The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations von Zamani, Gholamreza, Hosseini Bereshneh, Ali, Azizi Malamiri, Reza, Bagheri, Sayna, Moradi, Kamyar, Ashrafi, Mahmoud Reza, Tavasoli, Ali Reza, Mohammadi, Mahmoud, Badv, Reza Shervin, Ghahvechi Akbari, Masood, Heidari, Morteza

Volltext

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss von Azizi Malamiri, Reza, Mohammadi Asl, Javad, Ghanbari, Farideh

Volltext

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking von Wang, Haicui, Kaçar Bayram, Ayşe, Sprute, Rosanne, Ozdemir, Ozkan, Cooper, Emily, Pergande, Matthias, Efthymiou, Stephanie, Nedic, Ivana, Mazaheri, Neda, Stumpfe, Katharina, Azizi Malamiri, Reza, Shariati, Gholamreza, Zeighami, Jawaher, Bayram, Nurettin, Naghibzadeh, Seyed Kianoosh, Tajik, Mohamad, Yaşar, Mehmet, Sami Güven, Ahmet, Bibi, Farah, Sultan, Tipu, Salpietro, Vincenzo, Houlden, Henry, Per, Hüseyin, Galehdari, Hamid, Shalbafan, Bita, Jamshidi, Yalda, Cirak, Sebahattin

Volltext

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

Volltext

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

Volltext

The effects of classic ketogenic diet on serum lipid profile in children with refractory seizures von Zamani, Gholam Reza, Mohammadi, Mahmoud, Ashrafi, Mahmoud Reza, Karimi, Parviz, Mahmoudi, Maryam, Badv, Reza Shervin, Tavassoli, Ali Reza, Azizi Malamiri, Reza

Volltext

The safety and efficacy of umbilical cord blood mononuclear cells in individuals with spastic cerebral palsy: a randomized double-blind sham-controlled clinical trial von Zarrabi, Morteza, Akbari, Masood Ghahvechi, Amanat, Man, Majmaa, Anahita, Moaiedi, Ali Reza, Montazerlotfelahi, Hadi, Nouri, Masoumeh, Hamidieh, Amir Ali, Badv, Reza Shervin, Karimi, Hossein, Rabbani, Ali, Mohebbi, Ali, Rahimi-Dehgolan, Shahram, Rahimi, Rosa, Dehghan, Ensieh, Vosough, Massoud, Abroun, Saeed, Shamsabadi, Farhad Mahvelati, Tavasoli, Ali Reza, Alizadeh, Houman, Pak, Neda, Zamani, Gholam Reza, Mohammadi, Mahmoud, Javadzadeh, Mohsen, Ghofrani, Mohammad, Hassanpour, Seyed Hossein, Heidari, Morteza, Taghdiri, Mohammad Mehdi, Mohseni, Mohamad Javad, Noparast, Zahra, Masoomi, Safdar, Goudarzi, Mehrdad, Mohamadpour, Masood, Shodjaee, Razieh, Samimi, Solaleh, Mohammad, Monireh, Gholami, Mona, Vafaei, Nahid, Koochakzadeh, Leyli, Valizadeh, Amir, Malamiri, Reza Azizi, Ashrafi, Mahmoud Reza

Volltext

Non-invasive Electrical Source Imaging for Localizing Epileptiform Discharges in Children with Focal Epilepsy Based on Developing Country’s Limitations von Ahmadzadeh Irandoost, Soheil, Badv, Reza Shervin, Oghabian, Mohammad Ali, Yarali, Bahram, Azizi Malamiri, Reza, Hashemi, Hasan, Raminfard, Samira, Ebrahimi, Tayyebeh, Mohammadi, Mahmoud, Ashrafi, Mahmoud Reza

Volltext

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

Volltext

The quality of life in boys with Duchenne muscular dystrophy von Zamani, Gholamreza, Heidari, Morteza, Azizi Malamiri, Reza, Ashrafi, Mahmoud Reza, Mohammadi, Mahmoud, Shervin Badv, Reza, Hosseini, Seyed Ahmad, Salehi, Soodeh, Shahrokhi, Amin, Qorbani, Mostafa, Fathi, Mohammad Reza

Volltext

Efficacy and Safety of Cinnarizine in the Prophylaxis of Migraine in Children: A Double-Blind Placebo-Controlled Randomized Trial von Ashrafi, Mahmoud Reza, MD, Salehi, Soodeh, MD, Malamiri, Reza Azizi, MD, Heidari, Morteza, MD, Hosseini, Seyed Ahmad, MD, Samiei, Mahboubeh, MD, Tavasoli, Ali Reza, MD, Togha, Mansoureh, MD

Volltext

Efficacy and safety of intramuscular midazolam versus rectal diazepam in controlling status epilepticus in children von Momen, Ali Akbar, Azizi Malamiri, Reza, Nikkhah, Ali, Jafari, Maryam, Fayezi, Abbas, Riahi, Kourosh, Maraghi, Elham

Volltext

Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder von Golchin, Neda, Hajjari, Mohammadreza, Malamiri, Reza Azizi, Aminzadeh, Majid, Mohammadi-Asl, Javad

Volltext

The effect of a mixture of Nigella sativa and Thymus vulgaris extracts in children with refractory epilepsies: A randomized trial von Momen, Ali Akbar, Hemati, Ali Asghar, Houshmand, Gholamreza, Heydar Azadzadeh, Maryam, Azizi Malamiri, Reza

Volltext

Usability of the head upright tilt test for differentiating between syncopal and seizure-like events in children von Azizi Malamiri, Reza, Momen, Ali Akbar, Nikkhah, Ali, Khalilian, Mohammad Reza, Ghaderian, Mehdi, Najibi, Babak, Samiei, Mahboubeh

Volltext

Sleep Inducing for EEG Recording in Children: A Comparison between Oral Midazolam and Chloral Hydrate von Ashrafi, Mahmoud Reza, Azizi Malamiri, Reza, Zamani, Gholam Reza, Mohammadi, Mahmoud, Hosseini, Firozeh

Volltext

Serum zinc level in children with simple febrile convulsions von Taherya, Mehri, Ziaei Kajbaf, Tahereh, Janahmadi, Nasrin, Azizi Malamiri, Reza, Beladi Musavi, Maedeh

Volltext

Cinnarizine and sodium valproate as the preventive agents of pediatric migraine: A randomized double-blind placebo-controlled trial von Amanat, Man, Togha, Mansoureh, Agah, Elmira, Ramezani, Mahtab, Tavasoli, Ali Reza, Azizi Malamiri, Reza, Fashandaky, Fariba, Heidari, Morteza, Salehi, Mona, Eshaghi, Hamid, Ashrafi, Mahmoud Reza

Volltext

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

Volltext

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration von Muto, Valentina, Flex, Elisabetta, Kupchinsky, Zachary, Primiano, Guido, Galehdari, Hamid, Dehghani, Mohammadreza, Cecchetti, Serena, Carpentieri, Giovanna, Rizza, Teresa, Mazaheri, Neda, Sedaghat, Alireza, Vahidi Mehrjardi, Mohammad Yahya, Traversa, Alice, Di Nottia, Michela, Kousi, Maria M, Jamshidi, Yalda, Ciolfi, Andrea, Caputo, Viviana, Malamiri, Reza Azizi, Pantaleoni, Francesca, Martinelli, Simone, Jeffries, Aaron R, Zeighami, Jawaher, Sherafat, Amir, Di Giuda, Daniela, Shariati, Gholam Reza, Carrozzo, Rosalba, Katsanis, Nicholas, Maroofian, Reza, Servidei, Serenella, Tartaglia, Marco

Volltext