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

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

综合征性听力损失及其非综合征性听力损失类似症状的临床和遗传异质性

Koparir, Asuman; Carbajal, Paulina Bahena; Zamini, Mina; Naghinejad, Maryam; Najarzadeh Torbati, Paria; Hofrichter, Michaela A H; Tovornik, Stefanie; Koparir, Erkan; Dragicevic Babic, Neda; Rad, Aboulfazl; Owrang, Daniel; Kalay, Irem; Chamanrou, Niloofar; Martínez Völter, Luis Nicolás; Christophersen, Nele; Baranzehi, Tayebeh; Rajati, Mohsen; Loum, Stephen; Kunstmann, Erdmute; Shadab, Madiha; Abbasi, Ansar Ahmed; Doosti, Mohammad; Alidadiani, Neda; Ghaderi, Shahrooz; Haack, Tobias B; Alavi, Shahryar; Doll, Julia; Kremer, Hannie; Kordi-Tamandani, Dor Mohammad; Murphy, David; Mohammad, Rahema; Hebestreit, Helge; Ghayoor Karimiani, Ehsan; Flandin, Sophie; Linares, Paola; Villalobos, Daniel; Houlden, Henry; Galehdari, Hamid; Shehata-Dieler, Wafaa; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

希腊遗传性痉挛性截瘫的遗传图谱

Koutsis, Georgios; Chelban, Viorica; Kartanou, Chrisoula; Kontogeorgiou, Zoi; Koniari, Chrysoula; Ragazos, Nikolaos; Voudommatis, Charalampos; Zhelcheska, Kristina; Lynch, David S; Maroofian, Reza; Barkhordari, Ehsan; Mohammad, Rahema; Zaganas, Ioannis; Drakos, Minas; Xiromerisiou, Georgia; Dardiotis, Efthymios; Stefanis, Leonidas; Panas, Marios; Houlden, Henry; Karadima, Georgia

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

内含子FGF14 GAA重复序列扩增影响多系统萎缩的进展和生存

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laß, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population

巴基斯坦人群中与听力损失相关的基因中复发性和新型致病变异

Shadab, Madiha; Ben-Mahmoud, Afif; Martínez Völter, Luis Nicolás; Abbasi, Ansar Ahmed; Ku, Bonsu; Ejaz, Ahsan; Latif, Zahid; Gupta, Vijay; Owrang, Daniel; Jang, Mi-Hyeon; Zhang, Zijin; Mohammad, Rahema; Houlden, Henry; Kim, Hyung-Goo; Vona, Barbara

Comparative Effectiveness of Sodium-Glucose Cotransporter 2 (SGLT-2) Inhibitors and Glucagon-like Peptide-1 (GLP-1) Receptor Agonists in Reducing Adverse Cardiovascular Events in Type 2 Diabetes

钠-葡萄糖协同转运蛋白2 (SGLT-2) 抑制剂与胰高血糖素样肽-1 (GLP-1) 受体激动剂在降低2型糖尿病患者不良心血管事件方面的比较疗效

Shah, Syed Zakir; Khan, Rahema; Moeez, Sadaf; Kumar, Sanjay; Ejaz, Muhammad Umar; Aslam, Usman; Mustafa, Mian Waqar; Ashraf, Mahwish; Mustafa, Imtiaz; Asim, Fahad

Molecular and Serological Detection of Human Parvovirus B19 in a Sample of Iraqi Patients with Acute Lymphoid Leukemia in Relation to Hematological Parameters

伊拉克急性淋巴细胞白血病患者样本中人细小病毒B19的分子和血清学检测及其与血液学参数的关系

Rahema, Mohammed Abdul Hassan; Al-Shuwaikh, Arwa Mujahid; Al-Tameemi, Waseem Fadhil

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

NOTCH3基因双等位基因变异的临床和神经放射学表现谱

Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M; ElGhazali, Gehad; Zaki, Maha S; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P H; Jolly, Amy A; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G; Chung, Wendy K; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S; Houlden, Henry; Maroofian, Reza

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

TRAPPC6B双等位基因变异会导致一种伴有TRAPP II和转运障碍的神经发育障碍。

Hashem Almousa ,Sara A Lewis ,Somayeh Bakhtiari ,Sandra Hinz Nordlie ,Alex Pagnozzi ,Helen Magee ,Stephanie Efthymiou ,Jennifer A Heim ,Patricia Cornejo ,Maha S Zaki ,Najwa Anwar ,Shazia Maqbool ,Fatima Rahman ,Derek E Neilson ,Anusha Vemuri ,Sheng Chih Jin ,Xiao-Ru Yang ,Abolfazl Heidari ,Koen van Gassen ,Aurélien Trimouille ,Christel Thauvin-Robinet ,James Liu ,Ange-Line Bruel ,Hoda Tomoum ,Mennatallah O Shata ,Mais O Hashem ,Mehran Beiraghi Toosi ,Ehsan Ghayoor Karimiani ,Gözde Yeşil ,Lokesh Lingappa ,Debangana Baruah ,Farnoosh Ebrahimzadeh ,Julien Van-Gils ,Laurence Faivre ,Mina Zamani ,Hamid Galehdari ,Saeid Sadeghian ,Gholamreza Shariati ,Rahema Mohammad ,Jasper van der Smagt ,Alya Qari ,John B Vincent ,A Micheil Innes ,Ali Dursun ,R Köksal Özgül ,Halil Tuna Akar ,Kaya Bilguvar ,Cyril Mignot ,Boris Keren ,Claudia Raveli ,Lydie Burglen ,Alexandra Afenjar ,Laura Donker Kaat ,Marjon van Slegtenhorst ,Fowzan Alkuraya ,Henry Houlden ,Sergio Padilla-Lopez ,Reza Maroofian ,Michael Sacher ,Michael C Kruer

Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism

非典型帕金森综合征纵向队列研究中胃造瘘术的发生频率和结果

Kobylecki, Christopher; Chelban, Viorica; Goh, Yee Yen; Michou, Emilia; Fumi, Riona; Theilmann Jensen, Marte; Mohammad, Rahema; Costantini, Alyssa; Vijiaratnam, Nirosen; Pavey, Samantha; Pavese, Nicola; Leigh, P Nigel; Rowe, James B; Hu, Michele T; Church, Alistair; Morris, Huw R; Houlden, Henry

Clinical Practices and Opinions toward Gastrostomy Use in Patients with Atypical Parkinsonian Syndromes: A National Survey in the UK

英国一项全国性调查:非典型帕金森综合征患者胃造瘘术的临床实践和意见

Kobylecki, Christopher; Goh, Yee Yen; Mohammad, Rahema; Beat, Alanna; Michou, Emilia; Pavey, Samantha; Morris, Huw; Houlden, Henry; Chelban, Viorica