Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination von Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H., Kaya, N.

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The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients von Ahmadnia, N, Toosi, M Beiraghi, Karimiani, E Ghayour, Ashrafzadeh, F, Rad, M Faraji

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Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis von Eslamiyeh, Hossein, Ashrafzadeh, Farah, Akhondian, Javad, Beiraghi Toosi, Mehran

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Joubert syndrome in three children in a family: a case series von Akhondian, Javad, Ashrafzadeh, Farah, Beiraghi Toosi, Mehran, Moazen, Nasrin, Mohammadpoor, Toktam, Karami, Reza

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome von Salpietro, V, Maroofian, R, Zaki, MS, Wangen, J, Ciolfi, A, Barresi, S, Efthymiou, S, Lamaze, A, Aughey, GN, Al Mutairi, F, Rad, A, Rocca, C, Calì, E, Accogli, A, Zara, F, Striano, P, Mojarrad, M, Tariq, H, Giacopuzzi, E, Taylor, JC, Oprea, G, Skrahina, V, Rehman, KU, Abd Elmaksoud, M, Bassiony, M, El Said, HG, Abdel-Hamid, MS, Al Shalan, M, Seo, G, Kim, S, Lee, H, Khang, R, Issa, MY, Elbendary, HM, Rafat, K, Marinakis, NM, Traeger-Synodinos, J, Ververi, A, Sourmpi, M, Eslahi, A, Khadivi Zand, F, Beiraghi Toosi, M, Babaei, M, Jackson, A, Hannah, MG, Bugiardini, E, Bertini, E, Kriouile, Y, El-Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Lanari, M, Savasta, S, Macaya, A, Garavaglia, B, Borgione, E, Papacostas, S, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Zuccotti, GV, Marseglia, GL, Esposito, S, Shaikh, F, Cogo, P, Corsello, G, Mangano, S, Nardello, R, Mangano, D, Scardamaglia, A, Koutsis, G, Scuderi, C, Ferrara, P, Morello, G, Zollo, M, Berni-Canani, R, Terracciano, LM, Sisto, A, Di Fabio, S, Strano, F, Scorrano, G

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Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination von Chelban, V, Alsagob, M, Kloth, K, Chirita-Emandi, A, Vandrovcova, J, Maroofian, R, Davagnanam, I, Bakhtiari, S, AlSayed, MD, Rahbeeni, Z, AlZaidan, H, Malintan, NT, Johannsen, J, Efthymiou, S, Ghayoor Karimiani, E, Mankad, K, Al-Shahrani, SA, Beiraghi Toosi, M, AlShammari, M, Groppa, S, Haridy, NA, AlQuait, L, Qari, A, Huma, R, Salih, MA, Almass, R, Almutairi, FB, Hamad, MH, Alorainy, IA, Ramzan, K, Imtiaz, F, Puiu, M, Kruer, MC, Bierhals, T, Wood, NW, Colak, D, Houlden, H, Kaya, N

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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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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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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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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay von Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley, Valentina, James, Kiely N., Mancini, Grazia M.S., Schot, Rachel, Kalayci, Tugba, Altunoglu, Umut, Karimiani, Ehsan Ghayoor, Brick, Lauren, Kozenko, Mariya, Jamshidi, Yalda, Manzini, M. Chiara, Beiraghi Toosi, Mehran, Gleeson, Joseph G.

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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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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features von Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S, Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M, Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O'Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza, Silver, David L

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The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report von Sabermoghadam, Reihane, Maleki Shahmahmood, Toktam, Sarvghadi, Pooria, Beiraghi Toosi, Mehran

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease von Rice, GI, Kitabayashi, N, Barth, M, Briggs, TA, Burton, ACE, Carpanelli, ML, Cerisola, AM, Colson, C, Dale, RC, Danti, FR, Darin, N, De Azua, B, De Giorgis, V, De Goede, CGL, Desguerre, I, De Laet, C, Eslahi, A, Fahey, MC, Fallon, P, Fay, A, Fazzi, E, Gorman, MP, Gowrinathan, NR, Hully, M, Kurian, MA, Leboucq, N, Lin, JPSM, Lines, MA, Mar, SS, Maroofian, R, Marti-Sanchez, L, McCullagh, G, Mojarrad, M, Narayanan, V, Orcesi, S, Ortigoza-Escobar, JD, Perez-Duenas, B, Petit, F, Ramsey, KM, Rasmussen, M, Rivier, F, Rodriguez-Pombo, P, Roubertie, A, Stodberg, TI, Toosi, MB, Toutain, A, Uettwiller, F, Ulrick, N, Vanderver, A, Waldman, A, Livingston, JH, Crow, YJ

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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity von Lin, Sheng-Jia, Vona, Barbara, Lau, Tracy, Huang, Kevin, Zaki, Maha S, Aldeen, Huda Shujaa, Karimiani, Ehsan Ghayoor, Rocca, Clarissa, Noureldeen, Mahmoud M, Saad, Ahmed K, Petree, Cassidy, Bartolomaeus, Tobias, Abou Jamra, Rami, Zifarelli, Giovanni, Gotkhindikar, Aditi, Wentzensen, Ingrid M, Liao, Mingjuan, Cork, Emalyn Elise, Varshney, Pratishtha, Hashemi, Narges, Mohammadi, Mohammad Hasan, Rad, Aboulfazl, Neira, Juanita, Toosi, Mehran Beiraghi, Knopp, Cordula, Kurth, Ingo, Challman, Thomas D, Smith, Rebecca, Abdalla, Asmahan, Haaf, Thomas, Suri, Mohnish, Joshi, Manali, Chung, Wendy K, Moreno-De-Luca, Andres, Houlden, Henry, Maroofian, Reza, Varshney, Gaurav K

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Mutations in TAF8 cause a neurodegenerative disorder von Wong, Keit Men, Jepsen, Wayne M, Efthymiou, Stephanie, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Ghayoor Karimiani, Ehsan, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gärtner, Jutta, Maroofian, Reza, Huppke, Peter

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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia von Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L., Busk, Øyvind L., Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M., Huang, Kevin, Petree, Cassidy, Calame, Daniel G., von der Lippe, Charlotte, Alkuraya, Fowzan S., Wali, Sami, Lupski, James R., Varshney, Gaurav K., Posey, Jennifer E., Pehlivan, Davut

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders von Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Ghayoor Karimiani, Ehsan, 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, Sheraz, Khan, Al Shalan, Maha, Hickey, Scott E, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome von 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

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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic a... von Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.

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