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

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

对患有 X 连锁肌酸转运蛋白缺乏症的男性进行纵向特征分析:一项多年观察性研究的最终结果

Miller, Judith S; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A; Becker, Lindsey; Bennett, Amanda E; Berry, Leandra N; Berry-Kravis, Elizabeth M; Bruchey, Aleksandra; Byars, Anna W; Cimms, Tricia; Cecil, Kim M; Covello, Maxine; Cubit, Laura S; Das, Tanvi; Davis, Robert J; Drye, Madison; Ficicioglu, Can; Fulton, John B; Goin-Kochel, Robin P; Guthrie, Whitney; Hallinan, Barbara E; Hannah-Shmouni, Fady; Gustafson, Kathryn E; Koeberl, Dwight D; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A; Stone, Caitlin; Sullivan, Nancy R; Sutton, V Reid; Thomas, Rebecca P; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey

Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

琥珀酸脱氢酶缺乏症患者的癫痫表型和脑电图表现为节律性高振幅δ波伴叠加尖峰(RHADS)

Bowen, Aaron B; Nwanze, Chiadika; Alves, Cesar; Rodan, Lance; Pinto, Anna Lecticia; Walker, Melissa A; Anselm, Irina; Pearl, Phillip L

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder

NDUFS8相关疾病的临床和神经影像学谱系扩展

Andzelm, Milena M; Balasubramaniam, Shanti; Yang, Edward; Compton, Alison G; Millington, Kate; Zhu, Jia; Anselm, Irina; Rodan, Lance H; Thorburn, David R; Christodoulou, John; Srivastava, Siddharth

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

HNRNP基因的罕见有害突变会导致共同的神经发育障碍

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

利用壳核基因疗法治疗AADC缺乏症和帕金森病

Hwu, Paul Wuh-Liang; Kiening, Karl; Anselm, Irina; Compton, David R; Nakajima, Takeshi; Opladen, Thomas; Pearl, Phillip L; Roubertie, Agathe; Roujeau, Thomas; Muramatsu, Shin-Ichi

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

MORC2 ATPase 模块的新生突变导致神经发育障碍,伴有生长迟缓和不同程度的颅面畸形

Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A 2nd; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

在神经发育障碍研究中,以个人能力评分替代常模参照评分作为结果指标

Farmer, Cristan A; Kaat, Aaron J; Thurm, Audrey; Anselm, Irina; Akshoomoff, Natacha; Bennett, Amanda; Berry, Leandra; Bruchey, Aleksandra; Barshop, Bruce A; Berry-Kravis, Elizabeth; Bianconi, Simona; Cecil, Kim M; Davis, Robert J; Ficicioglu, Can; Porter, Forbes D; Wainer, Allison; Goin-Kochel, Robin P; Leonczyk, Caroline; Guthrie, Whitney; Koeberl, Dwight; Love-Nichols, Jamie; Mamak, Eva; Mercimek-Andrews, Saadet; Thomas, Rebecca P; Spiridigliozzi, Gail A; Sullivan, Nancy; Sutton, Vernon R; Udhnani, Manisha D; Waisbren, Susan E; Miller, Judith S

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

与GNAO1鸟苷三磷酸结合区相关的神经发育疾病谱

Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Pérez-Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C; High, Frances A; Sweetser, David A; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E; Yang, Edward; Waugh, Jeff L; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

一项针对患有安格曼综合征的同卵双胞胎的叶酸和甜菜碱安慰剂对照试验

Han, Julia; Bichell, Terry Jo; Golden, Stephanie; Anselm, Irina; Waisbren, Susan; Bacino, Carlos A; Peters, Sarika U; Bird, Lynne M; Kimonis, Virginia