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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

巴西关于杜氏肌营养不良症的共识建议更新

Araujo, Alexandra Prufer de Queiroz Campos; Saute, Jonas Alex Morales; Fortes, Clarisse Pereira Dias Drumond; França, Marcondes Cavalcante Jr; Pereira, Jaqueline Almeida; Albuquerque, Marco Antonio Veloso de; Carvalho, Alzira Alves de Siqueira; Cavalcanti, Eduardo Boiteux Uchôa; Covaleski, Anna Paula Paranhos Miranda; Fagondes, Simone Chaves; Gurgel-Giannetti, Juliana; Gonçalves, Marcus Vinicius Magno; Martinez, Alberto Rolim Muro; Coimbra Neto, Antônio Rodrigues; Neves, Flavio Reis; Nucci, Anamarli; Nucera, Ana Paula Cassetta Dos Santos; Pessoa, Andre Luis Santos; Rebel, Marcos Ferreira; Santos, Flavia Nardes Dos; Scola, Rosana Herminia; Sobreira, Cláudia Ferreira da Rosa

A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant

由 ANXA11 错义变异引起的新型多系统蛋白病

Tauana Bernardes Leoni, Carelis González-Salazar, Thiago Junqueira R Rezende, Ana Luisa C Hernández, Alexandre Hilário B Mattos, Antônio Rodrigues Coimbra Neto, Felipe Franco da Graça, João Pedro Nunes Gonçalves, Alberto R M Martinez, Lucas Taniguti, João Paulo Kitajima, Fernando Kok, Fábio Rogério,

Clinical and molecular findings in a cohort of ANO5-related myopathy

ANO5相关肌病队列的临床和分子研究结果

Silva, André M S; Coimbra-Neto, Antônio R; Souza, Paulo Victor S; Winckler, Pablo B; Gonçalves, Marcus V M; Cavalcanti, Eduardo B U; Carvalho, Alzira A D S; Sobreira, Cláudia F D R; Camelo, Clara G; Mendonça, Rodrigo D H; Estephan, Eduardo D P; Reed, Umbertina C; Machado-Costa, Marcela C; Dourado-Junior, Mario E T; Pereira, Vanessa C; Cruzeiro, Marcelo M; Helito, Paulo V P; Aivazoglou, Laís U; Camargo, Leonardo V D; Gomes, Hudson H; Camargo, Amaro J S D; Pinto, Wladimir B V D R; Badia, Bruno M L; Libardi, Luiz H; Yanagiura, Mario T; Oliveira, Acary S B; Nucci, Anamarli; Saute, Jonas A M; França-Junior, Marcondes C; Zanoteli, Edmar

Male systemic lupus erythematosus, an overlooked diagnosis

男性系统性红斑狼疮:一种被忽视的诊断

do Socorro Teixeira Moreira Almeida, Maria; da Costa Arcoverde, Josué; Barros Jacobino, Mário Nicolau; Coimbra Neto, Antônio Rodrigues