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Items: 15

1.
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
Brain. 2023 May; 146(5): 2003–2015. Published online 2022 Oct 31. doi: 10.1093/brain/awac391
PMCID:
PMC10411936
2.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417
3.
Shingo Koyama, Yuma Okabe, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Chifumi Iseki, Kazuyo Tanji, Kyoko Suzuki, Yasuyuki Ohta
BMC Neurol. 2022; 22: 193. Published online 2022 May 25. doi: 10.1186/s12883-022-02711-4
PMCID:
PMC9131546
4.
Mahdiyeh Moudi, Mohammad Yahya Vahidi Mehrjardi, Hossein Hozhabri, Zahra Metanat, Seyed Mehdi Kalantar, Mohsen Taheri, Nasrin Ghasemi, Mohammadreza Dehghani
J Clin Lab Anal. 2022 Feb; 36(2): e24241. Published online 2022 Jan 12. doi: 10.1002/jcla.24241
PMCID:
PMC8842163
5.
Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco
Ital J Pediatr. 2019; 45: 155. Published online 2019 Dec 3. doi: 10.1186/s13052-019-0752-5
PMCID:
PMC6892221
6.
Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Bockenhauer, Lukas Foggensteiner, Philip L. Beales
J Am Soc Nephrol. 2017 Mar; 28(3): 963–970. Published online 2016 Sep 22. doi: 10.1681/ASN.2015091029
PMCID:
PMC5328148
7.
Iltaf Ahmed, Rebecca Buchert, Mi Zhou, Xinfu Jiao, Kirti Mittal, Taimoor I. Sheikh, Ute Scheller, Nasim Vasli, Muhammad Arshad Rafiq, M. Qasim Brohi, Anna Mikhailov, Muhammad Ayaz, Attya Bhatti, Heinrich Sticht, Tanveer Nasr, Melissa T. Carter, Steffen Uebe, André Reis, Muhammad Ayub, Peter John, Megerditch Kiledjian, John B. Vincent, Rami Abou Jamra
Hum Mol Genet. 2015 Jun 1; 24(11): 3172–3180. Published online 2015 Feb 20. doi: 10.1093/hmg/ddv069
PMCID:
PMC4424955
8.
R Abou Jamra, Sigrun Wohlfart, Markus Zweier, Steffen Uebe, Lutz Priebe, Arif Ekici, Susanne Giesebrecht, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Markus M Nöthen, Johannes Schumacher, André Reis
Eur J Hum Genet. 2011 Nov; 19(11): 1161–1166. Published online 2011 Jun 1. doi: 10.1038/ejhg.2011.98
PMCID:
PMC3198153
9.
Rong Luo, Hye Min Yang, Zhaohui Jin, Dicky JJ Halley, Bernard S. Chang, Lesley MacPherson, Louise Brueton, Xianhua Piao
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2011 Jul; 45(1): 49–53. doi: 10.1016/j.pediatrneurol.2011.02.004
PMCID:
PMC3135102
10.
Heather M. Harville, Susanne Held, Anna Diaz-Font, Erica E. Davis, Bill H. Diplas, Richard A. Lewis, Zvi Borochowitz, Weibin Zhou, Moumita Chaki, Jim MacDonald, Hulya Kayserili, Philip L. Beales, Nicholas Katsanis, Edgar Otto, Friedhelm Hildebrandt
J Med Genet.
Published in final edited form as: J Med Genet. 2010 Apr; 47(4): 262–267. Published online 2009 Sep 24. doi: 10.1136/jmg.2009.071365
PMCID:
PMC3017466
11.
A K Nicholas, E A Swanson, J J Cox, G Karbani, S Malik, K Springell, D Hampshire, M Ahmed, J Bond, D Di Benedetto, M Fichera, C Romano, W B Dobyns, C G Woods
J Med Genet. 2009 Apr; 46(4): 249–253. Published online 2008 Nov 21. doi: 10.1136/jmg.2008.062380
PMCID:
PMC2658750
12.
13.
B. McNicholl, B. Egan-Mitchell, J. P. Murray, J. F. Doyle, J. D. Kennedy, L. Crome
Arch Dis Child. 1970 Jun; 45(241): 421–424. doi: 10.1136/adc.45.241.421
PMCID:
PMC1647602
14.
G. Vazza, M. Zortea, F. Boaretto, G. F. Micaglio, V. Sartori, M. L. Mostacciuolo
Am J Hum Genet. 2000 Aug; 67(2): 504–509. Published online 2000 Jun 30. doi: 10.1086/303017
PMCID:
PMC1287196
15.
Hong Hua Li, Wei-Hong Yu, Nora Rozengurt, Hui-Zhi Zhao, Karen M. Lyons, Stephan Anagnostaras, Michael S. Fanselow, Kunihiko Suzuki, Marie T. Vanier, Elizabeth F. Neufeld
Proc Natl Acad Sci U S A. 1999 Dec 7; 96(25): 14505–14510. doi: 10.1073/pnas.96.25.14505
PMCID:
PMC24466

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