Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder

Authors: Golchin, Neda, Hajjari, Mohammadreza, Malamiri, Reza Azizi, Aminzadeh, Majid, Mohammadi-asl, Javad

Source: Genetics and Molecular Biology. December 2017 40(4)

Subject Terms: Metachromatic leukodystrophy disorder, ARSA gene, mutation, arylsulfatase A

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Body mass index growth trajectories from birth through 24 months in Iranian infants of mothers with gestational diabetes mellitus

Authors: Nouhjah, Sedigheh, Shahbazian, Hajieh, Latifi, Seyed Mahmoud, Malamiri, Reza Azizi, Ghodrati, Niloofar

Source: In Diabetes & Metabolic Syndrome: Clinical Research & Reviews January-February 2019 13(1):408-412

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Authors: Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza

Source: American journal of human genetics. 105(5):1048-1056

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Association Study of Polymorphisms in Folate Metabolism and Mothers of Down Syndrome Offsprings in the Southwest of Iran.

Authors: Heydari, Atefeh, Aminzadeh, Majid, Momen, Ali Akbar, Birgani, Maryam Tahmasebi, Malamiri, Reza Azizi, Ghadiri, Ata A, Farajnezhad, Neda, Ghandil, Pegah

Source: Jundishapur Journal of Chronic Disease Care (JJCDC); Apr2024, Vol. 13 Issue 2, p1-6, 6p

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant

Authors: Helal, Mayada, Mazaheri, Neda, Shalbafan, Bita, Malamiri, Reza Azizi, Dilaver, Nafi, Buchert, Rebecca, Mohammadiasl, Javad, Golchin, Neda, Sedaghat, Alireza, Mehrjardi, Mohammad Yahya Vahidi, Haack, Tobias B., Riess, Olaf, Chung, Wendy K., Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza

Source: Neurological sciences. 39(11):1917-1925

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100126312750.0x000001&indx=1&recIds=ETOCvdc_100126312750.0x000001

The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System

Authors: Ashrafi, Mahmoud Reza, Rezaei, Zahra, Heidari, Morteza, Nikbakht, Sedigheh, Malamiri, Reza Azizi, Mohammadi, Mahmoud, Zamani, Gholam Reza, Badv, Reza Shervin, Rostami, Parastoo, Movahedinia, Mojtaba

Source: Journal of child neurology. 33(4):255-259

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN615095744&indx=1&recIds=ETOCRN615095744

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Authors: Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara

Source: American journal of human genetics. 100(3):537-545

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100041697132.0x000001&indx=1&recIds=ETOCvdc_100041697132.0x000001

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Authors: Kariminejad, Ariana, Rajaee, Ahmad, Ashrafi, Mahmoud Reza, Alizadeh, Houman, Tonekaboni, Seyed Hasan, Malamiri, Reza Azizi, Ghofrani, Mohamad, Karimzadeh, Parvaneh, Mohammadi, Mohsen Molla, Baghalshooshtari, Ali, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Postma, N., Abbink, Truus E.M., van der Knaap, Marjo S.

Source: In European Journal of Medical Genetics February 2015 58(2):71-74

Hemi-ESES associated with agenesis of the corpus callosum and normal cognition

Authors: Mohammadi, Mahmoud, kowkabi, Safoura, Asadi-Pooya, Ali A., Malamiri, Reza Azizi, Badv, Reza Shervin

Source: Epilepsy & behavior case reports. 11:96-98

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081623514.0x000001&indx=1&recIds=ETOCvdc_100081623514.0x000001

Efficacy and Safety of Cinnarizine in the Prophylaxis of Migraine in Children: A Double-Blind Placebo-Controlled Randomized Trial

Authors: Ashrafi, Mahmoud Reza, Salehi, Soodeh, Malamiri, Reza Azizi, Heidari, Morteza, Hosseini, Seyed Ahmad, Samiei, Mahboubeh, Tavasoli, Ali Reza, Togha, Mansoureh

Source: In Pediatric Neurology October 2014 51(4):503-508

Thalassemia major may decrease the frequency of febrile convulsions in children

Authors: Momen, Ali Akbar, Malamiri, Reza Azizi, Dehdezi, Bijan Keykhaei, Fathi, Mohsen

Source: In Pediatria Polska January-February 2014 89(1):17-20

Correlation between umbilical cord blood lipid profile and neonatal birth weight

Authors: Aletayeb, Seyyed Mohammad Hassan, Dehdashtian, Masoud, Aminzadeh, Majid, Moghaddam, Abdul-Rahman Emami, Mortazavi, Mazyar, Malamiri, Reza Azizi, Habibzadeh, Mahshad, Javaherizadeh, Hazhir

Source: In Pediatria Polska November-December 2013 88(6):521-525

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.

Authors: Ashrafi, Mahmoud Reza, Mohammadi, Pouria, Tavasoli, Ali Reza, Heidari, Morteza, Hosseinpour, Sareh, Rasulinejad, Maryam, Rohani, Mohammad, Akbari, Masoud Ghahvechi, Malamiri, Reza Azizi, Badv, Reza Shervin, Fathi, Davood, Dehnavi, Ali Zare, Savad, Shahram, Rabbani, Ali, Synofzik, Matthis, Mahdieh, Nejat, Rezaei, Zahra

Source: Cerebellum; Aug2023, Vol. 22 Issue 4, p640-650, 11p

Subject Terms: ATAXIA, CEREBELLAR ataxia, MAGNETIC resonance imaging, MOLECULAR spectra, BRAIN imaging, ARACHNOID cysts

Efficacy and safety of intravenous sodium valproate versus phenobarbital in controlling convulsive status epilepticus and acute prolonged convulsive seizures in children: A randomised trial

Authors: Malamiri, Reza Azizi, Ghaempanah, Mahdieh, Khosroshahi, Nahid, Nikkhah, Ali, Bavarian, Behrouz, Ashrafi, Mahmoud Reza

Source: In European Journal of Paediatric Neurology September 2012 16(5):536-541

Non-invasive Electrical Source Imaging for Localizing Epileptiform Discharges in Children with Focal Epilepsy Based on Developing Country's Limitations.

Authors: Irandoost, Soheil Ahmadzadeh, Badv, Reza Shervin, Oghabian, Mohammad Ali, Yarali, Bahram, Malamiri, Reza Azizi, Hashemi, Hasan, Raminfard, Samira, Ebrahimi, Tayyebeh, Mohammadi, Mahmoud, Ashrafi, Mahmoud Reza

Source: Iranian Journal of Pediatrics; Apr2023, Vol. 33 Issue 2, p1-10, 10p

Subject Terms: DIAGNOSIS of epilepsy, ELECTRODES, FINITE element method, ELECTROENCEPHALOGRAPHY, MAGNETIC resonance imaging, HEALTH outcome assessment, EPILEPTIFORM discharges, ELECTROCARDIOGRAPHY, FACTOR analysis, DESCRIPTIVE statistics, RESEARCH funding, DEVELOPING countries, ELECTROMYOGRAPHY, CHILDREN

Geographic Terms: IRAN

Efficacy and usability of buccal midazolam in controlling acute prolonged convulsive seizures in children

Authors: Ashrafi, Mahmoud Reza, Khosroshahi, Nahid, Karimi, Parviz, Malamiri, Reza Azizi, Bavarian, Behrouz, Zarch, Anoushiravan Vakili, Mirzaei, Mehdi, Kompani, Farshid

Source: In European Journal of Paediatric Neurology 2010 14(5):434-438

Evaluation of cardiac findings in pediatric patients with acute ischemic stroke: A brief report and review of current literature.

Authors: Khalilian, Mohammad Reza, Malamiri, Reza Azizi, Tahouri, Tahmineh, Ghazavi, Mohammad

Source: Caspian Journal of Pediatrics; Mar2023, Vol. 9, p1-5, 5p

Subject Terms: ISCHEMIC stroke, CEREBRAL circulation, NEUROLOGICAL disorders, ECHOCARDIOGRAPHY, MYXOMA, CHILD patients

Prognosis of Epilepsies and Epileptic Syndromes in Children: A Narrative Review.

Authors: Momen, Ali Akbar¹, Malamiri, Reza Azizi¹ azizi.ramin@gmail.com

Source: Reviews in Clinical Medicine. Spring2018, Vol. 5 Issue 2, p37-41. 5p.

Subject Terms: *CHILDHOOD epilepsy, *QUALITY of life

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

Authors: 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

Source: BMC Neurology; 5/2/2022, Vol. 22 Issue 1, p1-9, 9p

Subject Terms: DUCHENNE muscular dystrophy, GENETIC correlations, FACIOSCAPULOHUMERAL muscular dystrophy, DISEASE progression, AGE of onset, GENETIC disorders, CONTRACTURE (Pathology), GENES

Geographic Terms: IRAN

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.

Authors: Malamiri, Reza Azizi, Asl, Javad Mohammadi, Ghanbari, Farideh, Azizi Malamiri, Reza, Mohammadi Asl, Javad

Source: Iranian Biomedical Journal; Sep2021, Vol. 25 Issue 5, p368-373, 6p, 2 Diagrams