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

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

与运动障碍和共济失调相关的突变、基因和表型

Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Pa

[2006-2016: Ten years of immersion in the world of rare diseases]

【2006-2016:十年投身罕见病领域】

García Ribes, Miguel

German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings

德国在常规情况下采用ICD-10-GM和Orpha编号对罕见病进行编码的方法

De Filippi, Paola; Saeidi, Kolsoum; Ravaglia, Sabrina; Dardis, Andrea; Angelini, Corrado; Mongini, Tiziana; Morandi, Lucia; Moggio, Maurizio; Di Muzio, Antonio; Filosto, Massimiliano; Bembi, Bruno; Giannini, Fabio; Marrosu, Giovanni; Rigoldi, Miriam; Tonin, Paola; Servidei, Serenella; Siciliano, Gabriele; Carlucci, Annalisa; Scotti, Claudia; Comelli, Mario; Toscano, Antonio; Danesino, Cesare; Iskrov, Georgi; Houÿez, François; Taruscio, D; Morciano, C; Laricchiuta, P; Mincarone, P; Palazzo, F; Leo, CG; Sabina, S; Guarino, R; Auld, J; Sejersen, T; Gavhed, D; Ritchie, K; Hilton-Boon, M; Manson, J; Kanavos, PG; Tordrup, D; Tzouma, V; Le Cam, Y; Senecat, J; Filippini, G; Minozzi, S; Del Giovane, C; Schünemann, H; Meerpohl, JJ; Prediger, B; Schell, L; Stefanov, R; Iskrov, G; Miteva-Katrandzhieva, T; Serrano-Aguilar, P; Perestelo-Perez, L; Trujillo-Martín, MM; Pérez-Ramos, J; Rivero-Santana, A; Brand, A; van Kranen, H; Bushby, K; Atalaia, A; Ramet, J; Siderius, L; Posada, M; Abaitua-Borda, I; Ferreira, V Alonso; Hens-Pérez, M; Manzanares, FJ; Rath, Ana; Bellet, Bertrand; Olry, Annie; Gonthier, Catherine; Aymé, Ségolène; Mazzucato, Monica; Houyez, François; Facchin, Paola; Faucounneau, Véronique; Rath, Ana; Smedley, Damian; Kohler, Sebastian; Bone, William; Oellrich, Anika; Jacobsen, Jules; Wang, Kai; Mungall, Chris; Washington, Nicole; Bauer, Sebastian; Seelow, Dominic; Krawitz, Peter; Boerkel, Cornelius; Gilissen, Christian; Haendel, Melissa; Lewis, Suzanna E; Robinson, Peter N; Ostergaard, John R; van den Brink, Rinke; Tambuyzer, Erik T; Handelin, Barbara L; Basile, Richard A; Haffner, Marlene E; Münster, Tino; Evers, Pauline J; Hall, Anthony K; Sireau, Nicolas T; Bernardini, Claudia; Muscolo, Luisa AA; Siviero, Paolo D; Montilla, Simona; Pani, Luca; Houÿez, François; Tessier, Ludovic; Synodinos, Dimitrios; Dooms, Marc; Monaco, Lucia; Dan, Dorica; Castro, Raquel; Jessop, Edmund; Muscolo, Luisa AA; Bernardini, Claudia; Siviero, Paolo D; Montilla, Simona; Pani, Luca; Macchia, Flaminia; Hughes-Wilson, Wills; Pogany, Gabor; Holm, Birthe Byskov; Oliveira, Pedro; Zejnilovic, Leid; Canhão, Helena; von Hippel, Eric; Nourissier, Christel; de Chalendar, Myriam; Daniel, Marie; Olry, Annie; Rath, Ana; Choquet, Rémy; Landais, Paul; Winther, Ole; Svenstrup, Dan; Henningsen, Philip P; Kristiásson, Róbert; Jørgensen, Henrik L; Nicholl, Ciarán; Lemli, Annette; Schwarzer, Nicole; Sarnacki, S; de la Paz, M Posada; Alonso, V; Zurriaga, O; Astray, J; Aldana-Espinal, JM; Margolles, MJ; Jiménez, J; Palomar, JA; Santana, M; Ramalle-Gomarra, E; Ramos, JM; Arribas, FE; Álamo, R; Gutiérrez-Ávila, G; Galmés, A; Ribes, M García; Navarro, C; Errezola, M; Ardanaz, ME; Almansa, A; Garcia-Primo, P; Carroquino, MJ; Abaitua, I; Schneider, Holm; Schneider, Pascal; Krieg, Peter; Dang, AnhThu; Huttner, Kenneth; Hermes, Katharina; Castro, Raquel; Dan, Dorica; Muscholl, Marita; Lablans, Martin; Wagner, Thomas OF; Ückert, Frank; Storf, Holger; Hartz, Tobias; Pfeiffer, Wulf; Rommel, Kathrin; Derks, Mareike; Nyoungui, Elisabeth; Schmidtke, Joerg; Graessner, Holm; Knoell, Mirjam; Wagner, Thomas; Ueckert, Frank; Trae, Gro; Lablans, Martin; Kadioglu, Dennis; Muscholl, Marita; Ückert, Frank; Coi, Alessio; Santoro, Michele; Lipucci, Michele; Bianucci, Anna Maria; Gainotti, Sabina; Mollo, Emanuela; Vittozzi, Luciano; Taruscio, Domenica; Bianchi, Fabrizio; Rodwell, Charlotte; Aymé, Ségolène; McCormack, Pauline; Kole, Anna; Alonso, Verónica; Abaitua, Ignacio; Zurriaga, Óscar; Astray, Jenaro; Errezola, Manuel; Aldana-Espinal, Josefa M; Margolles, Mario J; Jiménez, Josep; Palomar, Joaquín A; Santana, Milagrosa; Ramalle-Gomarra, Enrique; Ramos, Julián M; Arribas, Federico E; Álamo, Rufino; Gutiérrez-Ávila, Gonzalo; Galmés, Antònia; García-Ribes, Miguel; Navarro, Carmen; Ardanaz, Eva; de la Paz, Manuel Posada; Wood, Libby; Evangelista, Teresinha; Norwood, Fiona; Orrell, Richard; Pohlschmidt, Marita; Busby, Mark; Graham, Andrew; Hilton-Jones, David; Longman, Cheryl; Lunt, Peter; Roberts, Mark; Watt, Stuart; Watt, Suzanne; Willis, Tracey; Lochmüller, Hanns; Vives Corrons, J L; Mañú Pereira, M; Olaya, L; Wood, Jill; Siedman, Stuart; Siedman, Jennifer; Levy, Paul; Brown, Kyle; McBride, Kim; Flanigan, Kevin; Marques, Raquel; Feldman, Arleta; PleHcha, Robert; Ekins, Sean; Menzel, Olivier; Weber, Stefanie; Dávila, Magdalena

[Is there a place in primary care for rare diseases? The case of fibrodysplasia ossificans progressiva]

【罕见病在基层医疗中是否有立足之地?以进行性骨化性纤维发育不良为例】

Morales-Piga, Antonio; García Ribes, Miguel; Arribas Álvaro, Pilar; Casado Álvaro, Carlos; Posada de La Paz, Manuel; Bachiller-Corral, Javier

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

CDKL5基因状态在患有癫痫和Rett综合征样特征的女性患者中发现:催化结构域的两个新突变

Maortua, Hiart; Martínez-Bouzas, Cristina; Calvo, María-Teresa; Domingo, Maria-Rosario; Ramos, Feliciano; García-Ribes, Ainhoa; Martínez, María-Jesús; López-Aríztegui, María-Asunción; Puente, Nerea; Rubio, Izaskun; Tejada, María-Isabel

[Epidemiology concepts: current situation and future perspectives]

【流行病学概念:现状与展望】

Posada de la Paz, Manuel; García Ribes, Miguel

[Sjögren syndrome]

[干燥综合征]

Sorlí, José V; Doménech, Ismael Ejarque; Zurián, F J Valderrama; Gutiérrez, Vicente Martín; Castillo, Mercedes Mingarro; García-Ribes, Miguel; Uriarte, Ramón Ortiz

[Friedreich's ataxia]

[弗里德赖希氏共济失调症]

Ortiz Uriarte, Ramón; García Ribes, Miguel; Gutiérrez, V Martín; Sorlí, José V; Valderrama Zurián, Francisco Javier; Mingarro Castillo, María Mercedes; Ejarque Domènech, Ismael

[Marfan's syndrome]

[马凡氏综合征]

Valderrama Zurián, Francisco Javier; Martín Gutiérrez, V; Sorlí, J V; Mingarro Castillo, M; Ejarque Doménech, I; Ortiz Uriarte, R; García Ribes, M

[The role of primary care in hereditary cancer]

【初级保健在遗传性癌症中的作用】

Ejarque, Ismael; García-Ribes, Miguel; Sorlí, José Vicente; Arenas, Estíbaliz; Martín, Vicente