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

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

WDR44 WD40重复结构域的变异会损害纤毛发生起始,从而导致一系列纤毛病。

Andrea Accogli # ,Saurabh Shakya # ,Taewoo Yang # ,Christine Insinna ,Soo Yeon Kim ,David Bell ,Kirill R Butov ,Mariasavina Severino ,Marcello Niceta ,Marcello Scala ,Hyun Sik Lee ,Taekyeong Yoo ,Jimmy Stauffer ,Huijie Zhao ,Chiara Fiorillo ,Marina Pedemonte ,Maria C Diana ,Simona Baldassari ,Viktoria Zakharova ,Anna Shcherbina ,Yulia Rodina ,Christina Fagerberg ,Laura Sønderberg Roos ,Jolanta Wierzba ,Artur Dobosz ,Amanda Gerard ,Lorraine Potocki ,Jill A Rosenfeld ,Seema R Lalani ,Tiana M Scott ,Daryl Scott ,Mahshid S Azamian ,Raymond Louie ,Hannah W Moore ,Neena L Champaigne ,Grace Hollingsworth ,Annalaura Torella ,Vincenzo Nigro ,Rafal Ploski ,Vincenzo Salpietro ,Federico Zara ,Simone Pizzi ,Giovanni Chillemi ,Marzia Ognibene ,Erin Cooney ,Jenny Do ,Anders Linnemann ,Martin J Larsen ,Suzanne Specht ,Kylie J Walters ,Hee-Jung Choi ,Murim Choi ,Marco Tartaglia ,Phillippe Youkharibache ,Jong-Hee Chae ,Valeria Capra ,Sung-Gyoo Park ,Christopher J Westlake

De novo variants in DENND5B cause a neurodevelopmental disorder

DENND5B 的新生变异导致神经发育障碍

Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Ali Fatemi, Elly Brokamp, Anna Bican, John A Phillips 3rd, Mary E Koziura, Michael Nicouleau, Marlene Rio, Karine Siquier, Nathalie Boddaert, Ilaria Musante, Serena Tamburro, Simona Baldassari, Michele Iacomino, Paolo Scu

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

SLITRK3 的人类突变与小鼠 GABA 能突触发育有关

Stephanie Efthymiou, Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala, Nancy T Malintan, Muhammad Ilyas, Nikoleta Vavouraki, Kshitij Mankad, Reza Maroofian, Clarissa Rocca, Vincenzo Salpietro, Shenela Lakhani, Eric J Mallack, Timothy Blake Palculict, Hong Li, Guojun Zhang, Faisal Zafar,

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants

GRID1 和 GRID2 错义人类变异的临床特征、功能后果和救援药理学

James P Allen, Kathryn B Garber, Riley Perszyk, Cara T Khayat, Steven A Kell, Maki Kaneko, Catherine Quindipan, Sulagna Saitta, Roger L Ladda, Stacy Hewson, Michal Inbar-Feigenberg, Chitra Prasad, Asuri N Prasad, Leah Olewiler, Weiyi Mu, Liana S Rosenthal, Marcello Scala, Pasquale Striano, Federico

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

mTORC1 功能分析揭示 SZT2 功能丧失变异和创始框内缺失

Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily Bryant, Divakar S Mithal, Irena Bellinski, Lisa Kinsley, Mona Grimmel, Eva M C Schwaibold, Constance Smith-Hicks, Anna Chassevent, Marcello Scala, Andrea Accogli, Anna

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

RAC3 功能的变异特异性变化会破坏神经发育表型中的皮质发生

Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

HPDL基因的双等位基因变异会导致纯粹型和复杂性遗传性痉挛性截瘫。

Manuela Wiessner,Reza Maroofian,Meng-Yuan Ni,Andrea Pedroni,Juliane S Müller,Rolf Stucka,Christian Beetz,Stephanie Efthymiou,Filippo M Santorelli,Ahmed A Alfares,Changlian Zhu,Isabella Ceccherini,Michele Iacomino,Federico Zara,Vincenzo Salpietro,Marcello Scala,Marta Rusmini,Yiran Xu,Yinghong Wang,Yasuhiro Suzuki,Kishin Koh,Haitian Nan,Hiroyuki Ishiura,Shoji Tsuji,Laëtitia Lambert,Emmanuelle Schmitt,Elodie Lacaze,Hanna Küpper,David Dredge,Cara Skraban,Amy Goldstein,Mary J H Willis,Katheryn Grand,John M Graham,Richard A Lewis,Francisca Millan,Özgür Duman,Nihal Dündar,Gökhan Uyanik,Ludger Schöls,Peter Nürnberg,Gudrun Nürnberg,Andrea Catala Bordes,Pavel Seeman,Martin Kuchar,Hossein Darvish,Adriana Rebelo,Filipa Bouçanova,Jean-Jacques Medard,Roman Chrast,Michaela Auer-Grumbach,Fowzan S Alkuraya,Hanan Shamseldin,Saeed Al Tala,Jamileh Rezazadeh Varaghchi,Maryam Najafi,Selina Deschner,Dieter Gläser,Wolfgang Hüttel,Michael C Kruer,Erik-Jan Kamsteeg,Yoshihisa Takiyama,Stephan Züchner,Jonathan Baets,Rebecca Schüle,Rita Horvath,Henry Houlden,Luca Bartesaghi,Hwei-Jen Lee,Konstantinos Ampatzis,Tyler Mark Pierson,Jan Senderek

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

WIPI2 纯合错义变异会导致先天性自噬障碍,并伴有不同临床严重程度和疾病过程的神经发育障碍

Reza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, Marcello Scala, Khalid Hundallah, Mariasavina Severino, Mohamed S Abdel-Hamid, Jill A Rosenfeld, Darius Ebrahimi-Fakhari, Zahir Ali, Fazal Rahim, Henry Houlden, Sharon A Tooze, Norah S Alsaleh, Maha S Zaki

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

一种相对常见的纯合 TRAPPC4 剪接变体与婴儿早期神经退行性疾病有关

Shereen G Ghosh #, Marcello Scala #, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly,

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

ADARB1 中的双等位基因变异编码 dsRNA 特异性腺苷脱氨酶,可导致严重的发育性和癫痫性脑病

Reza Maroofian #, Jiří Sedmík #, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O'Connell, Henry Houlden1