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

Spontaneous Remission in Hashimoto's Encephalopathy: A Report of a Rare Case

桥本脑病自发缓解:一例罕见病例报告

Hersi, Mohamed; Werar, Abdulahi; Guled, Mohamed; Ragge, Naima; Mohamed, Abdirahman; Issa, Mohamed; Ali, Abdirashid; Hamid, Kedir

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

锌指同源框 4 基因 (ZFHX4) 功能丧失是神经发育障碍的根本原因

Pérez Baca María Del Rocío, Palomares-Bralo María, Vanhooydonck Michiel, Hamerlinck Lisa, D'haene Eva, Leimbacher Sebastian, Jacobs Eva Z, De Cock Laurenz, D'haenens Erika, Dheedene Annelies, Malfait Zoë, Vantomme Lies, Silva Ananilia, Rooney Kathleen, Zhao Xiaonan, Saeidian Amir Hossein, Owen Nichole Marie, Santos-Simarro Fernando, Lleuger-Pujol Roser, García-Miñaúr Sixto, Losantos-García Itsaso, Menten Björn, Gestri Gaia, Ragge Nicola, Sadikovic Bekim, Bogaert Elke, Vleminckx Kris, Naert Thomas, Syx Delfien, Callewaert Bert, Vergult Sarah

AB040. Subclinical myasthenia gravis after thymectomy: a 20-year retrospective cohort study

AB040. 胸腺切除术后亚临床重症肌无力:一项20年回顾性队列研究

Balasubramanian, Meena; Dingemans, Alexander J M; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H; Burke, Katherine B; Fry, Andrew E; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S; Vincent, Marie; Isidor, Bertrand; Küry, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske; Marcuse, Florit; Hoeijmakers, Janneke; Abdul Hamid, Myrurgia; Romeo, Jamie; Maessen, Jos; Peeters, Stephanie; Damoiseaux, Jan; Martinez, Pilar; Hochstenbag, Monique; De Baets, Marc

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

GJA8相关发育性眼病:一项新的多中心研究揭示了突变热点和基因型-表型相关性

Merepa, Solomon S; Reis, Linda M; Damián, Alejandra; Bardakjian, Tanya; Schneider, Adele; Trujillo-Tiebas, María Jose; Ayuso, Carmen; Galarza, Laura Cortázar; Saez Villaverde, Raquel; Ortiz-Cabrera, Nelmar Valentina; Bax, Dorine A; Holt, Richard; Ceroni, Fabiola; Edery, Patrick; Grelet, Maude; Riccardi, Florence; Maillard, Lauriane; Costakos, Deborah; Plaisancié, Julie; Chassaing, Nicolas; Corton, Marta; Semina, Elena V; Ragge, Nicola K

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

对成纤维细胞生长因子14 (FGF14) 结构变异的分析揭示了早发性眼球震颤基因座NYS4和变异性共济失调的遗传基础。

Ceroni, Fabiola; Osborne, Daniel; Clokie, Samuel; Bax, Dorine A; Cassidy, Emma J; Dunn, Matt J; Harris, Christopher M; Self, Jay E; Ragge, Nicola K

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

临床和基因分析进一步阐明了ALDH1A3相关性无眼症和小眼症的表型谱。

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

更正:临床和基因分析进一步阐明了ALDH1A3相关性无眼症和小眼症的表型谱

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

TRAPPC11 相关肌营养不良症,伴有骨骼肌和脑中 α-肌营养不良聚糖的低糖基化

Pinki Munot, Nadine McCrea, Silvia Torelli, Adnan Manzur, Caroline Sewry, Darren Chambers, Lucy Feng, Pierpaolo Ala, Irina Zaharieva, Nicola Ragge, Helen Roper, Tamas Marton, Phil Cox, Miroslav P Milev, Wen-Chen Liang, Shinsuke Maruyama, Ichizo Nishino, Michael Sacher, Rahul Phadke, Francesco Munton

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

视叶小叶钙蛋白酶 CAPN15 的双等位基因变异与先天性眼部异常、耳聋和其他神经发育缺陷有关。

Zha, Congyao; Farah, Carole A; Holt, Richard J; Ceroni, Fabiola; Al-Abdi, Lama; Thuriot, Fanny; Khan, Arif O; Helaby, Rana; Lévesque, Sébastien; Alkuraya, Fowzan S; Kraus, Alison; Ragge, Nicola K; Sossin, Wayne S