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

Distinct tau filament folds in human MAPT mutants P301L and P301T

人类MAPT突变体P301L和P301T中tau蛋白丝的独特折叠

Schweighauser, Manuel; Shi, Yang; Murzin, Alexey G; Garringer, Holly J; Vidal, Ruben; Murrell, Jill R; Erro, M Elena; Seelaar, Harro; Ferrer, Isidro; van Swieten, John C; Ghetti, Bernardino; Scheres, Sjors H W; Goedert, Michel

Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W

人类 MAPT 突变体 V337M 和 R406W 中具有阿尔茨海默病折叠的 Tau 丝

Qi, Chao; Lövestam, Sofia; Murzin, Alexey G; Peak-Chew, Sew; Franco, Catarina; Bogdani, Marika; Latimer, Caitlin; Murrell, Jill R; Cullinane, Patrick W; Jaunmuktane, Zane; Bird, Thomas D; Ghetti, Bernardino; Scheres, Sjors H W; Goedert, Michel

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

PSMD11功能缺失变异与神经行为表型、肥胖和干扰素反应增强相关

Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Möller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogné, Benjamin; Besnard, Thomas; Ruffier, Léa; Toutain, Bérénice; Poirier, Léa; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M; Zuurbier, Linda; Sulem, Telma; Katrínardóttir, Hildigunnur; Friðriksdóttir, Rún; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P A; Naveh, Natali; Skraban, Cara M; Gray, Christopher; Murrell, Jill R; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G; Posey, Jennifer E; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R; Isidor, Bertrand; Bolduc, François V; Bézieau, Stéphane; Krüger, Elke; Küry, Sébastien; Ebstein, Frédéric

In Memoriam: Dr. James B. Appel

谨此缅怀:詹姆斯·B·阿佩尔博士

Kovacs, Gabor G; Murrell, Jill R; Horvath, Sandor; Haraszti, Laszlo; Majtenyi, Katalin; Molnar, Maria J; Budka, Herbert; Ghetti, Bernardino; Spina, Salvatore; Dykstra, Linda; Cunningham, Kathryn

Tau filaments with the Alzheimer fold in cases with MAPT mutations V337M and R406W

在MAPT基因V337M和R406W突变病例中,tau蛋白丝具有阿尔茨海默病折叠特征。

Qi, Chao; Lövestam, Sofia; Murzin, Alexey G; Peak-Chew, Sew; Franco, Catarina; Bogdani, Marika; Latimer, Caitlin; Murrell, Jill R; Cullinane, Patrick W; Jaunmuktane, Zane; Bird, Thomas D; Ghetti, Bernardino; Scheres, Sjors H W; Goedert, Michel

Mutation ∆K281 in MAPT causes Pick's disease

MAPT基因中的∆K281突变会导致皮克氏病。

Schweighauser, Manuel; Garringer, Holly J; Klingstedt, Therése; Nilsson, K Peter R; Masuda-Suzukake, Masami; Murrell, Jill R; Risacher, Shannon L; Vidal, Ruben; Scheres, Sjors H W; Goedert, Michel; Ghetti, Bernardino; Newell, Kathy L

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions

单等位基因POU3F2基因内变异会导致神经发育迟缓和过度摄食性肥胖,证实了该基因在6q16.1缺失中的作用。

Schönauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C; Pöschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M; Münch, Johannes; Heyne, Henrike; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noé, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J; Neatu, Ruxandra; Le Guyader, Gwenael; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; Fourgeaud, Melanie; Michaud, Vincent; Lacombe, Didier; Paolucci, Sarah A; Buchan, Jillian G; Glissmeyer, Margaret; Popp, Bernt; Blüher, Matthias; Sayer, John A; Halbritter, Jan

Expanding the phenotypic spectrum of ARCN1-related syndrome

扩展ARCN1相关综合征的表型谱

Ritter, Alyssa L; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amélie; Ohl, Jeanine; Kukolich, Mary K; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R; Sullivan, Jennifer A; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C; Izumi, Kosuke

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

700 例临床外显子组测序的分子诊断结果:我们能从回顾性分析中学到什么?

Murrell, Jill R; Nesbitt, Addie May I; Baker, Samuel W; Pechter, Kieran B; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H; DeChene, Elizabeth T; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D; Dulik, Matthew C; Conlin, Laura K; Luo, Minjie; McDonald Gibson, Kristin; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H; Bedoukian, Emma C; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M; Deardorff, Matthew A; Medne, Livija; Krantz, Ian D; Krock, Bryan L; Santani, Avni B