Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report
Zardadi, Safoura, Razmara, Ehsan, Rasoulinezhad, Maryam, Babaei, Meisam, Ashrafi, Mohammad Reza, Pak, Neda, Garshasbi, Masoud, Tavasoli, Ali Reza
Published in BMC pediatrics (13.07.2022)
Published in BMC pediatrics (13.07.2022)
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Journal Article
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum
Karamzade, Arezou, Babaei, Meisam, Saberi, Mohammad, Golchin, Neda, Khalil Nejad Sani Banaei, Aysun, Eshaghkhani, Yeganeh, Golchehre, Zahra, Keramatipour, Mohammad
Published in Molecular biology reports (01.06.2021)
Published in Molecular biology reports (01.06.2021)
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Journal Article
Advancements in nanocarrier-mediated sunitinib delivery: Addressing obstacles and revealing its therapeutic promise in oncological treatment
Javid-Naderi, Mohammad Javad, Abbasi, Zohreh, Fathi-karkan, Sonia, Shahgolzari, Mehdi, Maleki-baladi, Reza, Shayegh, Fahimeh, Ebrahimzadeh, Ailin, Banimohamad-Shotorbani, Behnaz, Rahdar, Abbas, Babaei, Meisam, Pandey, Sadanand
Published in Journal of drug delivery science and technology (01.10.2024)
Published in Journal of drug delivery science and technology (01.10.2024)
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Journal Article
A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature
Nourmohammadi, Parisa, Asadollahi, Mostafa, Karamzade, Arezou, Eshaghkhani, Yeganeh, Babaei, Meisam, Golchehre, Zahra, Taheri, Seyedeh Roksana, Hasani, Sepideh, Taghizadeh, Mahdieh, Keramatipour, Mohammad
Published in Journal of genetics (07.08.2023)
Published in Journal of genetics (07.08.2023)
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Journal Article
Application of a Head-Up Tilt Table Test in Differentiation Between Epilepsy and Syncope in Children
Babaei, Meisam, Nasehi, Mohammad Mehdi, Khalilian, Mohammad Reza, Rasoulinezhad, Maryam, Tavallai, Hossein, Farahmandi, Fargol
Published in Journal of comprehensive pediatrics (10.09.2022)
Published in Journal of comprehensive pediatrics (10.09.2022)
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Journal Article
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Karimiani, Ehsan Ghayoor, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Tayfun, Gulsen Akay, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Monajemi, Gholamreza Bahrami, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Pinto Basto, Jorge, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Issa, Awatif Hameed, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza
Published in Brain (London, England : 1878) (04.04.2024)
Published in Brain (London, England : 1878) (04.04.2024)
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Journal Article
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S, Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G, Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G, Froukh, Tawfiq, Gill, Harinder K, Gleeson, Joseph G, Gogoll, Laura, Goh, Elaine S.-Y, Gowda, Vykuntaraju K, Haack, Tobias B, Hashem, Mais O, Hauser, Stefan, Hoffman, Trevor L, Hogue, Jacob S, Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G, Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R, Marco, Elysa J, McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A, Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M, Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut, Petree, Cassidy, Sadleir, Lynette G, Saunders, Carol, Schoels, Ludger, Shashi, Vandana, Spillmann, Rebecca C, Srinivasan, Varunvenkat M, Torbati, Paria N, Tos, Tulay, Zaki, Maha S, Zhou, Dihong, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M, Gan-Or, Ziv, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K, Maroofian, Reza, Rudko, David A, McPherson, Peter S
Published in Nature communications (22.08.2024)
Published in Nature communications (22.08.2024)
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Journal Article
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina
Published in Brain (London, England : 1878) (01.12.2023)
Published in Brain (London, England : 1878) (01.12.2023)
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Journal Article
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
Maroofian, Reza, Zamani, Mina, Kaiyrzhanov, Rauan, Liebmann, Lutz, Karimiani, Ehsan Ghayoor, Vona, Barbara, Huebner, Antje K., Calame, Daniel G., Misra, Vinod K., Sadeghian, Saeid, Azizimalamiri, Reza, Mohammadi, Mohammad Hasan, Zeighami, Jawaher, Heydaran, Sogand, Toosi, Mehran Beiraghi, Akhondian, Javad, Babaei, Meisam, Hashemi, Narges, Schnur, Rhonda E., Suri, Mohnish, Setzke, Jonas, Wagner, Matias, Brunet, Theresa, Grochowski, Christopher M., Emrick, Lisa, Chung, Wendy K., Hellmich, Ute A., Schmidts, Miriam, Lupski, James R., Galehdari, Hamid, Severino, Mariasavina, Houlden, Henry, Hübner, Christian A.
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
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Journal Article
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry
Published in American journal of human genetics (04.01.2024)
Published in American journal of human genetics (04.01.2024)
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Journal Article
Infantile Spasms, Clinical Manifestations of a Rare Brain Tumor: A Case Report and Literature Review
Hosseinzadeh, Rezvan, Tavallaii, Amin, Keykhosravi, Ehsan, Behnamfar, Morteza, Banaei, Mahnaz, Babaei, Meisam
Published in Iranian journal of child neurology (01.01.2022)
Published in Iranian journal of child neurology (01.01.2022)
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Journal Article
The Effect of Melatonin on Sleep Disorders in Children with Cerebral Palsy A Randomized Clinical Trial
Goldouzi, Hamid Reza, Akhondian, Javad, Beiraghi Toosi, Mehran, Mehrad Majd, Hassan, Shekari, Shima, Babaei, Meisam
Published in Iranian journal of child neurology (01.01.2024)
Published in Iranian journal of child neurology (01.01.2024)
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Journal Article
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y, Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H, AlMuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J, Arold, Stefan T, Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan
Published in Brain (London, England : 1878) (29.11.2021)
Published in Brain (London, England : 1878) (29.11.2021)
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Journal Article
Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies
Torbati, Paria Najarzadeh, Doosti, Mohammad, Sarraf, Payam, Boostani, Reza, Ahangari, Najmeh, Toosi, Mehran Beiraghi, Tafakhori, Abbas, Babaei, Meisam, Abedini, Soheila, Malek, Hadis, Maskani, Samaneh, Safi, Mojtaba, Karimiani, Ehsan Ghayoor
Published in Iranian journal of public health (01.05.2024)
Published in Iranian journal of public health (01.05.2024)
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Journal Article
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S., Baranano, Kristin, Ismail, Fatima Y., Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet, Maki, Yuta, Sachdev, Rani, Macintosh, Rebecca, Palmer, Elizabeth E., Mancini, Grazia M.S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias, Wortmann, Saskia B., Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh, Campeau, Philippe M., Murakami, Yoshiko
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Journal Article
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, Maroofian, Reza
Published in EBioMedicine (01.09.2024)
Published in EBioMedicine (01.09.2024)
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Journal Article
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Research in context
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian
Published in EBioMedicine (01.09.2024)
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Published in EBioMedicine (01.09.2024)
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