Metabolome-wide association study on ABCA7 indicates a role of ceramide metabolism in Alzheimer’s disease

por Dehghan, Abbas, Pinto, Rui Climaco, Karaman, Ibrahim, Huang, Jian, Durainayagam, Brenan R., Ghanbari, Mohsen, Nazeer, Areesha, Zhong, Qi, Liggi, Sonia, Whiley, Luke, Mustafa, Rima, Kivipelto, Miia, Solomon, Alina, Ngandu, Tiia, Kanekiyo, Takahisa, Aikawa, Tomonori, Radulescu, Carola I., Barnes, Samuel J., Graça, Gonçalo, Chekmeneva, Elena, Camuzeaux, Stephane, Lewis, Matthew R., Kaluarachchi, Manuja R., Ikram, M. Arfan, Holmes, Elaine, Tzoulaki, Ioanna, Matthews, Paul M., Griffin, Julian L., Elliott, Paul
Publicado 2022

Pharmacological targeting of the Wdr5-MLL interaction in C/EBPα N-terminal leukemia

por Grebien, Florian, Vedadi, Masoud, Getlik, Matthäus, Giambruno, Roberto, Grover, Amit, Avellino, Roberto, Skucha, Anna, Vittori, Sarah, Kuznetsova, Ekaterina, Smil, David, Barsyte-Lovejoy, Dalia, Li, Fengling, Poda, Gennadiy, Schapira, Matthieu, Wu, Hong, Dong, Aiping, Senisterra, Guillermo, Stukalov, Alexey, Huber, Kilian V. M., Schönegger, Andreas, Marcellus, Richard, Bilban, Martin, Bock, Christoph, Brown, Peter J., Zuber, Johannes, Bennett, Keiryn L., Al-awar, Rima, Delwel, Ruud, Nerlov, Claus, Arrowsmith, Cheryl H., Superti-Furga, Giulio
Publicado 2015

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

por Kingswood, John C., d’Augères, Guillaume B., Belousova, Elena, Ferreira, José C., Carter, Tom, Castellana, Ramon, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, de Vries, Petrus J., Feucht, Martha, Fladrowski, Carla, Gislimberti, Gabriella, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O’Callaghan, Finbar, Benedik, Mirjana P., Qin, Jiong, Marques, Ruben, Sander, Valentin, Sauter, Matthias, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.
Publicado 2017

Rapid, inexpensive, fingerstick, whole-blood, sensitive, specific, point-of-care test for anti-Toxoplasma antibodies

por Lykins, Joseph, Li, Xuan, Levigne, Pauline, Zhou, Ying, El Bissati, Kamal, Clouser, Fatima, Wallon, Martine, Morel, Florence, Leahy, Karen, El Mansouri, Bouchra, Siddiqui, Maryam, Leong, Nicole, Michalowski, Morgan, Irwin, Erin, Goodall, Perpetua, Ismail, Mahmoud, Christmas, Monica, Adlaoui, El Bachir, Rhajaoui, Mohamed, Barkat, Amina, Cong, Hua, Begeman, Ian J., Lai, Bo Shiun, Contopoulos-Ioannidis, Despina G., Montoya, Jose G., Maldonado, Yvonne, Ramirez, Raymund, Press, Cindy, Peyron, Francois, McLeod, Rima
Publicado 2018

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

por de Vries, Petrus J., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’Amato, Lisa, d’Augères, Guillaume B., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Kingswood, J. Chris, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.
Publicado 2018

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

por Nabbout, Rima, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D´Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna, Kingswood, John C.
Publicado 2018

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

por Kingswood, J Chris, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’ Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J, Ferreira, José C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C
Publicado 2019

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

por Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C.
Publicado 2019

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

por Marques, Ruben, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Jansen, Anna C.
Publicado 2019

The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases

por Marques, Ruben, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Nabbout, Rima
Publicado 2019

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

por de Vries, Petrus J., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Jansen, Anna C.
Publicado 2020

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

por Jansen, Anna C., Vanclooster, Stephanie, de Vries, Petrus J., Fladrowski, Carla, Beaure d'Augères, Guillaume, Carter, Tom, Belousova, Elena, Benedik, Mirjana P., Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Ferreira, José C., Feucht, Martha, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, J. Chris
Publicado 2020

Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

por Kingswood, J. Chris, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C., Sauter, Matthias
Publicado 2020

TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex

por Kingswood, J. Chris, Belousova, Elena, Benedik, Mirjana P., Budde, Klemens, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augères, Guillaume B., de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.
Publicado 2021

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

por Giardino, Giuliana, Sharapova, Svetlana O., Ciznar, Peter, Dhalla, Fatima, Maragliano, Luca, Radha Rama Devi, Akella, Islamoglu, Candan, Ikinciogullari, Aydan, Haskologlu, Sule, Dogu, Figen, Hanna-Wakim, Rima, Dbaibo, Ghassan, Chou, Janet, Cirillo, Emilia, Borzacchiello, Carla, Kreins, Alexandra Y., Worth, Austen, Rota, Ioanna A., Marques, José G., Sayitoglu, Muge, Firtina, Sinem, Mahdi, Moaffaq, Geha, Raif, Neven, Bénédicte, Sousa, Ana E., Benfenati, Fabio, Hollander, Georg A., Davies, E. Graham, Pignata, Claudio
Publicado 2021

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

por Sauter, Matthias, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’Amato, Lisa, d’Augères, Guillaume B., de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna, Kingswood, J. Chris
Publicado 2021

Omicron BA.2 lineage predominance in severe acute respiratory syndrome coronavirus 2 positive cases during the third wave in North India

por Zaman, Kamran, Shete, Anita M., Mishra, Shailendra Kumar, Kumar, Abhinendra, Reddy, Mahendra M., Sahay, Rima R., Yadav, Shailendra, Majumdar, Triparna, Pandey, Ashok K., Dwivedi, Gaurav Raj, Deval, Hirawati, Singh, Rajeev, Behera, Sthita Pragnya, Kumar, Niraj, Patil, Savita, Kumar, Ashish, Dudhmal, Manisha, Joshi, Yash, Shukla, Aishwarya, Gawande, Pranita, Kavathekar, Asif, Kumar, Nalin, Kumar, Vijay, Kumar, Kamlesh, Singh, Ravi Shankar, Kumar, Manoj, Tiwari, Shashikant, Verma, Ajay, Yadav, Pragya D., Kant, Rajni
Publicado 2022

A deep look into the storm: Israeli multi-center experience of coronavirus disease 2019 (COVID-19) in patients with autoimmune inflammatory rheumatic diseases before and after vacc...

por Kharouf, Fadi, Eviatar, Tali, Braun, Maya, Pokroy-Shapira, Elisheva, Brodavka, Michal, Zloof, Yair, Agmon-Levin, Nancy, Toledano, Kochava, Oren, Shirly, Lidar, Merav, Zisman, Devy, Tavor, Yonit, Amit-Vazina, Mirit, Sabbah, Firas, Breuer, Gabriel S., Dagan, Amir, Beshara-Garzuzi, Rima, Markovits, Doron, Elias, Muna, Feld, Joy, Tayer-Shifman, Oshrat, Gazitt, Tal, Reitblatt, Tatiana, Rubin, Limor, Haddad, Amir, Giryes, Sami, Paran, Daphna, Peleg, Hagit, Molad, Yair, Elkayam, Ori, Mevorach, Dror, Balbir-Gurman, Alexandra, Braun-Moscovici, Yolanda
Publicado 2023

Engineering a tunable micropattern‐array assay to sort single extracellular vesicles and particles to detect RNA and protein in situ

por Zhang, Jingjing, Rima, Xilal Y., Wang, Xinyu, Nguyen, Luong T. H., Huntoon, Kristin, Ma, Yifan, Palacio, Paola Loreto, Nguyen, Kim Truc, Albert, Karunya, Duong‐Thi, Minh‐Dao, Walters, Nicole, Kwak, Kwang Joo, Yoon, Min Jin, Li, Hong, Doon‐Ralls, Jacob, Hisey, Colin L., Lee, Daeyong, Wang, Yifan, Ha, Jonghoon, Scherler, Kelsey, Fallen, Shannon, Lee, Inyoul, Palmer, Andre F., Jiang, Wen, Magaña, Setty M., Wang, Kai, Kim, Betty Y. S., Lee, L. James, Reátegui, Eduardo
Publicado 2023

OR11-1 A Randomized Trial of Preconception Levothyroxine in Euthyroid Women with Thyroid Peroxidase Antibodies

por Dhillon-Smith, Rima, Middleton, Lee, Sunner, Kirandeep, Cheed, Versha, Baker, Krys, Farrell-Carver, Samantha, Bender-Atik, Ruth, Agrawal, Rina, Bhatia, Kalsang, Edi-Osagie, Edmond, Ghobara, Tarek, Gupta, Pratima, Jurkovic, Davor, Khalaf, Yacoub, MacLean, Marjory, McCabe, Christopher, Mulbagal, Khashia, Nunes, Natalie, Overton, Caroline, Quenby, Siobhan, Rai, Raj, Raine-Fenning, Nick, Robinson, Lynne, Ross, Jackie, Sizer, Andrew, Small, Rachel, Tan, Alex, Underwood, Martyn, Kilby, Mark, Boelaert, Kristien, Daniels, Jane, Thangaratinam, Shakila, Chan, Shiao, Coomarasamy, Arri
Publicado 2019