Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Reza Azizimalamiri"'
Autor:
Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)
Abstract Background To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year
Externí odkaz:
https://doaj.org/article/73901f9896264335a878fdd5b263980b
Autor:
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affecte
Externí odkaz:
https://doaj.org/article/711cfaa4bbdd40c88cf90df5e876adc6
Autor:
Vahid Mansouri, Morteza Heidari, Maryam Bemanalizadeh, Reza Azizimalamiri, Shahriar Nafissi, Masood Ghahvechi Akbari, Mohammad Barzegar, Ali Reza Moayedi, Reza Shervin Badv, Mahmood Mohamadi, Ali Reza Tavasoli, Susan Amirsalari, Ali Khajeh, Soroor Inaloo, Farzad Fatehi, Sareh Hosseinpour, Meisam Babaei, Seyed Ahmad Hosseini, Seyyed Mohammad Mahdi Hosseiny, Afshin Fayyazi, Firoozeh Hosseini, Mehran Beiraghi Toosi, Nahid Khosroshahi, Homa Ghabeli, Habibeh Nejad Biglari, Simin Khayatzadeh Kakhki, Seyed Hossein Mirlohi, Elham Bidabadi, Bahram Mohammadi, Abdolmajid Omrani, Mostafa Sedighi, Mohammad Vafaee-Shahi, Maryam Rasulinezhad, Seyyed Mohamad Hoseini, Mojtaba Movahedinia, Zahra Rezaei, Parviz Karimi, Hossein Farshadmoghadam, Saeed Anvari, Omid Yaghini, Jafar Nasiri, Gholamreza Zamani, Mahmoud Reza Ashrafi
Publikováno v:
Journal of Neuromuscular Diseases. 10:211-225
Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had n
Autor:
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Publikováno v:
Clinical Genetics. 103:346-351
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 24(5)
A perfectly healthy preschool girl presented with acute repetitive focal aware motor seizures, while her brain MRI showed a lesion in the left posterior cortex. After a number of investigations, her cerebrospinal fluid PCR was positive for SARS-CoV-2
Publikováno v:
Journal of Experimental Pharmacology
Epilepsies are among the most common neurological problems. The disease burden in patients with epilepsy is significantly high, and epilepsy has a huge negative impact on patients’ quality of life with epilepsy and their families. Anti-seizure medi
Autor:
Azin Khalafinia, Ali Akbar Momen, Saeid Sadeghian, Reza Azizimalamiri, Shahram Nasiri, Gholamreza Jelodar
Publikováno v:
Journal of Pediatric Neurology. 19:384-388
In this article, we conducted a case–control study to determine the effects of migraine on quality of life (QOL) in children. Participants, aged between 6 and 18 years, were assigned to migraine (n = 70) and control (n = 70) groups. We used a trans
Autor:
Hamid Nilsaz-Dezfouli, Reza Azizimalamiri, Gholamreza Jelodar, Sahar Majidinezjad, Ali Akbar Momen, Shahram Nasiri, Kourosh Riahi
Publikováno v:
Pediatria Polska. 95:228-233
Autor:
Gholamreza Zamani, Mahmoud Reza Ashrafi, Bahram Yarali, Morteza Heidari, Reza Azizimalamiri, Reza Shervin Badv, Nahid Khosroshahi, Mahmoud Mohammadi, Ali Reza Tavasoli
Publikováno v:
Current Journal of Neurology
The article's abstract is not available.
Autor:
Hadi Montazerlotfelahi, Reza Shervin Badv, Reza Azizimalamiri, Mahmoud Reza Ashrafi, Mohammad Vafaee-Shahi, Ali Nikkhah, Morteza Heidari, Ali Reza Tavasoli
Publikováno v:
Iranian Journal of Pediatrics. 30
Context: We are going to face an epidemic of severe acute respiratory syndrome coronavirus (SARS-CoV-2) virus in our country. The main manifestation of this viral infection is respiratory and cardiovascular; however, up-to-date knowledge of its proba