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

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

PTPN1单倍体功能不全引起的自身炎症性脑病:病例系列

Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J H; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph A; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J; El-Daher, Marie-Thérèse; Lepelley, Alice

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

BRAT1相关疾病:97例患者的表型谱和表型-基因型相关性

Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette

Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine

一名患有 COVID-19 局灶性脑动脉病变的幼儿的临床症状有所改善,可能与动脉内注射尼莫地平有关。

Avital, Dekel; Peretz, Shlomi; Perlow, Eliauh; Konen, Osnat; Inbar, Edna; Bulkowstein, Yarden; Nahum, Elhanan; Aharoni, Sharon; Vig, Lital Cohen; Nevo, Yoram; Auriel, Eitan; Straussberg, Rachel

Rheumatic fever in a developed country - is it still relevant? A retrospective, 25 years follow-up

发达国家的风湿热——它仍然具有现实意义吗?一项回顾性研究,随访25年

Tal, Rotem; Hamad Saied, Mohamad; Zidani, Razi; Levinsky, Yoel; Straussberg, Rachel; Amir, Jacob; Amarilyo, Gil; Harel, Liora

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

复发性纯合EMC10移码变异与一种发育迟缓综合征相关,该综合征伴有不同程度的癫痫发作和畸形特征。

Shao, Diane D; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R Sean; Smith, Richard S; Majmundar, Amar J; Ameziane, Najim; Neil, Jennifer E; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S; Schlaeger, Thorsten M; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z; Rento, Lariza M; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2

THRA 耐药性的新机制:首个导致 THRA2 抑制功能增强的疾病相关变异

Paisdzior, Sarah; Knierim, Ellen; Kleinau, Gunnar; Biebermann, Heike; Krude, Heiko; Straussberg, Rachel; Schuelke, Markus

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

COL4A2基因缺失与三代可变表型相关:从胎儿期到成人期均有表现。

Hausman-Kedem, Moran; Ben-Sira, Liat; Kidron, Debora; Ben-Shachar, Shay; Straussberg, Rachel; Marom, Daphna; Ponger, Penina; Bar-Shira, Anat; Malinger, Gustavo; Fattal-Valevski, Aviva

Association of pediatric idiopathic intracranial hypertension with olfactory performance

儿童特发性颅内高压与嗅觉功能的关系

Muhlbauer Avni, Maya; Yosha-Orpaz, Naama; Konen, Osnat; Goldenberg-Cohen, Nitza; Straussberg, Rachel

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

与小头畸形、智力障碍和癫痫发作相关的双等位基因 ADARB1 变异

Tiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, Rivka Sukenik Halevy, Liam P Keegan, Ingo Helbig, Lina Basel-Salmon, Lior Cohen, Rachel Straussberg, Wendy K Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B Howell, Susan M White, John Christodoul

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

SCAF4基因变异会导致神经发育障碍,并与mRNA加工受损有关。

Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane