日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 缺陷:一种伴有癫痫的神经发育障碍的机制基础和表型谱

Dore Rhys, Chang Chu-Ting, Declève Amber, Brunori Gloria, Ludlam W Grant, Huang Alden, Movahedinia Mojtaba, Damseh Nadirah S, Anwar Ijaz, Vahidi Mehrjardi Mohammad Yahya, Ny Annelii, Khorrami Mehdi, Kheirollahi Majid, Frederiksen Helen, Eghbal Fatemeh, Mirjalili Mohammad Reza, Dehghani Mohammadreza, Karimiani Ehsan Ghayoor, Oreshkov Sergey, Alves Cesar, Striano Pasquale, Suri Mohnish, Martinez-Agosto Julian, Ansar Muhammad, Zahid Muhammad, Akram Samra, Ansar Muhammad, Nelson Stanley F, Antonarakis Stylianos E, Houlden Henry, Copmans Daniëlle, Martemyanov Kirill A, Maroofian Reza

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

NDUFA13双等位基因变异会导致神经发育表型,并伴有逐渐加重的神经功能障碍。

Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Vahidi Mehrjardi, Mohammad Yahya; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; McFarland, Robert; Abdel-Hamid, Mohamed S; Elhossini, Rasha M; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W; Maroofian, Reza

Type 1 early infantile epileptic encephalopathy: A case report and literature review

1型早期婴儿癫痫性脑病:病例报告及文献综述

Zaker, Erfan; Nouri, Negar; Movahedinia, Mojtaba; Dadbinpour, Ali; Vahidi Mehrjardi, Mohammad Yahya

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

PRMT7双等位基因致病变异与一种可识别的综合征性神经发育障碍相关,其特征为身材矮小、肥胖以及颅面和手指异常。

Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; Wigby, Kristen M; Baralle, Diana; Mehrjardi, Mohammad Y V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E; Ercan-Sencicek, A Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C; Redman, Melody; Stegmann, Alexander P A; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N; Kraus, Alison; Valenzuela, Irene; McLean, Scott D; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E; Torti, Erin; Haack, Tobias B; Prada, Carlos E; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza

GGPS1-associated muscular dystrophy with and without hearing loss

GGPS1相关性肌营养不良症伴或不伴听力丧失

Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier-Barrot, Sandrine; Isapof, Arnaud; Mehrjardi, Mohammad Yahya Vahidi; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco; Whalen, Sandra; Vona, Barbara; Houlden, Henry; Maroofian, Reza