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

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

编码囊泡 AP-5 复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良

Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

Correction to: PHARC syndrome: an overview

更正:PHARC综合征:概述

Harutyunyan, Lusine; Callaerts, Patrick; Vermeer, Sascha

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

PHARC syndrome: an overview

PHARC综合征:概述

Harutyunyan, Lusine; Callaerts, Patrick; Vermeer, Sascha

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216

RNF216 引起的严重神经内分泌疾病的首发表现:促性腺激素低下性性腺功能减退症

Rochtus, Anne; Asscherickx, Willeke; Timmers, Marijke; Vermeer, Sascha; Antonio, Leen

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

RNF170基因突变会导致常染色体显性遗传的感觉性共济失调,并伴有不同程度的锥体束受累。

Van Daele, Sien H; Moisse, Matthieu; Race, Valérie; Van Eesbeeck, Amélie; Keldermans, Liesbeth; Vermeer, Sascha; Van Esch, Hilde; Claeys, Kristl G; Van Damme, Philip

Case Report: An Unusual Course of Angiosarcoma After Lung Transplantation

病例报告:肺移植后血管肉瘤的罕见病程

Bos, Saskia; Daniëls, Liesbeth; Michaux, Lucienne; Vanden Bempt, Isabelle; Vermeer, Sascha; Woei-A-Jin, F J Sherida H; Schöffski, Patrick; Weynand, Birgit; Sciot, Raf; Declercq, Sabine; Ceulemans, Laurens J; Godinas, Laurent; Verleden, Geert M; Van Raemdonck, Dirk E; Dupont, Lieven J; Vos, Robin

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

对小脑共济失调和痉挛性截瘫进行临床外显子组测序,揭示了新的基因-疾病关联和意想不到的罕见疾病。

van de Warrenburg, Bart P; Schouten, Meyke I; de Bot, Susanne T; Vermeer, Sascha; Meijer, Rowdy; Pennings, Maartje; Gilissen, Christian; Willemsen, Michèl Aap; Scheffer, Hans; Kamsteeg, Erik-Jan

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

Drp1介导的裂变减少会损害沙勒沃伊-萨格奈常染色体隐性痉挛性共济失调患者的线粒体健康。

Bradshaw, Teisha Y; Romano, Lisa E L; Duncan, Emma J; Nethisinghe, Suran; Abeti, Rosella; Michael, Gregory J; Giunti, Paola; Vermeer, Sascha; Chapple, J Paul