Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study

Autor: Ercan, Ayse Bahar, Aronson, Melyssa, Fernandez, Nicholas R, Chang, Yuan, Levine, Adrian, Liu, Zhihui Amy, Negm, Logine, Edwards, Melissa, Bianchi, Vanessa, Stengs, Lucie, Chung, Jiil, Al-Battashi, Abeer, Reschke, Agnes, Lion, Alex, Ahmad, Alia, Lassaletta, Alvaro, Reddy, Alyssa T, Al-Darraji, Amir F, Shah, Amish C, Van Damme, An, Bendel, Anne, Rashid, Aqeela, Margol, Ashley S, Kelly, Bethany L, Pencheva, Bojana, Heald, Brandie, Lemieux-Anglin, Brianna, Crooks, Bruce, Koschmann, Carl, Gilpin, Catherine, Porter, Christopher C, Gass, David, Samuel, David, Ziegler, David S, Blumenthal, Deborah T, Kuo, Dennis John, Hamideh, Dima, Basel, Donald, Khuong-Quang, Dong-Anh, Stearns, Duncan, Opocher, Enrico, Carceller, Fernando, Baris Feldman, Hagit, Toledano, Helen, Winer, Ira, Scheers, Isabelle, Fedorakova, Ivana, Su, Jack M, Vengoechea, Jaime, Sterba, Jaroslav, Knipstein, Jeffrey, Hansford, Jordan R, Gonzales-Santos, Julieta Rita, Bhatia, Kanika, Bielamowicz, Kevin J, Minhas, Khurram, Nichols, Kim E, Cole, Kristina A, Penney, Lynette, Hjort, Magnus Aasved, Sabel, Magnus, Gil-da-Costa, Maria Joao, Murray, Matthew J, Miller, Matthew, Blundell, Maude L, Massimino, Maura, Al-Hussaini, Maysa, Al-Jadiry, Mazin F, Comito, Melanie A, Osborn, Michael, Link, Michael P, Zapotocky, Michal, Ghalibafian, Mithra, Shaheen, Najma, Mushtaq, Naureen, Waespe, Nicolas, Hijiya, Nobuko, Fuentes-Bolanos, Noemi, Ahmad, Olfat, Chamdine, Omar, Roy, Paromita, Pichurin, Pavel N, Nyman, Per, Pearlman, Rachel, Auer, Rebecca C, Sukumaran, Reghu K, Kebudi, Rejin, Dvir, Rina, Raphael, Robert, Elhasid, Ronit, McGee, Rose B, Chami, Rose, Noss, Ryan, Tanaka, Ryuma, Raskin, Salmo, Sen, Santanu, Lindhorst, Scott, Perreault, Sebastien, Caspi, Shani, Riaz, Shazia, Constantini, Shlomi, Albert, Sophie, Chaleff, Stanley, Bielack, Stefan, Chiaravalli, Stefano, Cramer, Stuart Louis, Roy, Sumita, Cahn, Suzanne, Penna, Suzanne, Hamid, Syed Ahmer, Ghafoor, Tariq, Imam, Uzma, Larouche, Valerie, Magimairajan Issai, Vanan, Foulkes, William D, Lee, Yi Yen, Nathan, Paul C, Maruvka, Yosef E, Greer, Mary-Louise C, Durno, Carol, Shlien, Adam, Ertl-Wagner, Birgit, Villani, Anita, Malkin, David, Hawkins, Cynthia, Bouffet, Eric, Das, Anirban, Tabori, Uri ^*

Publikováno v: In The Lancet Oncology May 2024 25(5):668-682

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Global Presence and Penetrance of CSF1R-Related Disorder.

Autor: Dulski, Jaroslaw, Baker, Matthew, Banks, Samantha A., Bayat, Michael, Bruffaerts, Rose, Cruz, Gabriela Ortiz, Disserol, Caio C., Fisher, Kristen S., Jose, Jainy N., Kalman, Bernadette, Kantarci, Orhun H., Maltsev, Dmytro, Middleton, Catherine, Novotni, Gabriela, Plaseska-Karanfilska, Dijana, Raskin, Salmo, Souza, Josiane, Teive, Helio A., Wszolek, Zbigniew K.

Publikováno v: Neurology: Genetics; Oct2024, Vol. 10 Issue 5, p1-6, 6p

Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients

Autor: Meira, Alex Tiburtino, Arruda, Walter Oleschko, Ono, Sergio Eiji, Franklin, Gustavo Leite, de Carvalho Neto, Arnolfo, Raskin, Salmo, Ashizawa, Tetsuo, Camargo, Carlos Henrique F., Teive, Hélio A.G.

Publikováno v: In Parkinsonism and Related Disorders September 2020 78:73-78

Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families

Autor: Nascimento, Fábio A., Rodrigues, Vinícius O.R., Pelloso, Fernando C., Camargo, Carlos Henrique Ferreira, Moro, Adriana, Raskin, Salmo, Ashizawa, Tetsuo, Teive, Hélio Afonso Ghizoni

Publikováno v: In Clinical Neurology and Neurosurgery September 2019 184