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

Nurse-Led Family Support Intervention for Families of Critically Ill Patients: The FICUS Cluster Randomized Clinical Trial

护士主导的危重症患者家属家庭支持干预:FICUS 集群随机临床试验

Naef, Rahel; Jeitziner, Marie-Madlen; Riguzzi, Marco; von Felten, Stefanie; Verweij, Lotte; Rufer, Michael; Safford, Judith; Sutter, Simone; Bergmann-Kipfer, Bettina; Betschart, Ursula; Boltshauser, Sabina; Brülisauer, Nadine; Brunner, Christoph; Bühler, Philipp Karl; Burkhalter, Hanna; Dullenkopf, Alexander; Heise, Antje; Hertler, Benjamin; Hoffmann, Johanna Elisabeth; Karde, Carmen; Keller, Yvonne; Kohler, Susanne; Lussmann, Fabienne; Massarotto, Paola; Moser, Michaela; Pietsch, Urs; Segalada, Diana Livia; Siegrist, Esther; Steiger, Peter; Ruch, Naira; von Dach, Christoph; Wenzler, Monique Seraina; Wiegand, Jan; Zante, Bjoern; Filipovic, Miodrag

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

通过外显子组数据重新分析检测到的致病性隐匿变异显著提高了Joubert综合征的诊断率。

D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

由HK1单等位基因变异引起的神经发育障碍的临床、神经影像学和代谢特征

Wortmann, Saskia B; Feichtinger, Rene G; Abela, Lucia; van Gemert, Loes A; Aubart, Mélodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stühn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Mühlhausen, Chris; Rio, Marlène; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B; Syrbe, Steffen; Zylicz, Stas A; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A; Wevers, Ron A; Boltshauser, Eugen; Willemsen, Michel A

Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex

结节性硬化症确诊患儿小脑萎缩/体积减少的发生率和特征

Mertiri, Livja; Boltshauser, Eugen; Kralik, Stephen F; Desai, Nilesh K; Lequin, Maarten H; Huisman, Thierry A G M

Teaching NeuroImage: ROBO3 Mutation Causing Horizontal Gaze Palsy and Brainstem Malformation

神经影像教学:ROBO3基因突变导致水平凝视麻痹和脑干畸形

Chanda, Geetha; Reddy, Nihaal; Konanki, Ramesh; Boltshauser, Eugen; Lingappa, Lokesh

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation

延髓被盖发育不良:一种独特的脑干畸形的胎儿期和出生后表现

Gafner, M; Garel, C; Leibovitz, Z; Valence, S; Krajden Haratz, K; Oegema, R; Mancini, G M S; Heron, D; Bueltmann, E; Burglen, L; Rodriguez, D; Huisman, T A G M; Lequin, M H; Arad, A; Kidron, D; Muqary, M; Gindes, L; Lev, D; Boltshauser, E; Lerman-Sagie, T

Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis

伴有脑干受累的丹迪-沃克表型:预后不同的两个亚组

Alves, C A P F; Sidpra, J; Manteghinejad, A; Sudhakar, S; Massey, F V; Aldinger, K A; Haldipur, P; Lucato, L T; Ferraciolli, S F; Teixeira, S R; Öztekin, Ö; Bhattacharya, D; Taranath, A; Prabhu, S P; Mirsky, D M; Andronikou, S; Millen, K J; Barkovich, A J; Boltshauser, E; Dobyns, W B; Barkovich, M J; Whitehead, M T; Mankad, K

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

复发性、创始性及次等位基因变异构成了 Joubert 综合征的遗传格局

Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fische

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

先天性眼动失用症Cogan型的遗传谱:一项观察性研究(续)

Schröder, Simone; Yigit, Gökhan; Li, Yun; Altmüller, Janine; Büttel, Hans-Martin; Fiedler, Barbara; Kretzschmar, Christoph; Nürnberg, Peter; Seeger, Jürgen; Serpieri, Valentina; Valente, Enza Maria; Wollnik, Bernd; Boltshauser, Eugen; Brockmann, Knut

A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia

一名患有婴儿期发病型小脑共济失调的个体携带NPTX1基因的新生错义变异

Schöggl, Johanna; Siegert, Sandy; Boltshauser, Eugen; Freilinger, Michael; Schmidt, Wolfgang M