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收藏分享 收藏 分享 收藏 Peripheral immune profiling highlights a dynamic role of low-density granulocytes in myasthenia gravis外周免疫分析凸显了低密度中性粒细胞在重症肌无力中的动态作用
Zhang, Shu; Wen, Qi; Su, Shengyao; Wang, Yaye; Wang, Jingsi; Xie, Nairong; Zhu, Wenjia; Wen, Xinmei; Di, Li; Lu, Yan; Xu, Min; Wang, Min; Chen, Hai; Duo, Jianying; Huang, Yue; Wan, Dongshan; Tao, Zhen; Zhao, Shufang; Chai, Guoliang; Hao, Junwei 分享 收藏 Novel Meningoencephalomyelitis Associated With Vimentin IgG Autoantibodies新型与Vimentin IgG自身抗体相关的脑膜炎脑脊髓炎Wan, Dongshan; Zhao, Shufang; Zhang, Chen; Xu, Fang; Wang, Huizi; Tao, Shaoxin; Qiu, Zhandong; Jiang, Hao; Li, Dawei; Wang, Fei; Li, Dong; Chen, Jiahao; Wang, Yan; Yan, Yao; Zhao, Yan; Gao, Xiaohan; Jin, Bingxue; Liu, Di; Zhang, Mengyao; Feng, Jingjing; Hou, Shiyue; Wang, Mingyang; Chen, Teng; Lin, Ming; Han, Jinming; Wen, Xinmei; Jiang, Wei; Liu, Liang; Long, Youming; Zhao, Yinan; Kira, Jun-Ichi; Liu, Zheng; Chai, Guoliang; Hao, Junwei 分享 收藏 Translatome analysis in acute ischemic stroke: Astrocytes and microglia exhibit differences in poststroke alternative splicing of expressed transcriptsJin, Bingxue; Han, Yilai; Xu, Fang; Wang, Junjie; Zhao, Yunzhi; Liu, Haijie; Wang, Fei; Wang, Ze; Lu, Wanting; Wang, Mingyang; Cui, Lili; Zhao, Yinan; Hao, Junwei; Chai, Guoliang 分享 收藏 Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathyHan, Yilai; Han, Jinming; Li, Zhen; Chen, Siqi; Liu, Ju; Zhou, Ruxing; Zhao, Shufang; Li, Dawei; Liu, Zheng; Zhao, Yinan; Hao, Junwei; Chai, Guoliang 分享 收藏 Integrative multi-omics analysis identifies genetically supported druggable targets and immune cell specificity for myasthenia gravisLi, Jiao; Wang, Fei; Li, Zhen; Feng, Jingjing; Men, Yi; Han, Jinming; Xia, Jiangwei; Zhang, Chen; Han, Yilai; Chen, Teng; Zhao, Yinan; Zhou, Sirui; Da, Yuwei; Chai, Guoliang; Hao, Junwei 分享 收藏 Microglia/macrophages require vitamin D signaling to restrain neuroinflammation and brain injury in a murine ischemic stroke modelCui, Pan; Lu, Wanting; Wang, Junjie; Wang, Fei; Zhang, Xiyue; Hou, Xiaodan; Xu, Fang; Liang, Yan; Chai, Guoliang; Hao, Junwei 分享 收藏 Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmuller, Janine; Weixler, Lisa; Nurnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G. 分享 收藏 Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardationvon Elsner, Leonie; Chai, Guoliang; Schneeberger, Pauline E.; Harms, Frederike L.; Casar, Christian; Qi, Minyue; Alawi, Malik; Abdel-Salam, Ghada M. H.; Zaki, Maha S.; Arndt, Florian; Yang, Xiaoxu; Stanley, Valentina; Hempel, Maja; Gleeson, Joseph G.; Kutsche, Kerstin 分享 收藏 A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionChai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina; Anzenberg, Paula; Lang, Nhi; Wazny, Vanessa; Yu, Jia; Virshup, David M.; Nygaard, Rie; Mancia, Filippo; Merdzanic, Rijad; Toralles, Maria B. P.; Pitanga, Paula M. L.; Puri, Ratna D.; Hernan, Rebecca; Chung, Wendy K.; Bertoli-Avella, Aida M.; Al-Sannaa, Nouriya; Zaki, Maha S.; Willert, Karl; Reversade, Bruno; Gleeson, Joseph G. 分享 收藏 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyWong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Ly, Thanh Thao Nguyen; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Isikay, Sedat; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (vol 108, pg 1301, 2021)Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O.; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Thanh Thao Nguyen Ly; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S.; Isfort, Robert J.; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C.; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Ikay, Sedat Is Comma; Gleeson, Joseph G.; Lupski, James R.; Casanova, Jean-Laurent; Pagliarini, David J.; Akarsu, Nurten A.; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S.; Ho, Lena; Bard, Frederic A.; Reversade, Bruno 分享 收藏 Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasiaGhosh, Shereen G.; Breuss, Martin W.; Schlachetzki, Zinayida; Chai, Guoliang; Ross, Danica; Stanley, Valentina; Sonmez, F. Mujgan; Topaloglu, Haluk; Zaki, Maha S.; Hosny, Heba; Gad, Shaimaa; Gleeson, Joseph G. 分享 收藏 Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionHPDL中的双等位基因变体，编码4-羟基苯丙酮酸双加氧酶样蛋白，导致婴儿神经退行性疾病Ghosh, Shereen G.; Lee, Sangmoon; Fabunan, Rudy; Chai, Guoliang; Zaki, Maha S.; Abdel-Salam, Ghada; Sultan, Tipu; Ben-Omran, Tawfeg; Alvi, Javeria Raza; McEvoy-Venneri, Jennifer; Stanley, Valentina; Patel, Aakash; Ross, Danica; Ding, Jeffrey; Jain, Mohit; Pan, Daqiang; Luebbert, Philipp; Kammerer, Bernd; Wiedemann, Nils; Verhoeven-Duif, Nanda M.; Jans, Judith J.; Murphy, David; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Ibrahim, Khalid; Waters, Elizabeth R.; Maroofian, Reza; Gleeson, Joseph G. 分享 收藏 Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyChai, Guoliang; Webb, Alice; Li, Chen; Antaki, Danny; Lee, Sangmoon; Breuss, Martin W.; Lang, Nhi; Stanley, Valentina; Anzenberg, Paula; Yang, Xiaoxu; Marshall, Trevor; Gaffney, Patrick; Wierenga, Klaas J.; Chung, Brian Hon-Yin; Tsang, Mandy Ho-Yin; Pais, Lynn S.; Lovgren, Alysia Kern; VanNoy, Grace E.; Rehm, Heidi L.; Mirzaa, Ghayda; Leon, Eyby; Diaz, Jullianne; Neumann, Alexander; Kalverda, Arnout P.; Manfield, Iain W.; Parry, David A.; Logan, Clare, V; Johnson, Colin A.; Bonthron, David T.; Valleley, Elizabeth M. A.; Issa, Mahmoud Y.; Abdel-Ghafar, Sherif F.; Abdel-Hamid, Mohamed S.; Jennings, Patricia; Zaki, Maha S.; Sheridan, Eamonn; Gleeson, Joseph G. 分享 收藏 分享 收藏 Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)Ghosh, Shereen G.; Becker, Kerstin; Huang, He; Dixon-Salazar, Tracy; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G. 分享 收藏 Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeGhosh, Shereen G.; Becker, Kerstin; Huang, He; Salazar, Tracy D.; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K.; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M.; Efthymiou, Stephanie; Hanna, Michael G.; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmueller, Janine; Nuernberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B.; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M.; Wolf, Nicole I.; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G. 分享 收藏 
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