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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

THU036 (68)Ga-DOTATOC PET/CT In Localization Of ACTH-producing Pituitary Tumors In Patients With Cushing Disease

THU036 (68)Ga-DOTATOC PET/CT 在库欣病患者 ACTH 分泌性垂体肿瘤定位中的应用

Hinojosa-Amaya, José Miguel; Johnson, Nathaniel; González-Torres, Christina; Varlamov, Elena V; Yedinak, Christine G; McCartney, Shirley; Fleseriu, Maria; Kim, Kyungwon

Predictors of sleep pattern disturbances. Results from a third-level university hospital

睡眠模式紊乱的预测因素:来自一家三级大学医院的研究结果

Dávila-Sotelo, Elisa; Hinojosa-Amaya, Leonor; Garza-Davila, Carolina; Botello-Hernández, Edgar; Garcia-Espinosa, Patricio

Recent Understanding and Future Directions of Recurrent Corticotroph Tumors

复发性促肾上腺皮质激素瘤的最新认识和未来研究方向

Hinojosa-Amaya, José Miguel; Lam-Chung, César Ernesto; Cuevas-Ramos, Daniel

MON-277 Patient Health Questionnaire 9 (PHQ-9) and Barrat Impulsivity Scale (BIS-11); Tools to Identify Side Effects of Dopamine Agonist Treatment in Patients with Pituitary Adenomas

MON-277 患者健康问卷 9 (PHQ-9) 和 Barrat 冲动性量表 (BIS-11);用于识别垂体腺瘤患者多巴胺激动剂治疗副作用的工具

Yau, Mabel; Rapaport, Robert; Garibaldi, Luigi R; Gurtunca, Nursen; March, Christine; Escobar, Oscar; Baldauff, Natalie Marie Hecht; Vu, Bach-Mai Katherine; Morsi, Amr; McPhaul, Michael John; Dichtel, Laura E; Haines, Melanie S; Kimball, Allison; Rao, Elizabeth M; Bollinger, Bryan; Gerweck, Anu V; Husseini, Jad; Simon, Tracey G; Corey, Kathleen E; Bredella, Miriam A; Miller, Karen Klahr; Hinojosa-Amaya, José Miguel; Johnson, Nathaniel; Varlamov, Elena V; González-Torres, Christine; Yedinak, Christina G; McCartney, Shirley; Fleseriu, Maria

SUN-298 Spectrum of Imaging in Immune Checkpoint Inhibitor Induced Hypophysitis

SUN-298 免疫检查点抑制剂诱导的垂体炎的成像光谱

Pittau, Francesca; Ferri, Lorenzo; Fahoum, Firas; Dubeau, François; Gotman, Jean; Chaudry, I; Vargs, J; Turk, A; Tuner, R; la Garza, Carlos De; Shastri, Ravi; Raad, Zoe; Esper, Layal; Reyes, Nicolas; Chen, Ana; Zachariah, Stephen; Wong, Beatrice; Owusu, Emmanuel; Levitt, Alex; Todor, Roxanne; Kishore, Preeti; Varlamov, Elena V; Hinojosa-Amaya, José Miguel; Ting, Dawn Lim Shao; Fleseriu, Maria; Prola, Joao; Quandt, Zoe; Kim, Stephanie; Villanueva-Meyer, Javier; Coupe, Catherine; Tyrrell, J Blake; Bluestone, Jeffery A; Anderson, Mark Stuart; Masharani, Umesh

SUN-303 Effects of Open-Label, Adjunctive Ganaxalone Treatment on Resistant Depression in Postmenopausal Women: A Pilot Study

SUN-303 开放标签辅助加那沙酮治疗对绝经后女性难治性抑郁症的影响:一项初步研究

Kim, Chae-Yong; Kim, Seung-Ki; Kawaji, Leslie Daphne R; Villanueva, Mary Grace M; Villa, Michael L; Lerario, Antonio Marcondes; Meredith, David; Castlen, Joseph; Johnson, Lauren M; Catalino, Michael; Carroll, Rona S; Pallais, J Carl; Kaiser, Ursula B; Bi, Wenya Linda; Laws, Edward Raymond; Abreu, Ana Paula; Varlamov, Elena V; Hinojosa-Amaya, José Miguel; Ting, Dawn Lim Shao; Fleseriu, Maria; Prola, Joao; Deligiannis, Natalia Gabriela; Sosa, Soledad; Gonzalez, Diego; Ibar, Carolina; Jacobsen, Dario Gustavo; Fabre, Bibiana; Danilowicz, Karina; Donegan, Diane; Algeciras-Schimnich, Alicia; Erickson, Dana Z; Olsson, Daniel S; Granfeldt, Daniel; Björstad, Åse; Ribeiro-Oliveira, Antonio; Jonasson, Anna; Whalen, John D; Jensen, Elizabeth Ann; Jackson, Zachary; Young, Jonathan Alan; Kuhn, Jaycie; Onusko, Maria; Carroll, Ronan K; List, Edward Owen; Murphy, Erin R; Kopchick, John Joseph; Berryman, Darlene E; Miles, Tiffany K; Allensworth, Melody Lyn; Moreira, Ana Rita Silva; Odle, Angela Katherine; Haney, Anessa; Lagasse, Alexandra; MacNicol, Angus M; Childs, Gwen V; Dimitrova, Diana A; Abdullin, Evgeniy T; Przhiyalkovskaya, Elena G; Yu. Grigoriev, Andrey; Azizyan, Vilen N; Lapshina, Anastasia M; Ye. Belaya, Zhanna; Melnichenko, Galina A; Jalil, Fatima; De La Portilla, Lori; Lorenzo, Joseph Anthony; Mirza, Faryal Sardar; Halem, Heather A; Hochgeschwender, Ute; Thiagalingam, Arunthi; Culler, Michael D; Nosova, Emily V; Bederson, Joshua B; Cheesman, Khadeen Christi; Samson, Susan Leanne; Nachtigall, Lisa B; Fleseriu, Maria; Gordon, Murray B; Jensterle, Mojca; Elenkova, Atanaska; Ludlam, William Henry; Patou, Gary; Haviv, Asi; Biermasz, Nienke; Trainer, Peter James; Strasburger, Christian Joseph; Kennedy, Laurence; Melmed, Shlomo; Wang, Fang; Catalino, Michael; Bi, W Linda; Dunn, Ian; Smith, Timothy; Guo, Yunlei; Kaiser, Ursula B; Laws, Edward Raymond; Min, Le; Arshad, Muhammad Fahad; Kaluarachchi, Vidumini; Iqbal, Ahmed; Munir, Alia; Newell-Price, John D C; Nachtigall, Lisa B; Samson, Susan Leanne; Fleseriu, Maria; Bolanowski, Marek; Ludlam, William Henry; Patou, Gary; Haviv, Asi; Manning, Patrick; Biermasz, Nienke; Giustina, Andrea; Strasburger, Christian Joseph; Melmed, Shlomo; Kennedy, Laurence; El-Zein, Louna S; Abushanab, Dania; Chaker, Bayan; Slack, Daniel; Brooks, Danielle; Levine, Alice C; Fernandes, Stuti; Varlamov, Elena V; Stack, Madeleine; Johnson, Nathaniel; Cetas, Justin S; Dogan, Aclan; Yedinak, Christine G; Fleseriu, Maria; Roelfsema, Ferdinand; Liu, Peter Y; Yang, Rebecca; Takahashi, Paul; Veldhuis, Johannes D; Reyes-Vidal, Carlos; Page-Wilson, Gabrielle; Bruce, Jeffrey N; Post, Kalmon D; Hickman, Richard; Panigrahi, Sunil Kumar; Jin, Zhezhen; Khandji, Alexander; White, Anne; Wardlaw, Sharon L; Freda, Pamela; Nagireddi, Rama Priyanka; Win, Htet Htet; Wagstaff, Sarah; Neal, Moira; Friedman, Kathryn; Anderson, Robert J; Brooks, Emily K; Bachmeier, Caroline; Vorster, Juanita; Sorbello, Jane; Peer, Faseeha C; Chikani, Viral P; Dimeski, Goce; Ungerer, Jacobus; Pretorius, Carel; Inder, Warrick John; Hernández-Ramírez, Laura C; Pankratz, Nathan; Lane, John; Faucz, Fabio R; Chittiboina, Prashant; Denise, Kay M; Mills, James L; Stratakis, Constantine A; ElEbrashy, Shady Ibrahim; ElRefaay, Ehab; Youssef, Farouq H; Santini, Alberto Javier Grana; Canales Ramos, Nicolle M; Burgos Ortega, Nydia I; Torres, Wilnelia Medina; Castellano, Janet Colón; Gonzalez-Rodriguez, Loida Alejandra; Alvarado, Milliette; Ramirez, Margarita; Hodge, MaKenzie; Ganta, Vijaya A; Nunlee-Bland, Gail Louise; Odonkor, Wolali Akua-Sabia; Zenebe, Anteneh Woldetensay; Folawewo, MbChB, Kehinde Matilda; Osman, Nada; shen, Angeline; Wang, Paul; De Sousa, Sunita M C; Torpy, David J; Scott, Hamish; King, James; Colman, Peter Grahame; Yates, Christopher James; Chiloiro, Sabrina; Giampietro, Antonella; Bianchi, Antonio; Visconti, Felicia; Formenti, Anna Maria; Cara, Fleseriu Maya; Pontecorvi, Alfredo; Fleseriu, Maria; Andrea, Giustina; De Marinis, Laura; Zacharieva, Sabina Z; Pivonello, Rosario; Elenkova, Atanaska; Tóth, Miklós; Shimon, Ilan; Stigliano, Antonio; Badiu, Corin P; Brue, Thierry; Georgescu, Carmen Emanuela; Cohen, Fredric J; Fleseriu, Maria; Benedetti, Anna Flavia Figueredo; Silva, Juliana M; Biscotto, Isabela Peixoto; Ferreira, Nathalia Pereira; Arnhold, Ivo J; Mendonca, Berenice Bilharinho; Carvalho, Luciani Renata Silveira; Gugger, Aristea Sideri; Stamatiades, George Alexiades; Majumdar, Sachin K; Quandt, Zoe; Kim, Stephanie; Villanueva-Meyer, Javier; Coupe, Catherine; Tyrrell, J Blake; Bluestone, Jeffery A; Anderson, Mark Stuart; Masharani, Umesh; de Almeida, Tobias Skrebsky; Salla, Rafaela Fenalti; Casagrande, Alessandra; Costenaro, Fabíola; Czepielewski, Mauro Antonio; Dichtel, Laura E; Nyer, Maren; Dording, Christina; Fisher, Lauren B; Cusin, Christin; Shapero, Benjamin G; Pedrelli, Paola; Kimball, Allison; Rao, Elizabeth M; Mischoulon, David; Fava, Maurizio; Miller, Karen Klahr

High Molecular Weight ACTH-Precursor Presence in a Metastatic Pancreatic Neuroendocrine Tumor Causing Severe Ectopic Cushing's Syndrome: A Case Report

转移性胰腺神经内分泌肿瘤中存在高分子量促肾上腺皮质激素前体导致严重异位库欣综合征:一例病例报告

Roopa Mehta, César Ernesto Lam-Chung, José Miguel Hinojosa-Amaya, Paola Roldán-Sarmiento, Maria Fernanda Guillen-Placencia, Gerladine Villanueva-Rodriguez, Oscar Alfredo Juarez-Leon, Jefsi Leon-Domínguez, Mariana Grajales-Gómez, Jose Luis Ventura-Gallegos, Andrés León-Suárez, Francisco J Gómez-Pérez