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

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Polycomb复合物与染色质结合失衡会导致神经发育障碍。

Borges Rodrigo L, González-Blanco Gretter, Arigela Harikumar, Huang Yingyu, Caeiro Lucas D, Fattakhov Nikolai, Lepore Stefano, Garcia-Martinez Liliana, Maurice Matea, Mehta Pushti D, Park Emily J, MacGillivray Kailynn, Nehru Jevithen, Chau Matthew, Robayo Maria C, Abad Clemer, Bilbao-Martinez Alicia, Monteiro Fabiola, Luo Xi, Tan Song, Bilbao Daniel, Sidoli Simone, Di Stefano Bruno, Walz Katherina, Saltzman Arneet L, Verdun Ramiro E, Shiekhattar Ramin, Morey Lluis

The involvement of TNFRSF25 in age-related hearing loss

TNFRSF25参与年龄相关性听力损失

Roche, Marie Valerie; Tang, Pei-Ciao; Yan, Denise; De Marchena, Michelle Rose; Robayo, Maria Camila; Abad, Clemer; Guo, Yan; Gong, Feng; Walz, Katherina; Liu, Xue Zhong

Carboxypeptidase D deficiency causes hearing loss amenable to treatment

羧肽酶D缺乏症会导致听力损失,但这种损失可以通过治疗得到改善。

Memoona Ramzan ,Natalie Ortiz-Vega ,Mohammad Faraz Zafeer ,Amanda G Lobato ,Tahir Atik ,Clemer Abad ,Nirmal Vadgama ,Duygu Duman ,Nazım Bozan ,Enise Avcı Durmuşalioǧlu ,Sunny Greene ,Shengru Guo ,Suna Tokgöz-Yılmaz ,Merve Koç Yekedüz ,Fatma Tuba Eminoğlu ,Mehmet Aydın ,Serhat Seyhan ,Ioannis Karakikes ,Vladimir Camarena ,Maria Camila Robayo ,Tijana Canic ,Güney Bademci ,Gaofeng Wang ,Amjad Farooq ,Mei-Ling Joiner ,Katherina Walz ,Daniel F Eberl ,Jamal Nasir ,R Grace Zhai ,Mustafa Tekin

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

SORD缺陷大鼠出现以运动功能为主的周围神经病变,揭示了新的病理生理学见解。

Rebelo, Adriana P; Abad, Clemer; Dohrn, Maike F; Li, Jian J; Tieu, Ethan K; Medina, Jessica; Yanick, Christopher; Huang, Jingyu; Zotter, Brendan; Young, Juan I; Saporta, Mario; Scherer, Steven S; Walz, Katherina; Zuchner, Stephan

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia

ADAMTSL2 突变决定了牙齿发育不良的表型严重程度

Vladimir Camarena, Monique M Williams, Alejo A Morales, Mohammad F Zafeer, Okan V Kilic, Ali Kamiar, Clemer Abad, Monica A Rasmussen, Laurence M Briski, LéShon Peart, Guney Bademci, Deborah S Barbouth, Sarah Smithson, Gaofeng Wang, Lina A Shehadeh, Katherina Walz, Mustafa Tekin

Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning

Gatad2b 与神经发育综合征 GAND 有关,在神经发育和皮质模式形成中起着关键作用

Clemer Abad, Maria C Robayo, Maria Del Mar Muñiz-Moreno, Maria T Bernardi, Maria G Otero, Christina Kosanovic, Anthony J Griswold, Tyler Mark Pierson, Katherina Walz, Juan I Young

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

遗传性听力损失的遗传异质性:纤毛运动蛋白 TOGARAM2 的潜在作用

Ramzan Memoona, Zafeer Mohammad Faraz, Abad Clemer, Guo Shengru, Owrang Daniel, Alper Ozgul, Mutlu Ahmet, Atik Tahir, Duman Duygu, Bademci Guney, Vona Barbara, Kalcioglu Mahmut Tayyar, Walz Katherina, Tekin Mustafa

Fatal septicemia in 2 South American camelids with caudal C3-pyloric-duodenal adenocarcinoma

2只患有尾部C3-幽门-十二指肠腺癌的南美骆驼科动物死于败血症

Abad, Clemer; Fritz, Heather; Gonzales-Viera, Omar

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

Sord 缺陷型大鼠会发展出以运动功能为主的周围神经病变,揭示了新的病理生理机制。

Rebelo, Adriana P; Abad, Clemer; Dohrn, Maike F; Li, Jian J; Tieu, Ethan; Medina, Jessica; Yanick, Christopher; Huang, Jingyu; Zotter, Brendan; Young, Juan I; Saporta, Mario; Scherer, Steven S; Walz, Katherina; Zuchner, Stephan

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

MINAR2基因(编码膜整合型NOTCH2相关受体2)的突变会导致人类和小鼠耳聋。

Bademci, Guney; Lachgar-Ruiz, María; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Yildirim Baylan, Muzeyyen; Ingham, Neil J; Chen, Jing; Sineni, Claire J; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P; Chioza, Barry A; Walz, Katherina; Steel, Karen P; Nasir, Jamal; Tekin, Mustafa