未登录 International consensus definitions for infection-triggered encephalopathy syndromes Sakuma, Hiroshi; Thomas, Terrence; Debinski, Carly; Eyre, Michael; Han, Velda X.; Jones, Hannah F.; Kawano, Go; Lee, Vanessa W.; Malone, Stephen; Matsuishi, Toyojiro; Mohammad, Shekeeb S.; Mori, Takayuki; Nishida, Hiroya; Nosadini, Margherita; Takanashi, Jun-ichi; Mizuguchi, Masashi; Lim, Ming; Dale, Russell C. 分享 收藏
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariette J. V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stuelpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo 分享 收藏
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes CSF新蝶呤和喹啉酸是火灾和其他感染触发的脑病综合征中神经炎症和神经毒性的生物标志物 Dale, Russell C.; Thomas, Terrence; Patel, Shrujna; Han, Velda X.; Kothur, Kavitha; Troedson, Christopher; Gupta, Sachin; Gill, Deepak; Malone, Stephen; Waak, Michaela; Calvert, Sophie; Subramanian, Gopinath; Andrews, P. Ian; Kandula, Tejaswi; Menezes, Manoj P.; Ardern-Holmes, Simone; Mohammad, Shekeeb; Bandodkar, Sushil; Yan, Jingya 分享 收藏
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Shimada, Shino; Ng, Bobby G.; White, Amy L.; Nickander, Kim K.; Turgeon, Coleman; Liedtke, Kristen L.; Lam, Christina T.; Font-Montgomery, Esperanza; Lourenco, Charles M.; He, Miao; Peck, Dawn S.; Umana, Luis A.; Uhles, Crescenda L.; Haynes, Devon; Wheeler, Patricia G.; Bamshad, Michael J.; Nickerson, Deborah A.; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M.; Scalco, Fernanda B.; Martinez, Noelia N.; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah, V; Scheffer, Ingrid E.; Rosenzweig, Sergio D.; Adams, David R.; Gahl, William A.; Malicdan, May Christine, V; Raymond, Kimiyo M.; Freeze, Hudson H.; Wolfe, Lynne A. 分享 收藏
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain (vol 3, fcaa235, 2021) Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A.; McQuillan, Lara; Harvey, A. Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J.; Dobrovic, Alexander; Scheffer, Ingrid E.; Bahlo, Melanie; Leventer, Richard J.; Lister, Ryan; Berkovic, Samuel F.; Hildebrand, Michael S. 分享 收藏
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A.; McQuillan, Lara; Harvey, Anthony Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J.; Dobrovic, Alexander; Scheffer, Ingrid E.; Bahlo, Melanie; Leventer, Richard J.; Lister, Ryan; Berkovic, Samuel F.; Hildebrand, Michael S. 分享 收藏
Acute Hemorrhagic Leukoencephalopathy: Pathological Features and Cerebrospinal Fluid Cytokine Profiles Waak, Michaela; Malone, Stephen; Sinclair, Kate; Phillips, Gael; Bandodkar, Sushil; Wienholt, Louise; Robertson, Thomas; Whitehead, Ben; Trnka, Peter; Kothur, Kavitha; Dale, Russel C. 分享 收藏
SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy Vlaskamp, Danique R. M.; Shaw, Benjamin J.; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T.; Bennett, Mark F.; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M.; Brooks, Alice S.; Mancini, Grazia M. S.; van de Laar, Ingrid M. B. H.; van Hagen, Johanna M.; Ware, Tyson L.; Webster, Richard I.; Malone, Stephen; Berkovic, Samuel F.; Kalnins, Renate M.; Sicca, Federico; Korenke, G. Christoph; van Ravenswaaij-Arts, Conny M. A.; Hildebrand, Michael S.; Mefford, Heather C.; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E. 分享 收藏
分享 收藏
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome Hildebrand, Michael S.; Harvey, A. Simon; Malone, Stephen; Damiano, John A.; Do, Hongdo; Ye, Zimeng; McQuillan, Lara; Maixner, Wirginia; Kalnins, Renate; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C.; Gillies, Greta; Pope, Kate; Lockhart, Paul J.; Dobrovic, Alexander; Leventer, Richard J.; Scheffer, Ingrid E.; Berkovic, Samuel F. 分享 收藏
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45 自噬基因WDR45突变引起的严重婴儿期发育性和癫痫性脑病 Carvill, Gemma L.; Liu, Aijie; Mandelstam, Simone; Schneider, Amy; Lacroix, Amy; Zemel, Matthew; McMahon, Jacinta M.; Bello-Espinosa, Luis; Mackay, Mark; Wallace, Geoffrey; Waak, Michaela; Zhang, Jing; Yang, Xiaoling; Malone, Stephen; Zhang, Yue-Hua; Mefford, Heather C.; Scheffer, Ingrid E. 分享 收藏
Rasmussen encephalitis tissue transfer program Kruse, Carol A.; Pardo, Carlos A.; Hartman, Adam L.; Jallo, George; Vining, Eileen P. G.; Voros, Joe; Gaillard, William D.; Liu, Judy; Oluigbo, Chima; Malone, Stephen; Bleasel, Andrew F.; Dexter, Mark; Micati, Alex; Velasco, Tonicarlo R.; Machado, Helio R.; Martino, Anthony M.; Huang, Adam; Wheatley, B. M.; Grant, Gerald A.; Granata, Tiziana; Freri, Elena; Garbelli, Rita; Koh, Sookyong; Nordli, Douglas R.; Campos, Alexandre R.; O'Neill, Brent; Handler, Michael H.; Chapman, Kevin E.; Wilfong, Angus A.; Curry, Daniel J.; Yaun, Amanda; Madsen, Joseph R.; Smyth, Matthew D.; Mercer, Deanna; Bingaman, William; Harvey, A. S.; Leventer, Richard J.; Lockhart, Paul J.; Gillies, Greta; Pope, Kate; Giller, Cole A.; Park, Yong D.; Rojiani, Amyn M.; Sharma, Suash J.; Jenkins, Patrick; Tung, Spencer; Huynh, My N.; Chirwa, Thabiso W.; Cepeda, Carlos; Levine, Michael S.; Chang, Julia W.; Owens, Geoffrey C.; Vinters, Harry V.; Mathern, Gary W. 分享 收藏
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy 癫痫突然意外死亡中罕见有害变异的全基因组多基因负担 Leu, Costin; Balestrini, Simona; Maher, Bridget; Hernandez-Hernandez, Laura; Gormley, Padhraig; Hamalainen, Eija; Heggeli, Kristin; Schoeler, Natasha; Novy, Jan; Willis, Joseph; Plagnol, Vincent; Ellis, Rachael; Reavey, Eleanor; O'Regan, Mary; Pickrell, William O.; Thomas, Rhys H.; Chung, Seo-Kyung; Delanty, Norman; McMahon, Jacinta M.; Malone, Stephen; Sadleir, Lynette G.; Berkovic, Samuel F.; Nashef, Lina; Zuberi, Sameer M.; Rees, Mark I.; Cavalleri, Gianpiero L.; Sander, Josemir W.; Hughes, Elaine; Cross, J. Helen; Scheffer, Ingrid E.; Palotie, Aarno; Sisodiya, Sanjay M. 分享 收藏
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome Grinton, Bronwyn E.; Heron, Sarah E.; Pelekanos, James T.; Zuberi, Sameer M.; Kivity, Sara; Afawi, Zaid; Williams, Tristiana C.; Casalaz, Dan M.; Yendle, Simone; Linder, Ilan; Lev, Dorit; Lerman-Sagie, Tally; Malone, Stephen; Bassan, Haim; Goldberg-Stern, Hadassa; Stanley, Thorsten; Hayman, Michael; Calvert, Sophie; Korczyn, Amos D.; Shevell, Michael; Scheffer, Ingrid E.; Mulley, John C.; Berkovic, Samuel F. 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
