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

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

编码 TFIIIC2 复合物亚基的 GTF3C3 基因的双等位基因变异与人类和斑马鱼的神经发育表型相关。

Abdel-Hamid, Mohamed S; Paimboeuf, Adeline; Zaki, Maha S; Figueiredo, Fernanda; Abdel-Ghafar, Sherif F; Maher, Sabrina; Friðriksdóttir, Rún; Sulem, Patrick; Högnason, Hákon Björn; Hallgrímsdóttir, Sigrún; Rojas, Catarina Falleiros N; Kok, Fernando; Suri, Mohnish; Alves, César Augusto P F; Houlden, Henry; Maroofian, Reza; Patten, Shunmoogum A

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

BORCS5 中的致病变异会导致一系列神经发育障碍和神经退行性疾病,并伴有溶酶体功能障碍

Mencacci Niccolò E, Minakaki Georgia, Maroofian Reza, De Pace Raffaella, Paimboeuf Adeline, Shannon Patrick, Chitayat David, Magrinelli Francesca, Peng Wesley J, Chatterjee Diptaman, Eldessouky Sara H, Baptista Julia, Marton Tamas, Vogt Julie, Ortigoza-Escobar Juan Dario, Martorell Loreto, Gómez-Chiari Marta, Wentzensen Ingrid M, Kamsteeg Erik-Jan, Zaki Maha S, Scardamaglia Annarita, Zifarelli Giovanni, Al-Hassnan Zuhair Nasser, Miller Elka, Shinar Shiri, Matsa Lova S, Appikonda Sri Hari Chandan, Schwake Michael, Severino Mariasavina, Houlden Henry, Patten Shunmoogum A, Bonifacino Juan S, Bhatia Kailash P, Krainc Dimitri

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

BORCS8双等位基因变异会导致婴儿期发病的神经退行性疾病,并伴有溶酶体动力学改变。

De Pace, Raffaella; Maroofian, Reza; Paimboeuf, Adeline; Zamani, Mina; Zaki, Maha S; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Zeighami, Jawaher; Williamson, Chad D; Fleming, Emily; Zhou, Dihong; Gannon, Jennifer L; Thiffault, Isabelle; Roze, Emmanuel; Suri, Mohnish; Zifarelli, Giovanni; Bauer, Peter; Houlden, Henry; Severino, Mariasavina; Patten, Shunmoogum A; Farrow, Emily; Bonifacino, Juan S