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

Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children

帕金森综合征-肌张力障碍量表在婴幼儿中的开发和初步验证

Pons, Roser; Pearson, Toni S; Perez-Dueñas, Belen; Garcia-Cazorla, Angels; Kurian, Manju A; Dalivigka, Zoi; Zouvelou, Vasiliki; Outsika, Chrysa; Kokkinou, Eleftheria; Sigatullina-Bondarenko, Maria; Darling, Alejandra; O'Callaghan, Maria Del Mar; Spaull, Robert; Steel, Dora B D; Salamou, Evdokia; Forjaz, Maria João; Rodriguez-Blazquez, Carmen

Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing

通过全基因组测序鉴定出的CTBP1基因杂合新生错义变异导致肌张力低下、共济失调、发育迟缓和牙釉质缺陷综合征(HADDTS)。

Silvia Beatriz Sanchez Marco; Pardington, Emily; Monaghan, Marie; Spaull, Robert; Fadilah, Ala; Kurian, Kathreena; Vijayakumar, Kayal; Smithson, Sarah; Majumdar, Anirban

Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy

接受酶替代疗法治疗的CLN2-巴顿病患者运动障碍的演变

Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; Gissen, Paul; Kurian, Manju A

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology

避免过早下诊断结论:来自两名患有与双重病理相关的神经递质障碍儿童的教训

Salazar-Villacorta, Ainara; Spaull, Robert; Chowdhury, Samyami; Mukhtyar, Bina; Chitre, Manali; Armstrong, Ruth; Sa, Mario; Chandratre, Saleel; Kini, Usha; Chinthapalli, Ravi; Mankad, Kshitij; Sudhakar, Sniya; Pope, Simon; Heales, Simon; Kurian, Manju A

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina

The miRNA transcriptome of cerebrospinal fluid in preterm infants reveals the signaling pathways that promote reactive gliosis following cerebral hemorrhage

早产儿脑脊液miRNA转录组揭示了脑出血后促进反应性胶质增生的信号通路

Gialeli, Andriana; Spaull, Robert; Plösch, Torsten; Uney, James; Llana, Oscar Cordero; Heep, Axel

Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea-treated KCNJ11 neonatal diabetes

接受磺脲类药物治疗的KCNJ11新生儿糖尿病成人患者的肠促胰岛素激素对碳水化合物和蛋白质/脂肪的反应得以保留。

Bowman, Pamela; Patel, Kashyap A; McDonald, Timothy J; Holst, Jens J; Hartmann, Bolette; Leveridge, Maria; Shields, Beverley M; Hammersley, Suzie; Spaull, Steve R; Knight, Bridget A; Flanagan, Sarah E; Shepherd, Maggie H; Andrews, Rob C; Hattersley, Andrew T

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

MED27、SLC6A7 和 MPPE1 变异与伴有严重肌张力障碍的复杂神经发育障碍有关

Reid, Kimberley M; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M; Papandreou, Apostolos; Simpson, Michael A; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R; Scott, Richard H; Vandenberg, Robert J; Raymond, F Lucy; Chong, Wui K; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E; Campeau, Philippe M; Harvey, Robert J; Kurian, Manju A

Modulation of macrophage inflammatory function through selective inhibition of the epigenetic reader protein SP140

通过选择性抑制表观遗传阅读蛋白SP140来调节巨噬细胞的炎症功能

Mohammed Ghiboub ,Jan Koster ,Peter D Craggs ,Andrew Y F Li Yim ,Anthony Shillings ,Sue Hutchinson ,Ryan P Bingham ,Kelly Gatfield ,Ishtu L Hageman ,Gang Yao ,Heather P O'Keefe ,Aaron Coffin ,Amish Patel ,Lisa A Sloan ,Darren J Mitchell ,Thomas G Hayhow ,Laurent Lunven ,Robert J Watson ,Christopher E Blunt ,Lee A Harrison ,Gordon Bruton ,Umesh Kumar ,Natalie Hamer ,John R Spaull ,Danny A Zwijnenburg ,Olaf Welting ,Theodorus B M Hakvoort ,Anje A Te Velde ,Johan van Limbergen ,Peter Henneman ,Rab K Prinjha ,Menno P J de Winther ,Nicola R Harker # ,David F Tough # ,Wouter J de Jonge #

STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

STXBP1 终止密码子突变与无癫痫的复杂早发性运动障碍相关

Spaull, Robert; Steel, Dora; Barwick, Katy; Prabhakar, Prab; Wakeling, Emma; Kurian, Manju A