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Clinical Correlation of Ataxia Telangiectasia-Like Disorder 1 with A Variant of Uncertain Significance in the MRE11 Gene: A Case Report.
Published in:
Reviews in Clinical Medicine, 2024, v. 11, n. 3, p. 20
By:
- Shirvan, Bita Barazandeh;
- Akhondian, Javad;
- Layegh, Parvaneh;
- Hashemi, Narges;
- Karimiani, Ehsan Ghayoor;
- Rezaie, Razie;
- Torbati, Paria Najarzadeh;
- Toosi, Mehran Beiraghi
Publication type:
Article
Correlation between Diagnostic Magnetic Resonance Imaging Criteria and Cerebrospinal Fluid Pressure in Pediatric Idiopathic Intracranial Hypertension.
Published in:
Annals of Child Neurology, 2024, v. 32, n. 1, p. 1, doi. 10.26815/acn.2023.00241
By:
- Beizaei, Behnam;
- Toosi, Farrokh Seilanian;
- Shahmoradi, Yousef;
- Akhondian, Javad;
- Ashrafzadeh, Farah;
- Toosi, Mehran Beiraghi;
- Imannezhad, Shima;
- Kooshki, Alireza;
- Nejad, Ehsan Hassan;
- Payandeh, Asma;
- Tavakkolizadeh, Nahid;
- Ghalibaf, AmirAli Moodi;
- Hashemi, Narges
Publication type:
Article
Clinical Findings of Sydenham Chorea in Pediatric Patients: A Single-Center Retrospective Study.
Published in:
Annals of Child Neurology, 2023, v. 31, n. 3, p. 181, doi. 10.26815/acn.2023.00038
By:
- Shahri, Hassan Mottaghi Mohaddam;
- Nejad, Ehsan Hassan;
- Toosi, Mehran Beiraghi;
- Malek, Abdolreza;
- Payandeh, Asma
Publication type:
Article
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Published in:
Movement Disorders Clinical Practice, 2023, v. 10, n. 1, p. 101, doi. 10.1002/mdc3.13529
By:
- Magrinelli, Francesca;
- Bhatia, Kailash P.;
- Toosi, Mehran Beiraghi;
- Arab, Fatemeh;
- Karimiani, Ehsan Ghayoor;
- Sedighzadeh, Sahar;
- Ansari, Behnaz;
- Neshatdoust, Maedeh;
- Rocca, Clarissa;
- Houlden, Henry;
- Maroofian, Reza
Publication type:
Article
PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.
Published in:
2021
By:
- Esfehani, Reza Jafarzadeh;
- Eslahi, Atieh;
- Toosi, Mehran Beiraghi;
- Sadr-Nabavi, Ariane;
- Kerachian, Mohammad Amin;
- Mohajeri, Mahsa Sadat Asl;
- Farjami, Mahsa;
- Alizade, Farzaneh;
- Mojarrad, Majid
Publication type:
Case Study
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3273, doi. 10.1093/brain/awad039
By:
- Saffari, Afshin;
- Lau, Tracy;
- Tajsharghi, Homa;
- Karimiani, Ehsan Ghayoor;
- Kariminejad, Ariana;
- Efthymiou, Stephanie;
- Zifarelli, Giovanni;
- Sultan, Tipu;
- Toosi, Mehran Beiraghi;
- Sedighzadeh, Sahar;
- Siu, Victoria Mok;
- Ortigoza-Escobar, Juan Darío;
- AlShamsi, Aisha M;
- Ibrahim, Shahnaz;
- Al-Sannaa, Nouriya Abbas;
- Al-Hertani, Walla;
- Sandra, Whalen;
- Tarnopolsky, Mark;
- Alavi, Shahryar;
- Li, Chumei
Publication type:
Article
Mutations in TAF8 cause a neurodegenerative disorder.
Published in:
2022
By:
- Wong, Keit Men;
- Jepsen, Wayne M;
- Efthymiou, Stephanie;
- Salpietro, Vincenzo;
- Sanchez-Castillo, Meredith;
- Yip, Janice;
- Kriouile, Yamna;
- Diegmann, Susann;
- Dreha-Kulaczewski, Steffi;
- Altmüller, Janine;
- Thiele, Holger;
- Nürnberg, Peter;
- Toosi, Mehran Beiraghi;
- Akhondian, Javad;
- Karimiani, Ehsan Ghayoor;
- Hummel-Abmeier, Hannah;
- Huppke, Brenda;
- Houlden, Henry;
- Gärtner, Jutta;
- Maroofian, Reza
Publication type:
journal article
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Published in:
2021
By:
- Salsench, Eva Medico;
- Maroofian, Reza;
- Deng, Ruizhi;
- Lanko, Kristina;
- Nikoncuk, Anita;
- Pérez, Belén;
- Sánchez-Lijarcio, Obdulia;
- Ibáñez-Mico, Salvador;
- Wojcik, Antonina;
- Vargas, Marcelo;
- Al-Sannaa, Nouriya Abbas;
- Girgis, Marian Y;
- Silveira, Tainá Regina Damaceno;
- Bauer, Peter;
- Schroeder, Audrey;
- Fong, Chin-To;
- Begtrup, Amber;
- Babaei, Meisam;
- Toosi, Mehran Beiraghi;
- Ashrafzadeh, Farah
Publication type:
journal article
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Published in:
Public Health Genomics, 2017, v. 20, n. 2, p. 188, doi. 10.1159/000477560
By:
- Dehghani, MohammadReza;
- Mojarad, Majid;
- Karimiani, Ehsan Ghayoor;
- Mehrjardi, Mohammad Yahya Vahidi;
- Sahebalzamani, Afsaneh;
- Ashrafzadeh, Farah;
- Toosi, Mehran Beiraghi;
- Eslahi, Atiyeh;
- Ahangari, Najmeh;
- Yassini, Seyed Mojtaba;
- Hassanbeigi, Afsaneh;
- Rasti, Azam;
- Kalantar, Seyed Mehdi;
- Maroofian, Reza
Publication type:
Article
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Published in:
Public Health Genomics, 2017, v. 20, n. 3, p. 188, doi. 10.1159/000477560
By:
- Dehghani, MohammadReza;
- Mojarad, Majid;
- Ghayoor Karimiani, Ehsan;
- Vahidi Mehrjardi, Mohammad Yahya;
- Sahebalzamani, afsaneh;
- ashrafzadeh, Farah;
- Beiraghi Toosi, Mehran;
- Eslahi, atiyeh;
- ahangari, Najmeh;
- Yassini, Seyed Mojtaba;
- Hassanbeigi, afsaneh;
- Rasti, azam;
- Kalantar, Seyed Mehdi;
- Maroofian, Reza
Publication type:
Article
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2652, doi. 10.1002/ajmg.a.62852
By:
- Musante, Luciana;
- Faletra, Flavio;
- Meier, Kolja;
- Tomoum, Hoda;
- Najarzadeh Torbati, Paria;
- Blair, Edward;
- North, Sally;
- Gärtner, Jutta;
- Diegmann, Susann;
- Beiraghi Toosi, Mehran;
- Ashrafzadeh, Farah;
- Ghayoor Karimiani, Ehsan;
- Murphy, David;
- Murru, Flora Maria;
- Zanus, Caterina;
- Magnolato, Andrea;
- La Bianca, Martina;
- Feresin, Agnese;
- Girotto, Giorgia;
- Gasparini, Paolo
Publication type:
Article
The diagnostic value of MRI findings in pediatric idiopathic intracranial hypertension: a case-control study.
Published in:
Child's Nervous System, 2024, v. 40, n. 7, p. 2115, doi. 10.1007/s00381-024-06354-3
By:
- Seilanian Toosi, Farrokh;
- Hashemi, Narges;
- Emadzadeh, Maryam;
- Hassan Nejad, Ehsan;
- Payandeh, Asma;
- Tavakkolizadeh, Nahid;
- Akhondian, Javad;
- Ashrafzadeh, Farah;
- Beiraghi Toosi, Mehran;
- Shahmoradi, Yousef;
- Pourzal, MohammadReza;
- Kazemi, Seyed Amirhossein;
- Moodi Ghalibaf, AmirAli;
- Beizaei, Behnam
Publication type:
Article
Effect of a Supportive Educational Program on Self- Efficacy of Mothers with Epileptic Children.
Published in:
Journal of Evidence-based Care, 2016, v. 6, n. 2, p. 49
By:
- Gholami, Sepideh;
- Reyhani, Tayebeh;
- Toosi, Mehran Beiraghi;
- Vashani, Hamidreza Behnam
Publication type:
Article
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.739931
By:
- Fatehi, Farzad;
- Ashrafi, Mahmoud Reza;
- Babaee, Marzieh;
- Ansari, Behnaz;
- Beiraghi Toosi, Mehran;
- Boostani, Reza;
- Eshraghi, Peyman;
- Fakharian, Atefeh;
- Hadipour, Zahra;
- Haghi Ashtiani, Bahram;
- Moravej, Hossein;
- Nilipour, Yalda;
- Sarraf, Payam;
- Sayadpour Zanjani, Keyhan;
- Nafissi, Shahriar
Publication type:
Article
Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report.
Published in:
Reviews in Clinical Medicine, 2021, v. 8, n. 4, p. 166
By:
- Vakilzadeh, Mohammad Moein;
- Ahangari, Najmeh;
- Karimiani, Ehsan Ghayoor;
- Toosi, Mehran Beiraghi
Publication type:
Article
The effect of curcumin on epilepsy: an experimental review.
Published in:
Reviews in Clinical Medicine, 2017, v. 4, n. 3, p. 131
By:
- Erfani, Mina;
- Ashrafzadeh, Farah;
- Akhondian, Javad;
- Rahimi, Hamidreza;
- Beiraghi-Toosi, Mehran;
- Lashgari-Kalat, Hashem;
- Alaei, Ehsan;
- Zeynalzadeh, Monica
Publication type:
Article
Refractory seizures in children.
Published in:
Reviews in Clinical Medicine, 2014, v. 1, n. 1, p. 29
By:
- Mansoorinejad, Seyed Ebrahim;
- Ashrafzadeh, Farah;
- Akhondian, Javad;
- Toosi, Mehran Beiraghi
Publication type:
Article
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
Published in:
International Journal of Dermatology, 2018, v. 57, n. 10, p. 1242, doi. 10.1111/ijd.13948
By:
- Ashrafzadeh, Farah;
- Zabolinejad, Naghmeh;
- Ghayoor Karimiani, Ehsan;
- Beiraghi Toosi, Mehran;
- Doniadideh, Nahid;
- Torabi, Shatila;
- Razmyar, Mohammad;
- Sheikh Andalibi, Mohammad S.
Publication type:
Article
Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02794-3
By:
- Dehnavi, Ali Zare;
- Bemanalizadeh, Maryam;
- Kahani, Seyyed Mohammad;
- Ashrafi, Mahmoud Reza;
- Rohani, Mohammad;
- Toosi, Mehran Beiraghi;
- Heidari, Morteza;
- Hosseinpour, Sareh;
- Amini, Behnam;
- Zokaei, Shaghayegh;
- Rezaei, Zahra;
- Aryan, Hajar;
- Amanat, Man;
- Vahidnezhad, Hassan;
- Mohammadi, Pouria;
- Garshasbi, Masoud;
- Tavasoli, Ali Reza
Publication type:
Article
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02780-9
By:
- Dehnavi, Ali Zare;
- Bemanalizadeh, Maryam;
- Kahani, Seyyed Mohammad;
- Ashrafi, Mahmoud Reza;
- Rohani, Mohammad;
- Toosi, Mehran Beiraghi;
- Heidari, Morteza;
- Hosseinpour, Sareh;
- Amini, Behnam;
- Zokaei, Shaghayegh;
- Rezaei, Zahra;
- Aryan, Hajar;
- Amanat, Man;
- Vahidnezhad, Hassan;
- Mohammadi, Pouria;
- Garshasbi, Masoud;
- Tavasoli, Ali Reza
Publication type:
Article
Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report.
Published in:
Iranian Journal of Neonatology, 2014, v. 5, n. 3, p. 2
By:
- Farah, Ashrafzadeh;
- Nosrat, Ghaemi;
- Javad, Akhondian;
- Mehran, Beiraghi Toosi;
- Saghi, Elmi
Publication type:
Article
Curcumin as an anticonvulsant: a systematic review.
Published in:
Avicenna Journal of Phytomedicine, 2015, v. 5, p. 50
By:
- Akhondian, Javad;
- Ashrafzadeh, Farah;
- Toosi, Mehran Beiraghi;
- Hasanpoor, Kazem
Publication type:
Article
The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran.
Published in:
Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00551-0
By:
- Shariati, Mohammad;
- Davoudi, Alireza;
- Boostani, Reza;
- Ashrafzadeh, Farah;
- Beiraghi Toosi, Mehran;
- Todarbary, Nafiseh;
- Akhondian, Javad;
- Hashemi, Narges;
- Sadr-Nabavi, Ariane
Publication type:
Article
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Published in:
2022
By:
- Borgia, Paola;
- Baldassari, Simona;
- Pedemonte, Nicoletta;
- Alkhunaizi, Ebba;
- D'Onofrio, Gianluca;
- Tortora, Domenico;
- Calì, Elisa;
- Scudieri, Paolo;
- Balagura, Ganna;
- Musante, Ilaria;
- Diana, Maria Cristina;
- Pedemonte, Marina;
- Vari, Maria Stella;
- Iacomino, Michele;
- Riva, Antonella;
- Chimenz, Roberto;
- Mangano, Giuseppe D.;
- Mohammadi, Mohammad Hasan;
- Toosi, Mehran Beiraghi;
- Ashrafzadeh, Farah
Publication type:
journal article
Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes.
Published in:
Journal of Cellular & Molecular Medicine, 2023, v. 27, n. 4, p. 496, doi. 10.1111/jcmm.17662
By:
- Ajami, Naser;
- Kerachian, Mohammad Amin;
- Toosi, Mehran Beiraghi;
- Ashrafzadeh, Farah;
- Hosseini, Susan;
- Robinson, Peter N.;
- Abbaszadegan, Mohammad Reza
Publication type:
Article
Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation.
Published in:
2021
By:
- Vafaee‐Shahi, Mohammad;
- Ghasemi, Saeide;
- Beiraghi Toosi, Mehran;
- Ashrafi, Mahmoud Reza;
- Badv, Reza Shervin;
- Tavasoli, Ali Reza;
- Tahernia, Leila
Publication type:
Case Study
The Effect of Melatonin on Sleep Disorders in Children with Cerebral Palsy A Randomized Clinical Trial.
Published in:
Iranian Journal of Child Neurology, 2024, v. 18, n. 1, p. 51, doi. 10.22037/ijcn.v18i1.41949
By:
- GOLDOUZI, Hamid Reza;
- AKHONDIAN, Javad;
- BEIRAGHI TOOSI, Mehran;
- MEHRAD MAJD, Hassan;
- SHEKARI, Shima;
- Babaei, Meisam
Publication type:
Article
Comparison of new Biomarkers in the Diagnosis of Perinatal Asphyxia.
Published in:
Iranian Journal of Child Neurology, 2023, v. 17, n. 2, p. 99, doi. 10.22037/ijcn.v17i2.38561
By:
- BOSKABADI, Hassan;
- ZAKERIHAMIDI, Maryam;
- GHAYOUR MOBARHAN, Majid;
- BAGHERI, Fatemeh;
- MORADI, Ali;
- BEIRAGHI TOOSI, Mehran
Publication type:
Article
Comparison of new Biomarkers in the Diagnosis of Perinatal Asphyxia.
Published in:
Iranian Journal of Child Neurology, 2023, v. 17, n. 1, p. 99, doi. 10.22037/ijcn.v17i2.38561
By:
- BOSKABADI, Hassan;
- ZAKERIHAMIDI, Maryam;
- MOBARHAN, Majid GHAYOUR;
- BAGHERI, Fatemeh;
- MORADI, Ali;
- TOOSI, Mehran BEIRAGHI
Publication type:
Article
Effect of Curcumin on Pediatric Intractable Epilepsy.
Published in:
Iranian Journal of Child Neurology, 2022, v. 16, n. 3, p. 35, doi. 10.22037/ijcn.v15i4.28648
By:
- ERFANI, Mina;
- ASHRAFZADEH, Farah;
- RAHIMI, Hamid Reza;
- EBRAHIMI, Seyed Ali;
- KALALI, Keivan;
- BEIRAGHI TOOSI, Mehran;
- FARAJI RAD, Elnaz
Publication type:
Article
A case report of Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) as an atypical presentation of PRES in children.
Published in:
Iranian Journal of Child Neurology, 2022, v. 16, n. 2, p. 149, doi. 10.22037/ijcn.v16i1.32170
By:
- AKHONDIAN, Javad;
- ASHRAFZADEH, Farah;
- SEILANIAN TOOSI, Farrokh;
- BEHNAM, Mahdi;
- BEIRAGHI TOOSI, Mehran;
- IMANNEZHAD, Shima;
- AKHOUNDIAN, Mohammad Reza;
- HASHEMI, Narges
Publication type:
Article
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Published in:
Iranian Journal of Child Neurology, 2021, v. 15, n. 2, p. 17, doi. 10.22037/ijcn.v15i2.26401
By:
- AHMADNIA, Negin;
- BEIRAGHI TOOSI, Mehran;
- GHAYOUR KARIMIANI, Ehsan;
- ASHRAFZADEH, Farah;
- FARAJIRAD, Mohammad
Publication type:
Article
Psychological Signs as the Only Presentation of Wilson's Disease in an 11-Year-Old Boy.
Published in:
Iranian Journal of Child Neurology, 2018, v. 12, n. 2, p. 113
By:
- BEIRAGHI TOOSI, Mehran;
- AKHONDIAN, Javad;
- ASHRAF ZADEH, Farah;
- DONYADIDEH, Nahid;
- JAVID, Asma
Publication type:
Article
Angelman Syndrome: A Case Report.
Published in:
2016
By:
- Ashrafzadeh, Farah;
- Sadrnabavi, Arianeh;
- Akhondian, Javad;
- Beiraghi Toosi, Mehran;
- Mohammadi, Mohammadhassan;
- Hassanpour, Kazem
Publication type:
Case Study
Epstein-Barr Virus Encephalitis: A Case Report.
Published in:
2015
By:
- HASHEMIAN, Somayh;
- ASHRAFZADEH, Farah;
- AKHONDIAN, Javad;
- BEIRAGHI TOOSI, Mehran
Publication type:
Case Study
Griscelli Syndrome: A Case Report.
Published in:
2014
By:
- MANSOURI NEJAD, Seyed Ebrahim;
- TAYYEBI MEIBODI, Naser;
- ASHRAFZADEH, Farah;
- BEIRAGHI TOOSI, Mehran;
- ESLAMIEH, Hossein;
- AKHONDIAN, Javad;
- YAZDAN PANAH, Mohammad Javad
Publication type:
Case Study
A Rare presentation of neurobrucellosis in a child with Recurrent transient ischemic attacks and pseudotumor cerebri (A case report and review of literature)
Published in:
2014
By:
- Akhondian, Javad;
- Ashrafzadeh, Farah;
- Beiraghi Toosi, Mehran;
- Hashemi, Nargess
Publication type:
Journal Article
A Rare presentation of neurobrucellosis in a child with Recurrent transient ischemic attacks and pseudotumor cerebri (A case report and review of literature).
Published in:
Iranian Journal of Child Neurology, 2014, v. 8, n. 2, p. 65
By:
- AKHONDIAN, Javad;
- ASHRAFZADEH, Farah;
- BEIRAGHI TOOSI, Mehran;
- HASHEMI, Nargess
Publication type:
Article
Joubert Syndrome in Three Children in A Family: A Case Series.
Published in:
2013
By:
- Akhondian, Javad;
- Ashrafzadeh, Farah;
- Beiraghi Toosi, Mehran;
- Moazen, Nasrin;
- Mohammadpoor, Toktam;
- Karami, Reza
Publication type:
Journal Article
Joubert Syndrome in Three Children in A Family: A Case Series.
Published in:
Iranian Journal of Child Neurology, 2013, v. 7, n. 1, p. 41
By:
- AKHONDIAN, Javad;
- ASHRAFZADEH, Farah;
- BEIRAGHI TOOSI, Mehran;
- MOAZEN, Nasrin;
- MOHAMMADPOOR, Toktam;
- KARAMI, Reza
Publication type:
Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Published in:
Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad222
By:
- Accogli, Andrea;
- Zaki, Maha S.;
- Al-Owain, Mohammed;
- Otaif, Mansour Y.;
- Jackson, Adam;
- Argilli, Emanuela;
- Chandler, Kate E.;
- De Goede, Christian G. E. L.;
- Cora, Tülün;
- Alvi, Javeria Raza;
- Eslahi, Atieh;
- Mohajeri, Mahsa Sadat Asl;
- Ashtiani, Setareh;
- Au, P. Y. Billie;
- Scocchia, Alicia;
- Alakurtti, Kirsi;
- Pagnamenta, Alistair T.;
- Toosi, Mehran Beiraghi;
- Karimiani, Ehsan Ghayoor;
- Mojarrad, Majid
Publication type:
Article

Found: 41