Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation von Entezam, Mona, Razipour, Masoumeh, Talebi, Saeed, Beiraghi Toosi, Mehran, Keramatipour, Mohammad

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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition von Ghosh, Shereen G., Lee, Sangmoon, Fabunan, Rudy, Chai, Guoliang, Zaki, Maha S., Abdel-Salam, Ghada, Sultan, Tipu, Ben-Omran, Tawfeg, Alvi, Javeria Raza, McEvoy-Venneri, Jennifer, Stanley, Valentina, Patel, Aakash, Ross, Danica, Ding, Jeffrey, Jain, Mohit, Pan, Daqiang, Lübbert, Philipp, Kammerer, Bernd, Wiedemann, Nils, Verhoeven-Duif, Nanda M., Jans, Judith J., Murphy, David, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Ibrahim, Khalid, Waters, Elizabeth R., Maroofian, Reza, Gleeson, Joseph G.

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Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus von Fatehi, Farzad, Ashrafi, Mahmoud Reza, Babaee, Marzieh, Ansari, Behnaz, Toosi, Mehran Beiraghi, Boostani, Reza, Eshraghi, Peyman, Fakharian, Atefeh, Hadipour, Zahra, Ashtiani, Bahram Haghi, Moravej, Hossein, Nilipour, Yalda, Sarraf, Payam, Zanjani, Keyhan Sayadpour, Nafissi, Shahriar

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Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review von Magrinelli, Francesca, Bhatia, Kailash P., Beiraghi Toosi, Mehran, Arab, Fatemeh, Karimiani, Ehsan Ghayoor, Sedighzadeh, Sahar, Ansari, Behnaz, Neshatdoust, Maedeh, Rocca, Clarissa, Houlden, Henry, Maroofian, Reza

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The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation von Ashrafzadeh, Farah, Zabolinejad, Naghmeh, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Doniadideh, Nahid, Torabi, Shatila, Razmyar, Mohammad, Sheikh Andalibi, Mohammad S.

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PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran von Esfehani, Reza Jafarzadeh, Eslahi, Atieh, Toosi, Mehran Beiraghi, Sadr-Nabavi, Ariane, Kerachian, Mohammad Amin, Mohajeri, Mahsa Sadat Asl, Farjami, Mahsa, Alizade, Farzaneh, Mojarrad, Majid

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Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation von Vafaee‐Shahi, Mohammad, Ghasemi, Saeide, Beiraghi Toosi, Mehran, Ashrafi, Mahmoud Reza, Badv, Reza Shervin, Tavasoli, Ali Reza, Tahernia, Leila

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Therapeutical impacts of transcranial direct current stimulation on drug-resistant epilepsy in pediatric patients: A double-blind parallel-group randomized clinical trial von Ashrafzadeh, Farah, Akhondian, Javad, Hashemi, Narges, esmaeilzadeh, Mahla, Ghanaee, Ali, Yavarzadeh, Hanieh, Imannezhad, Shima, Saeedi Zand, Nazanin, Mirzadeh, Hanieh Sadat, Beiraghi Toosi, Mehran

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Efficacy and tolerability of hydroalcoholic extract of Paeonia officinalis in children with intractable epilepsy: An open-label pilot study von Zangooei pourfard, Mohammad, Mirmoosavi, Seyed Jamal, Beiraghi Toosi, Mehran, Rakhshandeh, Hasan, Rashidi, Roghayeh, Mohammad-Zadeh, Mohammad, Gholampour, Ali, Noras, Mohammadreza

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Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes von Ajami, Naser, Kerachian, Mohammad Amin, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Hosseini, Susan, Robinson, Peter N., Abbaszadegan, Mohammad Reza

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The diagnostic value of MRI findings in pediatric idiopathic intracranial hypertension: a case-control study von 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

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals von Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi

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The Impact of Blended Mindfulness Intervention (BMI) on University Students’ Sustained Attention, Working Memory, Academic Achievement, and Electroencephalogram (EEG) Asymmetry von Bajestani, Ghasem Sadeghi, Ghanizadeh, Afsaneh, Makhloughi, Fatemeh, Hosseinpour Kharrazi, Fatemeh, Hosseini, Akram, Toosi, Mehran Beiraghi

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Comparison of new biomarkers in the diagnosis of perinatal asphyxia von Boskabadi, Hassan, Zakerihamidi, Maryam, Ghayour Mobarhan, Majid, Bagheri, Fatemeh, Moradi, Ali, Beiraghi Toosi, Mehran

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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy von del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago

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A New Training Protocol Based on Bimanual Playing a Computer Game for Motion-Cognitive Rehabilitation in Children with Spastic Hemiparetic Cerebral Palsy von Hosseini, Parisa, Kobravi, Hamid Reza, Tahami, Ehsan, Zeinalzadeh, Afsaneh, Hashemi, Narges, Beiraghi Toosi, Mehran, Akhondian, Javad

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A form of muscular dystrophy associated with pathogenic variants in JAG2 von Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Beiraghi Toosi, Mehran, Ghayoor Karimiani, Ehsan, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.

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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition von 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, Costa, Paola, Carrozzi, Marco

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Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients von 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

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The Effect of Melatonin on Sleep Disorders in Children with Cerebral Palsy A Randomized Clinical Trial von Goldouzi, Hamid Reza, Akhondian, Javad, Beiraghi Toosi, Mehran, Mehrad Majd, Hassan, Shekari, Shima, Babaei, Meisam

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