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

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

ELOVL1双等位基因变异与髓鞘形成不足性脑白质营养不良、运动障碍和鱼鳞病相关。

Wong, Keit Men; Maroofian, Reza; Meier, Kolja; Diegmann, Susann; Tkemaladze, Tinatin; Alvi, Javeria Raza; Tasharrofi, Behnoosh; Efthymiou, Stephanie; Munchau, Alexander; Korenke, G Christoph; Almontashiri, Naif; Eyaid, Wafaa; Kashgari, Amna; Alotaibi, Modhi; Gärtner, Jutta; Huppke, Brenda; Asadollahi, Mostafa; Chikvinidze, Gocha; Keramatipour, Mohammad; Sultan, Tipu; Thiele, Holger; Nürnberg, Peter; Gräler, Markus H; Houlden, Henry; Huppke, Peter

Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

全基因组关联研究揭示吉尔·德·拉·图雷特综合征的新基因位点

Tsetsos, Fotis; Topaloudi, Apostolia; Jain, Pritesh; Yang, Zhiyu; Yu, Dongmei; Kolovos, Petros; Tumer, Zeynep; Rizzo, Renata; Hartmann, Andreas; Depienne, Christel; Worbe, Yulia; Müller-Vahl, Kirsten R; Cath, Danielle C; Boomsma, Dorret I; Wolanczyk, Tomasz; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Padmanabhuni, Shanmukha S; Buxbaum, Joseph D; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Yannaki, Evangelia; Stamatoyannopoulos, John A; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Mir, Pablo; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J; Porcelli, Cesare; Roessner, Veit; Walitza, Susanne; Schrag, Anette; Martino, Davide; Tischfield, Jay A; Heiman, Gary A; Willsey, A Jeremy; Dietrich, Andrea; Davis, Lea K; Crowley, James J; Mathews, Carol A; Scharf, Jeremiah M; Georgitsi, Marianthi; Hoekstra, Pieter J; Paschou, Peristera

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

基于多基因风险评分的全表型关联研究发现了图雷特综合征的新关联。

Jain, Pritesh; Miller-Fleming, Tyne; Topaloudi, Apostolia; Yu, Dongmei; Drineas, Petros; Georgitsi, Marianthi; Yang, Zhiyu; Rizzo, Renata; Müller-Vahl, Kirsten R; Tumer, Zeynep; Mol Debes, Nanette; Hartmann, Andreas; Depienne, Christel; Worbe, Yulia; Mir, Pablo; Cath, Danielle C; Boomsma, Dorret I; Roessner, Veit; Wolanczyk, Tomasz; Janik, Piotr; Szejko, Natalia; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Buxbaum, Joseph D; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J; Porcelli, Cesare; Walitza, Susanne; Schrag, Anette; Martino, Davide; Dietrich, Andrea; Mathews, Carol A; Scharf, Jeremiah M; Hoekstra, Pieter J; Davis, Lea K; Paschou, Peristera

Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics

针对运动障碍青少年患者的过渡期护理:MDS儿科工作组的共识性建议

Pringsheim, Tamara; Batla, Amit; Shalash, Ali; Sahu, Jitendra Kumar; Cosentino, Carlos; Ebrahimi-Fakhari, Darius; Friedman, Jennifer; Lin, Jean-Pierre; Mink, Jonathan; Munchau, Alexander; Munoz, Daniela; Nardocci, Nardo; Perez-Dueñas, Belen; Sardar, Zomer; Triki, Chahnez; Ben-Pazi, Hilla; Silveira-Moriyama, Laura; Troncoso-Schifferli, Monica; Hoshino, Kyoko; Dale, Russell C; Fung, Victor S C; Kurian, Manju A; Roze, Emmanuel

Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration

通过荟萃分析增强图雷特综合征的神经影像遗传学(ENIGMA-TS):一个全球合作平台

Paschou, Peristera; Jin, Yin; Müller-Vahl, Kirsten; Möller, Harald E; Rizzo, Renata; Hoekstra, Pieter J; Roessner, Veit; Mol Debes, Nanette; Worbe, Yulia; Hartmann, Andreas; Mir, Pablo; Cath, Danielle; Neuner, Irene; Eichele, Heike; Zhang, Chencheng; Lewandowska, Katarzyna; Munchau, Alexander; Verrel, Julius; Musil, Richard; Silk, Tim J; Hanlon, Colleen A; Bihun, Emily D; Brandt, Valerie; Dietrich, Andrea; Forde, Natalie; Ganos, Christos; Greene, Deanna J; Chu, Chunguang; Grothe, Michel J; Hershey, Tamara; Janik, Piotr; Koller, Jonathan M; Martin-Rodriguez, Juan Francisco; Müller, Karsten; Palmucci, Stefano; Prato, Adriana; Ramkiran, Shukti; Saia, Federica; Szejko, Natalia; Torrecuso, Renzo; Tumer, Zeynep; Uhlmann, Anne; Veselinovic, Tanja; Wolańczyk, Tomasz; Zouki, Jade-Jocelyne; Jain, Pritesh; Topaloudi, Apostolia; Kaka, Mary; Yang, Zhiyu; Drineas, Petros; Thomopoulos, Sophia I; White, Tonya; Veltman, Dick J; Schmaal, Lianne; Stein, Dan J; Buitelaar, Jan; Franke, Barbara; van den Heuvel, Odile; Jahanshad, Neda; Thompson, Paul M; Black, Kevin J

Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study

A组链球菌暴露与慢性抽动症加重的相关性:一项多国前瞻性队列研究

Martino, Davide; Schrag, Anette; Anastasiou, Zacharias; Apter, Alan; Benaroya-Milstein, Noa; Buttiglione, Maura; Cardona, Francesco; Creti, Roberta; Efstratiou, Androulla; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Madruga, Marcos; Mir, Pablo; Morer, Astrid; Mol Debes, Nanette; Moll, Natalie; Müller, Norbert; Müller-Vahl, Kirsten; Munchau, Alexander; Nagy, Peter; Plessen, Kerstin Jessica; Porcelli, Cesare; Rizzo, Renata; Roessner, Veit; Schnell, Jaana; Schwarz, Markus; Skov, Liselotte; Steinberg, Tamar; Tarnok, Zsanett; Walitza, Susanne; Dietrich, Andrea; Hoekstra, Pieter J

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1基因的双等位基因变异会导致智力障碍、痉挛性肌张力障碍性脑瘫、癫痫和听力丧失。

Richard, Elodie M; Bakhtiari, Somayeh; Marsh, Ashley P L; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M; Guida, Brandon S; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y; Webster, Richard I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementina; Mancini, Cecilia; Claps Sepulveda, Dianela Judith; McWalter, Kirsty; Begtrup, Amber; Crunk, Amy; Guillen Sacoto, Maria J; Person, Richard; Schnur, Rhonda E; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K; Marks, Warren A; van Eyk, Clare L; Webber, Dani L; Corbett, Mark A; Harper, Kelly; Berry, Jesia G; MacLennan, Alastair H; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M; Hufnagel, Robert B; Fahey, Michael C; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M; Rad, Aboulfazl; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C

Treatable inherited rare movement disorders

可治疗的遗传性罕见运动障碍

Jinnah, H A; Albanese, Alberto; Bhatia, Kailash P; Cardoso, Francisco; Da Prat, Gustavo; de Koning, Tom J; Espay, Alberto J; Fung, Victor; Garcia-Ruiz, Pedro J; Gershanik, Oscar; Jankovic, Joseph; Kaji, Ryuji; Kotschet, Katya; Marras, Connie; Miyasaki, Janis M; Morgante, Francesca; Munchau, Alexander; Pal, Pramod Kumar; Rodriguez Oroz, Maria C; Rodríguez-Violante, Mayela; Schöls, Ludger; Stamelou, Maria; Tijssen, Marina; Uribe Roca, Claudia; de la Cerda, Andres; Gatto, Emilia M

Systematic review of severity scales and screening instruments for tics: Critique and recommendations

对抽动症严重程度量表和筛查工具的系统评价:评论和建议

Martino, Davide; Pringsheim, Tamara M; Cavanna, Andrea E; Colosimo, Carlo; Hartmann, Andreas; Leckman, James F; Luo, Sheng; Munchau, Alexander; Goetz, Christopher G; Stebbins, Glenn T; Martinez-Martin, Pablo

European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment

欧洲图雷特综合征及其他抽动障碍临床指南。第一部分:评估

Cath, Danielle C; Hedderly, Tammy; Ludolph, Andrea G; Stern, Jeremy S; Murphy, Tara; Hartmann, Andreas; Czernecki, Virginie; Robertson, Mary May; Martino, Davide; Munchau, A; Rizzo, R