Epub 2020 May 28.

Genome Dynamics and Function Program, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain.

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October 2020

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Authors:
Sangmoon Lee Dillon Y Chen Maha S Zaki Reza Maroofian Henry Houlden Nataliya Di Donato Dalia Abdin Heba Morsy Ghayda M Mirzaa William B Dobyns Jennifer McEvoy-Venneri Valentina Stanley Kiely N James Grazia M S Mancini Rachel Schot Tugba Kalayci Umut Altunoglu Ehsan Ghayoor Karimiani Lauren Brick Mariya Kozenko Yalda Jamshidi M Chiara Manzini Mehran Beiraghi Toosi Joseph G Gleeson

Am J Hum Genet 2019 10;105(4):844-853

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address:

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October 2019

Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.

Authors:
Mona Entezam Masoumeh Razipour Saeed Talebi Mehran Beiraghi Toosi Mohammad Keramatipour

Brain Dev 2019 Feb 5;41(2):182-186. Epub 2018 Sep 5.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Pishgam Biotech Company, Tehran, Iran. Electronic address:

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February 2019

Psychological Signs as the Only Presentation of Wilson's Disease in an 11-Year-Old Boy.

Authors:
Mehran Beiraghi Toosi Javad Akhondian Farah Ashraf Zadeh Nahid Donyadideh Asma Javid

Iran J Child Neurol 2018 ;12(2):113-116

Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.

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January 2018

The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.

Authors:
Farah Ashrafzadeh Naghmeh Zabolinejad Ehsan Ghayoor Karimiani Mehran Beiraghi Toosi Nahid Doniadideh Shatila Torabi Mohammad Razmyar Mohammad S Sheikh Andalibi

Int J Dermatol 2018 10 26;57(10):1242-1245. Epub 2018 Feb 26.

Student Research Committee, Cardiovascular Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

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October 2018

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

Authors:
MohammadReza Dehghani Majid Mojarad Ehsan Ghayoor Karimiani Mohammad Yahya Vahidi Mehrjardi Afsaneh Sahebalzamani Farah Ashrafzadeh Mehran Beiraghi Toosi Atiyeh Eslahi Najmeh Ahangari Seyed Mojtaba Yassini Afsaneh Hassanbeigi Azam Rasti Seyed Mehdi Kalantar Reza Maroofian

Public Health Genomics 2017 19;20(3):188-193. Epub 2017 Jul 19.

Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

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April 2018

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Authors:
Gillian I Rice Naoki Kitabayashi Magalie Barth Tracy A Briggs Annabel C E Burton Maria Luisa Carpanelli Alfredo M Cerisola Cindy Colson Russell C Dale Federica Rachele Danti Niklas Darin Begoña De Azua Valentina De Giorgis Christian G L De Goede Isabelle Desguerre Corinne De Laet Atieh Eslahi Michael C Fahey Penny Fallon Alex Fay Elisa Fazzi Mark P Gorman Nirmala Rani Gowrinathan Marie Hully Manju A Kurian Nicolas Leboucq Jean-Pierre S-M Lin Matthew A Lines Soe S Mar Reza Maroofian Laura Martí-Sanchez Gary McCullagh Majid Mojarrad Vinodh Narayanan Simona Orcesi Juan Dario Ortigoza-Escobar Belén Pérez-Dueñas Florence Petit Keri M Ramsey Magnhild Rasmussen François Rivier Pilar Rodríguez-Pombo Agathe Roubertie Tommy I Stödberg Mehran Beiraghi Toosi Annick Toutain Florence Uettwiller Nicole Ulrick Adeline Vanderver Amy Waldman John H Livingston Yanick J Crow

Neuropediatrics 2017 Jun 10;48(3):166-184. Epub 2017 Apr 10.

Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

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June 2017

Angelman Syndrome: A Case Report.

Authors:
Farah Ashrafzadeh Arianeh Sadrnabavi Javad Akhondian Mehran Beiraghi Toosi Mohammadhassan Mohammadi Kazem Hassanpour

Iran J Child Neurol 2016 ;10(2):86-9

Department of Pediatric, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.

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June 2016

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.

Authors:
Hossein Eslamiyeh Farah Ashrafzadeh Javad Akhondian Mehran Beiraghi Toosi

Iran J Child Neurol 2015 ;9(2):53-7

Department of Pediatric Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.

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July 2015

Epstein-barr virus encephalitis: a case report.

Authors:
Somayh Hashemian Farah Ashrafzadeh Javad Akhondian Mehran Beiraghi Toosi

Iran J Child Neurol 2015 ;9(1):107-10

1. Pediatric Neurology Department, Ghaem hospital, Mashhad University of Medical Sciences, Mashhad, Iran.

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March 2015

Griscelli syndrome: a case report.

Authors:
Seyed Ebrahim Mansouri Nejad Mohammad Javad Yazdan Panah Naser Tayyebi Meibodi Farah Ashraf Zadeh Javad Akhondian Mehran Beiraghi Toosi Hossein Eslamieh

Iran J Child Neurol 2014 ;8(4):72-5

Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.

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February 2015

Extensive cerebral Sinovenous Thrombosis in a 5 Year Old Girl, Following Mild Dehydration. (Case Report and Review of Literature).

Authors:
Farah Ashrafzadeh Javad Akhondian Mehran Beiraghi Toosi Nargess Hashemi

Iran Red Crescent Med J 2013 Dec 5;15(12):e6418. Epub 2013 Dec 5.

Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, IR Iran.

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December 2013

Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report.

Authors:
Farah Ashrafzadeh Nosrat Ghaemi Javad Akhondian Mehran Beiraghi Toosi Saghi Elmi

Iran J Child Neurol 2013 ;7(4):53-7

Department of Pediatric Neurology, Ghaem Medical Center, Mashhahd University of Medical Sciences, Mashhad, Iran.

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March 2014

Joubert syndrome in three children in a family: a case series.

Authors:
Javad Akhondian Farah Ashrafzadeh Mehran Beiraghi Toosi Nasrin Moazen Toktam Mohammadpoor Reza Karami

Iran J Child Neurol 2013 ;7(1):39-42

Student of Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

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March 2014

The effect of thymoquinone on intractable pediatric seizures (pilot study).

Authors:
Javad Akhondian Hamidreza Kianifar Mohammad Raoofziaee Amir Moayedpour Mehran Beiraghi Toosi Mohammad Khajedaluee

Epilepsy Res 2011 Jan 26;93(1):39-43. Epub 2010 Nov 26.

Mashhad University of Medical Sciences, Department of pediatric neurology, Ghaem Hospital, Mashhad, Khorasan, Iran.

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January 2011