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

Identifying virulent avian paramyxovirus type-1: A paediatric case of progressive encephalitis diagnosed by clinical metagenomics with case series review

鉴定强毒禽副黏病毒1型:一例通过临床宏基因组学诊断的儿童进行性脑炎病例及病例系列回顾

Brown, Julianne R; Ross, Craig S; Worth, Austen; Merve, Ashirwad; Storey, Nathaniel; Hacohen, Yael; Mankad, Kshitij; Kaliakatsos, Marios; Shendi, Hiba M; Atkinson, Laura; Gilmour, Kimberly; Hatcher, James; Lennon, Alexander; Bamford, Alasdair; Kusters, Maaike; Elfeky, Reem; Núñe, Alejandro; Brown, Ian H; Reid, Scott M; Cooper, Jayne; Byrne, Alexander M P; James, Joe; Lean, Fabian Zx; Banyard, Ashley C; Breuer, Judy

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

TBC1D7基因中5'UTR CCG扩增导致眼咽远端肌病

Van de Vondel, Liedewei; Curro, Riccardo; Facchini, Stefano; Xu, Isaac R L; De Winter, Jonathan; Quartesan, Ilaria; Monticelli, Alice; Alonso-Jimenez, Alicia; De Ridder, Willem; Bertini, Alessandro; Alves, Gustavo; Pizzuto, Francesca; Ugolini, Hermione; Pellerin, David; De Pooter, Tim; Merve, Ashirwad; Machado, Pedro; Sagath, Lydia; Neveling, Kornelia; Hoischen, Alexander; Hanna, Michael G; Pitceathly, Robert D S; Houlden, Henry; Tucci, Arianna; Bugiardini, Enrico; Brady, Stefen; Roberts, Mark; Danzi, Matt C; Züchner, Stephan; Baets, Jonathan; Cortese, Andrea

Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations

脑活检和宏基因组学在先天性免疫缺陷(IEI)和不明原因神经系统表现患者决策中的安全性和诊断效用

Maimaris, Jesmeen; Payne, Julia; Roa-Bautista, Adriel; Breuer, Judith; Storey, Nathaniel; Morfopoulou, Sofia; Bamford, Alasdair; D'Arco, Felice; Gilmour, Kimberly; Aquilina, Kristian; Hassell, Jane; Hacohen, Yael; Silva, Adikarige H D; Merve, Ashirwad; Jacques, Thomas S; Rao, Kanchan; Chiesa, Robert; Amrolia, Persis; Silva, Juliana; Braggins, Helen; Xu-Bayford, Jinhua; Goldblatt, David; Worth, Austen; Booth, Claire; Ip, Winnie; Qasim, Waseem; Kusters, Maaike; Kaliakatsos, Marios; Brown, Julianne R; Elfeky, Reem

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Testing Meningiomas With Methylation Arrays: Insights and Recommendations From a Large Single-Centre Study

利用甲基化芯片检测脑膜瘤:一项大型单中心研究的见解和建议

Ruiz, Fernanda; Rispoli, Rossella; Jaunmuktane, Zane; Merve, Ashirwad; D'Antona, Linda; Dutt, Monika; Sahm, Felix; Brandner, Sebastian

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

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J; Lamont, Phillipa J; Fahey, Michael C; Bugiardini, Enrico; Ravenscroft, Gianina

Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature

原发性眼眶横纹肌样瘤伪装成非典型持续性胎儿血管

Douch, Catherine; Merve, Ashirwad; Mankad, Kshitij; Jorgensen, Mette

PYROXD1-associated myopathy

PYROXD1相关肌病

D'Costa, Matthew Selwyn; Bugiardini, Enrico; Merve, Ashirwad; Morrow, Jasper M

Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice

儿童低级别胶质瘤:经典病理学在综合诊断实践中的作用

Stone, Thomas J; Merve, Ashirwad; Valerio, Fernanda; Yasin, Shireena A; Jacques, Thomas S