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

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders

评估DNA甲基化表观遗传特征作为疑似遗传疾病患者的一线诊断测试

Tkemladze, Tinatin; Campbell, Christopher; Bregvadze, Kakha; Kvaratskhelia, Eka; Abzianidze, Elene; Demain, Leigh; Jenkinson, Sarah; Hilton, Sarah; Levy, Michael; Kerkhof, Jennifer; Gokhale, David; Sadikovic, Bekim; Banka, Siddharth

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

DAP3 中的双等位基因变异导致线粒体小亚基组装减少,从而导致细胞凋亡改变和 Perrault 综合征谱表型

Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh-Bergès, Ruth I C Glasgow, Kyle Thompson, Monika Oláhov

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Subthalamic Electrophysiological Mapping of Gait Initiation Dynamics and Freezing in Parkinson's Disease

帕金森病患者步态启动动力学和冻结的丘脑底核电生理定位

Collomb-Clerc, Antoine; Yeche, Mathieu; Demain, Adèle; Van Hamme, Angèle; Olivier, Claire; Belaid, Hayat; Ziri, Déborah; Derrey, Stéphane; Fernandez-Vidal, Sara; Lehongre, Katia; Karachi, Carine; Lau, Brian; Welter, Marie-Laure

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

DNA甲基化分析在遗传未明的儿童癫痫诊断中的应用及CHD2表观遗传特征的完善

LaFlamme, Christy W; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E; Russ-Hall, Sophie J; Schneider, Amy L; Bonkowski, Emily S; Almanza Fuerte, Edith P; Allan, Talia J; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B; Nyaga, Denis M; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V; Darnell, Daniel; Olsen, Scott R; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L; Gupta, Sachin; Jones, Elizabeth A; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C; Rosenfeld, Jill A; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L; Wang, Zhaoming; Berkovic, Samuel F; Sadleir, Lynette G; Miller, Danny E; Scheffer, Ingrid E; Sadikovic, Bekim; Mefford, Heather C

Stroke rehabilitation in urban and rural settings in the Philippines: Protocol for an interview and visual elicitation study

菲律宾城乡地区中风康复:访谈和视觉诱导研究方案

Buckingham, Sarah Ann; Dar Juan, Alyssa Marie; Demain, Sara; De Vera, June Ann; Estrada, Myrna; Hermosura-Faeldon, Lorraine; Kent, Bridie; Linog, Maria Teresa Sharon; Navea, Roy Francis; Jones, Fiona

Multicentre pilot randomised control trial of a self-directed exergaming intervention for poststroke upper limb rehabilitation: research protocol

一项针对卒中后上肢康复的自主运动游戏干预的多中心试点随机对照试验:研究方案

Broderick, Michelle; Burridge, Jane; Demain, Sara; Johnson, Louise; Brereton, Joe; O'Shea, Robert; Bentley, Paul

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

DAP3 中的双等位基因变异导致线粒体小亚基组装减少,从而导致内在和外在细胞凋亡改变以及 Perrault 综合征谱系表型

Thomas B Smith #, Robert Kopajtich #, Leigh A M Demain, Alessandro Rea, Huw B Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh-Bergès, Ruth I C Glasgow, Kyle Thompson, Monika Ol

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Principles into Practice: An Observational Study of Physiotherapists use of Motor Learning Principles in Stroke Rehabilitation

将原则付诸实践:一项关于理疗师在卒中康复中应用运动学习原则的观察性研究

Johnson, Louise; Burridge, Jane; Ewings, Sean; Westcott, Ellie; Gayton, Marianne; Demain, Sara