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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders

TUBB2A基因中的一个突变热点与异二聚体形成受损和严重的脑发育障碍有关

Di Pasquale, Gabriele; Colella, Jacopo; Di Cataldo, Carola P; Soler, Miguel A; Fortuna, Sara; Mizrahi-Powell, Emma; Nizon, Mathilde; Cognè, Benjamin; Turchetti, Valentina; Mangano, Giuseppe D; Comisi, Francesco F; Cecchetti, Corrado; Giliberti, Alessandra; Nardello, Rosaria; Pavone, Piero; Falsaperla, Raffaele; Di Rosa, Gabriella; Evrony, Gilad D; Delvecchio, Maurizio; Severino, Mariasavina; Accogli, Andrea; Vittori, Alessandro; Salpietro, Vincenzo

TDP-43 pathology induces CD8(+) T cell activation through cryptic epitope recognition.

TDP-43 病理通过隐蔽表位识别诱导 CD8(+) T 细胞活化

Chizari Shahab, Zanovello Matteo, Kong Steven, Saigal Vidur, Brown Anna-Leigh, Turchetti Valentina, Zampedri Luca, Skorupinska Iwona, Minicuci Giacomo Maria, Paron Francesca, Tonin Paola, Marchetto Giulia, Li Ziyi, Colón-Mercado Jennifer M, Dattilo Dario, Barattucci Simone, Gatt Ariana, Qi Andy, Hanna Michael, Ward Michael, Petrucelli Leonard, Romano Maurizio, Vattemi Gaetano, Buratti Emanuele, Malapsina Andrea, Merve Ashirwad, Machado Pedro M, Soraru Gianni, Fratta Pietro, Jiang Ning

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

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

一种新型MAG基因变异导致巴基斯坦近亲结婚家庭出现遗传性痉挛性截瘫

Akram, Rabia; Anwar, Haseeb; Muzaffar, Humaira; Turchetti, Valentina; Lau, Tracy; Vona, Barbara; Makhdoom, Ehtisham Ul Haq; Iqbal, Javed; Mahmood Baig, Shahid; Hussain, Ghulam; Efthymiou, Stephanie; Houlden, Henry

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

由双等位基因PRDX3变异(包括复发性p.Asp202Asn)引起的纯小脑共济失调

Efthymiou, Stephanie; Novis, Luiz E; Koutsis, Georgios; Koniari, Chrysoula; Maroofian, Reza; Turchetti, Valentina; Velonakis, Georgios; Vasconcellos, Luiz F; Raskin, Salmo; Srinivasan, Varunvenkat M; Pagnamenta, Alistair T; Arun, Yaramanchanahalli B; Kinhal, Uddhava V; Gowda, Vykuntaraju K; Teive, Helio A G; Houlden, Henry

Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS)

对格鲁吉亚肌萎缩侧索硬化症(ALS)患者C9orf72重复扩增的分析

Kekenadze, Mariam; Rocca, Clarissa; Turchetti, Valentina; Nagy, Sara; Kvirkvelia, Nana; Vashadze, Shorena; Kvaratskhelia, Eka; Beridze, Maia; Kaiyrzhanov, Rauan; Houlden, Henry