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

Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression

NF2相关神经鞘瘤病良性肿瘤的放射治疗:一项纳入266例接受放射治疗患者的全国性研究显示,恶性肿瘤/恶性进展显著增加

Evans, D Gareth; Halliday, Dorothy; Obholzer, Rupert; Afridi, Shazia; Forde, Claire; Rutherford, Scott A; Hammerbeck-Ward, Charlotte; Lloyd, Simon K; Freeman, Simon M; Pathmanaban, Omar N; Thomas, Owen M; Laitt, Roger D; Stivaros, Stavros; Kilday, John-Paul; Vassallo, Grace; McBain, Catherine; Lavin, Timothy; Paterson, Chay; Whitfield, Gillian; McCabe, Martin G; Axon, Patrick R; Halliday, Jane; Mackeith, Samuel; Parry, Allyson; Harkness, Elaine F; Buttimore, Juliette; King, Andrew T

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

预先储存样本有助于在患有空泡性脑白质病的婴儿进行分子尸检后诊断腺苷酸琥珀酸酶缺乏症。

Sitaram, Spatikha; Banka, Hetalika C; Vassallo, Grace; Pavaine, Julija; Fairclough, Adele; Wright, Ronnie; Fairbanks, Lynette; Bierau, Jörgen; Bowden, Lydia; Schwahn, Bernd; Horman, Alistair; Banka, Siddharth

Neuroanatomical correlates of working memory performance in Neurofibromatosis 1

神经纤维瘤病1型患者工作记忆表现的神经解剖学相关性

Sawyer, Cameron; Green, Jonathan; Lim, Ben; Pobric, Gorana; Jung, JeYoung; Vassallo, Grace; Evans, D Gareth; Stagg, Charlotte J; Parkes, Laura M; Stivaros, Stavros; Muhlert, Nils; Garg, Shruti

Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution

2型神经纤维瘤病的疾病进程:一项对同一机构就诊的353例患者进行30年随访的研究

Forde, Claire; King, Andrew T; Rutherford, Scott A; Hammerbeck-Ward, Charlotte; Lloyd, Simon K; Freeman, Simon R; Pathmanaban, Omar N; Stapleton, Emma; Thomas, Owen M; Laitt, Roger D; Stivaros, Stavros; Kilday, John-Paul; Vassallo, Grace; McBain, Catherine; Kerrigan, Simon; Smith, Miriam J; McCabe, Martin G; Harkness, Elaine F; Evans, D Gareth

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

ALG13 X连锁智力障碍:新变异、糖基化分析和扩展表型

Alsharhan, Hind; He, Miao; Edmondson, Andrew C; Daniel, Earnest J P; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J; Jones, Elizabeth A; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H; Jin, Sheng C; Bilguvar, Kaya; Christodoulou, John; Webster, Richard I; Yearwood, Katherine R; Ng, Bobby G; Freeze, Hudson H; Kruer, Michael C; Li, Dong; Raymond, Kimiyo M; Bhoj, Elizabeth J; Sobering, Andrew K

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

SLC12A5 基因突变与婴儿期游走性局灶性癫痫发作相关

Stödberg Tommy, McTague Amy, Ruiz Arnaud J, Hirata Hiromi, Zhen Juan, Long Philip, Farabella Irene, Meyer Esther, Kawahara Atsuo, Vassallo Grace, Stivaros Stavros M, Bjursell Magnus K, Stranneheim Henrik, Tigerschiöld Stephanie, Persson Bengt, Bangash Iftikhar, Das Krishna, Hughes Deborah, Lesko Nicole, Lundeberg Joakim, Scott Rod C, Poduri Annapurna, Scheffer Ingrid E, Smith Holly, Gissen Paul, Schorge Stephanie, Reith Maarten E A, Topf Maya, Kullmann Dimitri M, Harvey Robert J, Wedell Anna, Kurian Manju A

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

对与 TREX1、RNASEH2A、RNASEH2B、RNASEH2C、SAMHD1、ADAR 和 IFIH1 基因突变相关的人类疾病表型进行表征

Crow, Yanick J; Chase, Diana S; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M A; Gornall, Hannah L; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M; Bahi-Buisson, Nadia; Bailey, Kathryn M; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W; Bernard, Geneviève; Bianchi, Marika; Billette de Villemeur, Thierry; Blair, Edward M; Bloom, Miriam; Burlina, Alberto B; Carpanelli, Maria Luisa; Carvalho, Daniel R; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E; Chitayat, David A; Collins, Abigail E; Sierra Corcoles, Concepcion; Cordeiro, Nuno J V; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C; D'Arrigo, Stefano; De Goede, Christian G E L; De Laet, Corinne; De Waele, Liesbeth M H; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C; Fazzi, Elisa; Ferrie, Colin D; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D; Kirk, Edwin P; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J; Lin, Jean-Pierre S-M; Linnankivi, Tarja; Mackay, Mark T; Marom, Daphna R; Marques Lourenço, Charles; McKee, Shane A; Moroni, Isabella; Morton, Jenny E V; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J; Olivieri, Ivana; Ostergaard, John R; Pérez-Dueñas, Belén; Prendiville, Julie S; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A; Sinha, Gyanranjan P; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I; Straussberg, Rachel; Swoboda, Kathryn J; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y; te Water Naude, Johann; Wee Teik, Keng; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B; Wassmer, Evangeline; Webb, Hannah J; Whitehouse, William P; Whitney, Robyn N; Zaki, Maha S; Zuberi, Sameer M; Livingston, John H; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

利用全外显子组测序确定多种线粒体呼吸链复合物缺陷的遗传基础

Taylor, Robert W; Pyle, Angela; Griffin, Helen; Blakely, Emma L; Duff, Jennifer; He, Langping; Smertenko, Tania; Alston, Charlotte L; Neeve, Vivienne C; Best, Andrew; Yarham, John W; Kirschner, Janbernd; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Baric, Ivo; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Kleinle, Stephanie; Morris, Andrew A M; Vassallo, Grace; Gorman, Grainne S; Ramesh, Venkateswaran; Turnbull, Douglass M; Santibanez-Koref, Mauro; McFarland, Robert; Horvath, Rita; Chinnery, Patrick F

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

对与 TREX1、RNASEH2A、RNASEH2B、RNASEH2C、SAMHD1 和 ADAR 基因突变相关的 Aicardi-Goutières 综合征中干扰素相关生物标志物的评估:一项病例对照研究

Rice, Gillian I; Forte, Gabriella M A; Szynkiewicz, Marcin; Chase, Diana S; Aeby, Alec; Abdel-Hamid, Mohamed S; Ackroyd, Sam; Allcock, Rebecca; Bailey, Kathryn M; Balottin, Umberto; Barnerias, Christine; Bernard, Genevieve; Bodemer, Christine; Botella, Maria P; Cereda, Cristina; Chandler, Kate E; Dabydeen, Lyvia; Dale, Russell C; De Laet, Corinne; De Goede, Christian G E L; Del Toro, Mireia; Effat, Laila; Enamorado, Noemi Nunez; Fazzi, Elisa; Gener, Blanca; Haldre, Madli; Lin, Jean-Pierre S-M; Livingston, John H; Lourenco, Charles Marques; Marques, Wilson Jr; Oades, Patrick; Peterson, Pärt; Rasmussen, Magnhild; Roubertie, Agathe; Schmidt, Johanna Loewenstein; Shalev, Stavit A; Simon, Rogelio; Spiegel, Ronen; Swoboda, Kathryn J; Temtamy, Samia A; Vassallo, Grace; Vilain, Catheline N; Vogt, Julie; Wermenbol, Vanessa; Whitehouse, William P; Soler, Doriette; Olivieri, Ivana; Orcesi, Simona; Aglan, Mona S; Zaki, Maha S; Abdel-Salam, Ghada M H; Vanderver, Adeline; Kisand, Kai; Rozenberg, Flore; Lebon, Pierre; Crow, Yanick J

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms

新的惊厥症突变为甘氨酸受体的组装、转运和激活机制提供了新的见解

Bode, Anna; Wood, Sian-Elin; Mullins, Jonathan G L; Keramidas, Angelo; Cushion, Thomas D; Thomas, Rhys H; Pickrell, William O; Drew, Cheney J G; Masri, Amira; Jones, Elizabeth A; Vassallo, Grace; Born, Alfred P; Alehan, Fusun; Aharoni, Sharon; Bannasch, Gerald; Bartsch, Marius; Kara, Bulent; Krause, Amanda; Karam, Elie G; Matta, Stephanie; Jain, Vivek; Mandel, Hanna; Freilinger, Michael; Graham, Gail E; Hobson, Emma; Chatfield, Sue; Vincent-Delorme, Catherine; Rahme, Jubran E; Afawi, Zaid; Berkovic, Samuel F; Howell, Owain W; Vanbellinghen, Jean-François; Rees, Mark I; Chung, Seo-Kyung; Lynch, Joseph W