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

Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening

早期单倍体造血干细胞移植可使通过TREC新生儿筛查确诊的AK2患者快速重建白细胞和免疫系统

Cicek, Alphan; Schuster, Friedhelm R; Boyle, Janel O; Hoenig, Manfred; Meisel, Roland; Ghosh, Sujal

Study of Rivaroxaban for Cerebral Venous Thrombosis: A Randomized Controlled Feasibility Trial Comparing Anticoagulation With Rivaroxaban to Standard-of-Care in Symptomatic Cerebral Venous Thrombosis

利伐沙班治疗脑静脉血栓的研究:一项比较利伐沙班抗凝治疗与标准治疗在症状性脑静脉血栓患者中疗效的随机对照可行性试验

Field, Thalia S; Dizonno, Vanessa; Almekhlafi, Mohammed A; Bala, Fouzi; Alhabli, Ibrahim; Wong, Hubert; Norena, Monica; Villaluna, Maria Karina; King-Azote, Princess; Ratnaweera, Namali; Mancini, Steven; Van Gaal, Stephen C; Wilson, Laura K; Graham, Brett R; Sposato, Luciano A; Blacquiere, Dylan; Dewar, Brian M; Boulos, Mark I; Buck, Brian H; Odier, Celine; Perera, Kanjana S; Pikula, Aleksandra; Tkach, Aleksander; Medvedev, George; Canfield, Carolyn; Mortenson, W Ben; Nadeau, Janel O; Alshimemeri, Sohaila; Benavente, Oscar R; Demchuk, Andrew M; Dowlatshahi, Dar; Lanthier, Sylvain; Lee, Agnes Y Y; Mandzia, Jennifer; Suryanarayan, Deepa; Weitz, Jeffrey I; Hill, Michael D

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

SPTLC1基因变异与青少年肌萎缩侧索硬化症的关联

Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Sabir, Marya S; Dalgard, Clifton L; Troakes, Claire; Jones, Ashley R; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Ticozzi, Nicola; Silani, Vincenzo; Gellera, Cinzia; Blair, Ian P; Dobson-Stone, Carol; Kwok, John B; Bonkowski, Emily S; Palvadeau, Robin; Tienari, Pentti J; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Brown, Robert H Jr; Calvo, Andrea; Mora, Gabriele; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Shaw, Christopher E; Basak, A Nazli; Landers, John E; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Traynor, Bryan J; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D; Scotter, Emma L; Kenna, Kevin P; Keagle, Pamela; Tiloca, Cinzia; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; King, Andrew; Pensato, Viviana; Castellotti, Barbara; Baas, Frank; Ten Asbroek, Anneloor L M A; McKenna-Yasek, Diane; McLaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Stevic, Zorica; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Rademakers, Rosa; van Blitterswijk, Marka; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Leblond-Manry, Claire; Rouleau, Guy A; Hardiman, Orla; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Al-Chalabi, Ammar; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; García-Redondo, Alberto; Wu, Zheyang; Glass, Jonathan D; Gellera, Cinzia; Ratti, Antonia; Brown, Robert H Jr; Silani, Vincenzo; Shaw, Christopher E; Landers, John E; Dalgard, Clifton L; Adeleye, Adelani; Soltis, Anthony R; Alba, Camille; Viollet, Coralie; Bacikova, Dagmar; Hupalo, Daniel N; Sukumar, Gauthaman; Pollard, Harvey B; Wilkerson, Matthew D; Martinez, Elisa McGrath; Abramzon, Yevgeniya; Ahmed, Sarah; Arepalli, Sampath; Baloh, Robert H; Bowser, Robert; Brady, Christopher B; Brice, Alexis; Broach, James; Campbell, Roy H; Camu, William; Chia, Ruth; Cooper-Knock, John; Ding, Jinhui; Drepper, Carsten; Drory, Vivian E; Dunckley, Travis L; Eicher, John D; England, Bryce K; Faghri, Faraz; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Geiger, Joshua T; Gerhard, Glenn; Gibbs, J Raphael; Gibson, Summer B; Glass, Jonathan D; Hardy, John; Harms, Matthew B; Heiman-Patterson, Terry D; Hernandez, Dena G; Jansson, Lilja; Kirby, Janine; Kowall, Neil W; Laaksovirta, Hannu; Landeck, Natalie; Landi, Francesco; Le Ber, Isabelle; Lumbroso, Serge; MacGowan, Daniel J L; Maragakis, Nicholas J; Mora, Gabriele; Mouzat, Kevin; Murphy, Natalie A; Myllykangas, Liisa; Nalls, Mike A; Orrell, Richard W; Ostrow, Lyle W; Pamphlett, Roger; Pickering-Brown, Stuart; Pioro, Erik P; Pletnikova, Olga; Pliner, Hannah A; Pulst, Stefan M; Ravits, John M; Renton, Alan E; Rivera, Alberto; Robberecht, Wim; Rogaeva, Ekaterina; Rollinson, Sara; Rothstein, Jeffrey D; Scholz, Sonja W; Sendtner, Michael; Shaw, Pamela J; Sidle, Katie C; Simmons, Zachary; Singleton, Andrew B; Smith, Nathan; Stone, David J; Tienari, Pentti J; Troncoso, Juan C; Valori, Miko; Van Damme, Philip; Van Deerlin, Vivianna M; Van Den Bosch, Ludo; Zinman, Lorne; Landers, John E; Chiò, Adriano; Traynor, Bryan J; Angelocola, Stefania M; Ausiello, Francesco P; Barberis, Marco; Bartolomei, Ilaria; Battistini, Stefania; Bersano, Enrica; Bisogni, Giulia; Borghero, Giuseppe; Brunetti, Maura; Cabona, Corrado; Calvo, Andrea; Canale, Fabrizio; Canosa, Antonio; Cantisani, Teresa A; Capasso, Margherita; Caponnetto, Claudia; Cardinali, Patrizio; Carrera, Paola; Casale, Federico; Chiò, Adriano; Colletti, Tiziana; Conforti, Francesca L; Conte, Amelia; Conti, Elisa; Corbo, Massimo; Cuccu, Stefania; Dalla Bella, Eleonora; D'Errico, Eustachio; DeMarco, Giovanni; Dubbioso, Raffaele; Ferrarese, Carlo; Ferraro, Pilar M; Filippi, Massimo; Fini, Nicola; Floris, Gianluca; Fuda, Giuseppe; Gallone, Salvatore; Gianferrari, Giulia; Giannini, Fabio; Grassano, Maurizio; Greco, Lucia; Iazzolino, Barbara; Introna, Alessandro; La Bella, Vincenzo; Lattante, Serena; Lauria, Giuseppe; Liguori, Rocco; Logroscino, Giancarlo; Logullo, Francesco O; Lunetta, Christian; Mandich, Paola; Mandrioli, Jessica; Manera, Umberto; Manganelli, Fiore; Marangi, Giuseppe; Marinou, Kalliopi; Marrosu, Maria Giovanna; Martinelli, Ilaria; Messina, Sonia; Moglia, Cristina; Mora, Gabriele; Mosca, Lorena; Murru, Maria R; Origone, Paola; Passaniti, Carla; Petrelli, Cristina; Petrucci, Antonio; Pozzi, Susanna; Pugliatti, Maura; Quattrini, Angelo; Ricci, Claudia; Riolo, Giulia; Riva, Nilo; Russo, Massimo; Sabatelli, Mario; Salamone, Paolina; Salivetto, Marco; Salvi, Fabrizio; Santarelli, Marialuisa; Sbaiz, Luca; Sideri, Riccardo; Simone, Isabella; Simonini, Cecilia; Spataro, Rossella; Tanel, Raffaella; Tedeschi, Gioacchino; Ticca, Anna; Torriello, Antonella; Tranquilli, Stefania; Tremolizzo, Lucio; Trojsi, Francesca; Vasta, Rosario; Vacchiano, Veria; Vita, Giuseppe; Volanti, Paolo; Zollino, Marcella; Zucchi, Elisabetta

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

ATP6V0A1 变异可导致进行性肌阵挛性癫痫以及发育性和癫痫性脑病

Laura C Bott, Mitra Forouhan, Maria Lieto, Ambre J Sala, Ruth Ellerington, Janel O Johnson, Alfina A Speciale, Chiara Criscuolo, Alessandro Filla, David Chitayat, Ebba Alkhunaizi, Patrick Shannon, Andrea H Nemeth; Italian Undiagnosed Diseases Network; Francesco Angelucci, Wooi Fang Lim, Pasquale Str

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Notch配体Jagged1的显性突变会导致周围神经病变

Sullivan, Jeremy M; Motley, William W; Johnson, Janel O; Aisenberg, William H; Marshall, Katherine L; Barwick, Katy Es; Kong, Lingling; Huh, Jennifer S; Saavedra-Rivera, Pamela C; McEntagart, Meriel M; Marion, Marie-Helene; Hicklin, Lucy A; Modarres, Hamid; Baple, Emma L; Farah, Mohamed H; Zuberi, Aamir R; Lutz, Cathleen M; Gaudet, Rachelle; Traynor, Bryan J; Crosby, Andrew H; Sumner, Charlotte J

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

全基因组分析鉴定出KIF5A是一种新的ALS基因

Nicolas, Aude; Kenna, Kevin P; Renton, Alan E; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A; Kenna, Brendan J; Nalls, Mike A; Keagle, Pamela; Rivera, Alberto M; van Rheenen, Wouter; Murphy, Natalie A; van Vugt, Joke J F A; Geiger, Joshua T; Van der Spek, Rick A; Pliner, Hannah A; Shankaracharya; Smith, Bradley N; Marangi, Giuseppe; Topp, Simon D; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D; Kenna, Aoife; Mora, Gabriele; Calvo, Andrea; Mazzini, Letizia; Riva, Nilo; Mandrioli, Jessica; Caponnetto, Claudia; Battistini, Stefania; Volanti, Paolo; La Bella, Vincenzo; Conforti, Francesca L; Borghero, Giuseppe; Messina, Sonia; Simone, Isabella L; Trojsi, Francesca; Salvi, Fabrizio; Logullo, Francesco O; D'Alfonso, Sandra; Corrado, Lucia; Capasso, Margherita; Ferrucci, Luigi; Moreno, Cristiane de Araujo Martins; Kamalakaran, Sitharthan; Goldstein, David B; Gitler, Aaron D; Harris, Tim; Myers, Richard M; Phatnani, Hemali; Musunuri, Rajeeva Lochan; Evani, Uday Shankar; Abhyankar, Avinash; Zody, Michael C; Kaye, Julia; Finkbeiner, Steven; Wyman, Stacia K; LeNail, Alex; Lima, Leandro; Fraenkel, Ernest; Svendsen, Clive N; Thompson, Leslie M; Van Eyk, Jennifer E; Berry, James D; Miller, Timothy M; Kolb, Stephen J; Cudkowicz, Merit; Baxi, Emily; Benatar, Michael; Taylor, J Paul; Rampersaud, Evadnie; Wu, Gang; Wuu, Joanne; Lauria, Giuseppe; Verde, Federico; Fogh, Isabella; Tiloca, Cinzia; Comi, Giacomo P; Sorarù, Gianni; Cereda, Cristina; Corcia, Philippe; Laaksovirta, Hannu; Myllykangas, Liisa; Jansson, Lilja; Valori, Miko; Ealing, John; Hamdalla, Hisham; Rollinson, Sara; Pickering-Brown, Stuart; Orrell, Richard W; Sidle, Katie C; Malaspina, Andrea; Hardy, John; Singleton, Andrew B; Johnson, Janel O; Arepalli, Sampath; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Al-Sarraj, Safa; King, Andrew; Troakes, Claire; Vance, Caroline; de Belleroche, Jacqueline; Baas, Frank; Ten Asbroek, Anneloor L M A; Muñoz-Blanco, José Luis; Hernandez, Dena G; Ding, Jinhui; Gibbs, J Raphael; Scholz, Sonja W; Floeter, Mary Kay; Campbell, Roy H; Landi, Francesco; Bowser, Robert; Pulst, Stefan M; Ravits, John M; MacGowan, Daniel J L; Kirby, Janine; Pioro, Erik P; Pamphlett, Roger; Broach, James; Gerhard, Glenn; Dunckley, Travis L; Brady, Christopher B; Kowall, Neil W; Troncoso, Juan C; Le Ber, Isabelle; Mouzat, Kevin; Lumbroso, Serge; Heiman-Patterson, Terry D; Kamel, Freya; Van Den Bosch, Ludo; Baloh, Robert H; Strom, Tim M; Meitinger, Thomas; Shatunov, Aleksey; Van Eijk, Kristel R; de Carvalho, Mamede; Kooyman, Maarten; Middelkoop, Bas; Moisse, Matthieu; McLaughlin, Russell L; Van Es, Michael A; Weber, Markus; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Morrison, Karen E; Basak, A Nazli; Mora, Jesús S; Drory, Vivian E; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Hardiman, Orla; Williams, Kelly L; Fifita, Jennifer A; Nicholson, Garth A; Blair, Ian P; Rouleau, Guy A; Esteban-Pérez, Jesús; García-Redondo, Alberto; Al-Chalabi, Ammar; Rogaeva, Ekaterina; Zinman, Lorne; Ostrow, Lyle W; Maragakis, Nicholas J; Rothstein, Jeffrey D; Simmons, Zachary; Cooper-Knock, Johnathan; Brice, Alexis; Goutman, Stephen A; Feldman, Eva L; Gibson, Summer B; Taroni, Franco; Ratti, Antonia; Gellera, Cinzia; Van Damme, Philip; Robberecht, Wim; Fratta, Pietro; Sabatelli, Mario; Lunetta, Christian; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Camu, William; Trojanowski, John Q; Van Deerlin, Vivianna M; Brown, Robert H Jr; van den Berg, Leonard H; Veldink, Jan H; Harms, Matthew B; Glass, Jonathan D; Stone, David J; Tienari, Pentti; Silani, Vincenzo; Chiò, Adriano; Shaw, Christopher E; Traynor, Bryan J; Landers, John E

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy

外显子组测序证实凝溶胶蛋白突变是遗传性延髓起病型神经病的原因。

Caress, James B; Johnson, Janel O; Abramzon, Yevgeniya A; Hawkins, Gregory A; Gibbs, J Raphael; Sullivan, Elizabeth A; Chahal, Chamanpreet S; Traynor, Bryan J

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

ATNX2并非意大利肌萎缩侧索硬化症患者(伴有C9ORF72 GGGGCC扩增)的调控基因。

Chiò, Adriano; Mora, Gabriele; Sabatelli, Mario; Caponnetto, Claudia; Lunetta, Christian; Traynor, Bryan J; Johnson, Janel O; Nalls, Mike A; Calvo, Andrea; Moglia, Cristina; Borghero, Giuseppe; Trojsi, Francesca; La Bella, Vincenzo; Volanti, Paolo; Simone, Isabella; Salvi, Fabrizio; Logullo, Francesco O; Riva, Nilo; Carrera, Paola; Giannini, Fabio; Mandrioli, Jessica; Tanel, Raffaella; Capasso, Margherita; Tremolizzo, Lucio; Battistini, Stefania; Murru, Maria Rita; Origone, Paola; Zollino, Marcella; Penco, Silvana; Mazzini, Letizia; D'Alfonso, Sandra; Restagno, Gabriella; Brunetti, Maura; Barberis, Marco; Conforti, Francesca L

A genome-wide association study of myasthenia gravis

重症肌无力的全基因组关联研究

Renton, Alan E; Pliner, Hannah A; Provenzano, Carlo; Evoli, Amelia; Ricciardi, Roberta; Nalls, Michael A; Marangi, Giuseppe; Abramzon, Yevgeniya; Arepalli, Sampath; Chong, Sean; Hernandez, Dena G; Johnson, Janel O; Bartoccioni, Emanuela; Scuderi, Flavia; Maestri, Michelangelo; Gibbs, J Raphael; Errichiello, Edoardo; Chiò, Adriano; Restagno, Gabriella; Sabatelli, Mario; Macek, Mark; Scholz, Sonja W; Corse, Andrea; Chaudhry, Vinay; Benatar, Michael; Barohn, Richard J; McVey, April; Pasnoor, Mamatha; Dimachkie, Mazen M; Rowin, Julie; Kissel, John; Freimer, Miriam; Kaminski, Henry J; Sanders, Donald B; Lipscomb, Bernadette; Massey, Janice M; Chopra, Manisha; Howard, James F Jr; Koopman, Wilma J; Nicolle, Michael W; Pascuzzi, Robert M; Pestronk, Alan; Wulf, Charlie; Florence, Julaine; Blackmore, Derrick; Soloway, Aimee; Siddiqi, Zaeem; Muppidi, Srikanth; Wolfe, Gil; Richman, David; Mezei, Michelle M; Jiwa, Theresa; Oger, Joel; Drachman, Daniel B; Traynor, Bryan J

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

在一个大家族中,一种新的ACTA1基因突变与显性进行性肩胛腓骨肌病相关

Zukosky, Kristen; Meilleur, Katherine; Traynor, Bryan J; Dastgir, Jahannaz; Medne, Livija; Devoto, Marcella; Collins, James; Rooney, Jachinta; Zou, Yaqun; Yang, Michele L; Gibbs, J Raphael; Meier, Markus; Stetefeld, Joerg; Finkel, Richard S; Schessl, Joachim; Elman, Lauren; Felice, Kevin; Ferguson, Toby A; Ceyhan-Birsoy, Ozge; Beggs, Alan H; Tennekoon, Gihan; Johnson, Janel O; Bönnemann, Carsten G