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

Randomised controlled trial of online behavioural sleep intervention for children with epilepsy

针对癫痫儿童的在线行为睡眠干预的随机对照试验

Gringras, Paul; Anilkumar, Aiswarya; Bray, Lucy; Carter, Bernie; Coffey, Tony; Cook, Georgia; Hardy, Will A S; Hughes, Dyfrig A; Lalnunhlimi, Sylvine; Morris, Christopher; Saron, Holly; Stibbs-Eaton, Lucy; Smith, Catrin Tudur; Wiggs, Luci; Pal, Deb K

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node

mTOR通路疾病:从实验室到临床的挑战与机遇以及mTOR节点

Mantoan Ritter, Laura; Annear, Nicholas M P; Baple, Emma L; Ben-Chaabane, Leila Y; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E; Coslett, Bryn; Crosby, Andrew H; Davies, D Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Dühring Fenger, Christina; Dunlop, Elaine A; Elmslie, Frances V; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C; Johnson, Simon R; Kearley, Kelly C; Kingswood, John C; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R; Mansour, Sahar; Mihaylov, Simeon R; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K; Bateman, Joseph M

Magnetic Resonance Imaging Spectrum of Cauda Equina and Conus Lymphoma: Keys to Unravel the Differential Diagnosis with a Review of the Literature

马尾和圆锥淋巴瘤的磁共振成像谱:文献综述揭示鉴别诊断的关键

Boruah, Deb K; Gogoi, Pallavi; Gogoi, Bidyut B; Sarma, Kalyan; Sarma, Gautam; Hazarika, Karuna; A, Augstine; Ahmed, Halimuddin

A Rare Case of Perineurioma of the Posterior Interosseous Nerve: A Case Report

罕见的后骨间神经周围神经瘤:病例报告

Newme, Kewithinwangbo; Boro, Sumanjit; Boruah, Deb K; Mehandiratta, Yash

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

SLC6A1变异体的致病性、分子功能和表型:一项遗传和临床分析

Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M; Hajianpour, M J; Pal, Deb K; Engelen, Marc; Hagebeuk, Eveline E O; Shinawi, Marwan; Heidlebaugh, Alexis R; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Freed, Amanda S; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R; Tiller, Jacob; Freed, Amber N; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke S; Lal, Dennis

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study

PIGN基因的双等位基因变异导致弗林斯综合征、多发性先天性异常-肌张力低下-癫痫综合征和神经系统表型:一项基因型-表型相关性研究

Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T; Alt, Kerstin; Böhrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M; Kuhn, Marius; Lemke, Johannes R; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K; Płoski, Rafał; Quarrell, Oliver W; Rosello, Monica; Rydzanicz, Małgorzata; Sabir, Ataf; Śmigiel, Robert; Stegmann, Alexander P A; Stewart, Helen; Stumpel, Constance; Szczepanik, Elżbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha

Spectral characterization and severity assessment of rice blast disease using univariate and multivariate models

利用单变量和多变量模型对稻瘟病进行光谱表征和严重程度评估

Mandal, Nandita; Adak, Sujan; Das, Deb K; Sahoo, Rabi N; Mukherjee, Joydeep; Kumar, Andy; Chinnusamy, Viswanathan; Das, Bappa; Mukhopadhyay, Arkadeb; Rajashekara, Hosahatti; Gakhar, Shalini

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

SLCO5A1和突触组装基因与青少年肌阵挛性癫痫的冲动性有关

Roshandel, Delnaz; Sanders, Eric J; Shakeshaft, Amy; Panjwani, Naim; Lin, Fan; Collingwood, Amber; Hall, Anna; Keenan, Katherine; Deneubourg, Celine; Mirabella, Filippo; Topp, Simon; Zarubova, Jana; Thomas, Rhys H; Talvik, Inga; Syvertsen, Marte; Striano, Pasquale; Smith, Anna B; Selmer, Kaja K; Rubboli, Guido; Orsini, Alessandro; Ng, Ching Ching; Møller, Rikke S; Lim, Kheng Seang; Hamandi, Khalid; Greenberg, David A; Gesche, Joanna; Gardella, Elena; Fong, Choong Yi; Beier, Christoph P; Andrade, Danielle M; Jungbluth, Heinz; Richardson, Mark P; Pastore, Annalisa; Fanto, Manolis; Pal, Deb K; Strug, Lisa J

Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications

青少年肌阵挛性癫痫预后和治疗结果的差异:青少年肌阵挛性癫痫生物学联盟提出的实用定义和分层医学分类方案

Rubboli, Guido; Beier, Christoph P; Selmer, Kaja K; Syvertsen, Marte; Shakeshaft, Amy; Collingwood, Amber; Hall, Anna; Andrade, Danielle M; Fong, Choong Yi; Gesche, Joanna; Greenberg, David A; Hamandi, Khalid; Lim, Kheng Seang; Ng, Ching Ching; Orsini, Alessandro; Striano, Pasquale; Thomas, Rhys H; Zarubova, Jana; Richardson, Mark P; Strug, Lisa J; Pal, Deb K