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

Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class

内层视网膜变薄对 OPA1 常染色体显性遗传性视神经萎缩患者视觉功能的影响及其与年龄和基因变异类型的关联

Schrittwieser, Johannes; Reitner, Andreas; Kircher, Karl; Bertich, Martin; Stapf, Christoph; Lilja, Stephanie V; Paquay, Amina; Reiter, Gregor S; Bittner, Reginald E; Schmidt, Wolfgang M; Pemp, Berthold

Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome

携带 NAA10 错义变异 p.(L126R)、p.(L126V) 或 p.(F128L) 的女性个体表现出表型变异,这些变异会导致 NAA10 相关综合征。

Bühler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E; Lyon, Gholson J; Kustermann, Monika

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

双等位基因功能丧失的 P4HTM 基因变异会导致肌张力低下、通气不足、智力障碍、自主神经功能障碍、癫痫和眼部异常(HIDEA 综合征)。

Rahikkala, Elisa; Myllykoski, Matti; Hinttala, Reetta; Vieira, Päivi; Nayebzadeh, Naemeh; Weiss, Simone; Plomp, Astrid S; Bittner, Reginald E; Kurki, Mitja I; Kuismin, Outi; Lewis, Andrea M; Väisänen, Marja-Leena; Kokkonen, Hannaleena; Westermann, Jonne; Bernert, Günther; Tuominen, Hannu; Palotie, Aarno; Aaltonen, Lauri; Yang, Yaping; Potocki, Lorraine; Moilanen, Jukka; van Koningsbruggen, Silvana; Wang, Xia; Schmidt, Wolfgang M; Koivunen, Peppi; Uusimaa, Johanna

Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency

一名患有脂蛋白-1缺乏症的25岁女性的长期预后

Stepien, Karolina M; Schmidt, Wolfgang M; Bittner, Reginald E; O'Toole, Orna; McNamara, Brian; Treacy, Eileen P

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation

SYNE1基因纯合突变导致先天性肌无力伴远端关节挛缩:基因型-表型相关性

Baumann, Matthias; Steichen-Gersdorf, Elisabeth; Krabichler, Birgit; Petersen, Britt-Sabina; Weber, Ulrike; Schmidt, Wolfgang M; Zschocke, Johannes; Müller, Thomas; Bittner, Reginald E; Janecke, Andreas R

Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart

心肌细胞中L型钙通道电流增强会扰乱营养不良心脏的电生理功能。

Koenig, Xaver; Rubi, Lena; Obermair, Gerald J; Cervenka, Rene; Dang, Xuan B; Lukacs, Peter; Kummer, Stefan; Bittner, Reginald E; Kubista, Helmut; Todt, Hannes; Hilber, Karlheinz

Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart

营养不良心脏中,电压门控离子通道功能障碍先于心肌病的发展。

Koenig, Xaver; Dysek, Sandra; Kimbacher, Stefanie; Mike, Agnes K; Cervenka, Rene; Lukacs, Peter; Nagl, Katrin; Dang, Xuan B; Todt, Hannes; Bittner, Reginald E; Hilber, Karlheinz

Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice

糖基化缺陷型Large(myd)小鼠神经肌肉接头发育异常

Herbst, Ruth; Iskratsch, Thomas; Unger, Ewald; Bittner, Reginald E

Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

编码氨基末端激酶样蛋白的Scyl1基因突变会导致一种隐性遗传的脊髓小脑性神经退行性疾病。

Schmidt, Wolfgang M; Kraus, Cornelia; Höger, Harald; Hochmeister, Sonja; Oberndorfer, Felicitas; Branka, Manuela; Bingemann, Sonja; Lassmann, Hans; Müller, Markus; Macedo-Souza, Lúcia Inês; Vainzof, Mariz; Zatz, Mayana; Reis, André; Bittner, Reginald E