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

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK基因突变与神经发育障碍有关

Alabdi Lama, Altuwaijri Norah, Zhu Jun-Yi, Efthymiou Stephanie, Lee Hangnoh, Duan Jianli, Salem Israa, Yu Piao, Abdullah Nor Linda, Alzahrani Fatema, Xu Qing, Felemban Mashael M, Alfaifi Abdullah, Rahman Fatima, Christoforou Marilena, Maqbool Shazia, Martinez-Agosto Julian A, Alsaif Hessa S, Hashem Mais, Helaby Rana, Alsulaiman Ahood, Maroofian Reza, Houlden Henry, Arold Stefan T, Ibrahim Leena A, Han Zhe, Alkuraya Fowzan S

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

双等位基因MYMX变异会导致一种综合征性先天性肌病,其特征为明显的面瘫、生长受限和畸形。

Rahman, Fatima; Marsili, Luisa; Pasquetti, Domizia; Rad, Aboulfazl; Nadeem Anjum, Muhammad; Oprea, Gabriela; Cheema, Huma Arshad; Vona, Barbara; Augusto Alves, Cesar; Houlden, Henry; Maqbool, Shazia; Efthymiou, Stephanie; Smol, Thomas; Maroofian, Reza

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

遗传性糖基磷脂酰肌醇缺乏症的临床和遗传谱

Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M; Jewell, Jerry L; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Delgado Alvarez, Ignacio; Felipe-Rucián, Ana; Haridy, Nourelhoda A; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; Rahman, Fatima; Maqbool, Shazia; Yadav, Rashmi; Salpietro, Vincenzo; Maroofian, Reza; Patel, Rajan; Radhakrishnan, Rupa; Prabhu, Sanjay P; Lichtenbelt, Klaske; Stewart, Helen; Murakami, Yoshiko; Löbel, Ulrike; D'Arco, Felice; Wakeling, Emma; Jones, Wendy; Hay, Eleanor; Bhate, Sanjay; Jacques, Thomas S; Mirsky, David M; Whitehead, Matthew T; Zaki, Maha S; Sultan, Tipu; Striano, Pasquale; Jansen, Anna C; Lequin, Maarten; de Vries, Linda S; Severino, Mariasavina; Edmondson, Andrew C; Menzies, Lara; Campeau, Philippe M; Houlden, Henry; McTague, Amy; Efthymiou, Stephanie; Mankad, Kshitij

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder

扩展 PPP1R21 相关神经发育障碍的表型

Almannai, Mohammed; Marafi, Dana; Zaki, Maha S; Maroofian, Reza; Efthymiou, Stephanie; Saadi, Nebal Waill; Filimban, Bilal; Dafsari, Hormos Salimi; Rahman, Fatima; Maqbool, Shazia; Faqeih, Eissa; Al Mutairi, Fuad; Alsharhan, Hind; Abdelaty, Omar; Bin-Hasan, Saadoun; Duan, Ruizhi; Noureldeen, Mahmoud M; Alqattan, Alaa; Houlden, Henry; Hunter, Jill V; Posey, Jennifer E; Lupski, James R; El-Hattab, Ayman W

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

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

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Lunapark 缺乏会导致常染色体隐性遗传的神经发育表型,其特征为退行性病变、癫痫和明显的脑部异常。

Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian G E L; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, P Y Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymuş, Fahrettin; Scantlebury, Morris H; Yeşil, Gözde; Rosenfeld, Jill Anne; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud Y; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

巩固双等位基因MAPKAPK5致病变异与一种独特的综合征性神经发育障碍的关联

Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S; Maqbool, Shazia; Anwa, Najwa; Ruiz-Pérez, Victor L; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry

Establishing performance standards for child development: learnings from the ECDI2030

制定儿童发展绩效标准:从 ECDI2030 中汲取的经验教训

Petrowski, Nicole; de Castro, Filipa; Davis-Becker, Susan; Gladstone, Melissa; Lindgren Alves, Claudia Regina; Becher, Yvonne; Grisham, Jennifer; Donald, Kirsten; van den Heuvel, Meta; Kandawasvika, Gwendoline; Maqbool, Shazia; Tofail, Fahmida; Xin, Tao; Zeinoun, Pia; Cappa, Claudia

Supporting Depressed Mothers of Young Children with Intellectual Disability: Feasibility of an Integrated Parenting Intervention in a Low-Income Setting

支持患有智力障碍幼儿的抑郁母亲:在低收入环境中实施综合育儿干预的可行性

Chaudhry, Nasim; Sattar, Rabia; Kiran, Tayyeba; Wan, Ming Wai; Husain, Mina; Hidayatullah, Sobia; Ali, Bushra; Shafique, Nadia; Suhag, Zamir; Saeed, Qamar; Maqbool, Shazia; Husain, Nusrat