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

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency

人类和鼠类遗传性醚脂质缺乏症的心脏病理学重叠和独特特征

Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer, Wedad Fallatah, Mireia Perera-Gonzalez, Ouafa Hamza, Theresa König, Michael B Bober, Tiscar Cavallé-Garrido, Nancy E Braverman, Sonja Forss-Petter, Christian Pifl, Jan Bauer, Reginald E Bittner, Thomas H

Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome

与肌营养不良症和癌症有关的蛋白质是着丝粒的功能成分

Lilli Winter, Monika Kustermann, Büsra Ernhofer, Harald Höger, Reginald E Bittner, Wolfgang M Schmidt

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

SCYL1 破坏性突变是一种以反复发作的肝功能衰竭、周围神经病变、小脑萎缩和共济失调为特征的综合征的病因

Wolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, Benjamin Mayerhofer, Stephan Züchner, Eugen Boltshauser, Reginald E Bittner

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

FKBP14 基因突变会导致 Ehlers-Danlos 综合征,并伴有进行性脊柱后侧凸、肌病和听力丧失

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma Beatriz Romero, Robert Yves Carlier, Albert Amberger, Andrea Deutschmann, 

Targeted disruption of Hspa4 gene leads to cardiac hypertrophy and fibrosis

靶向破坏 Hspa4 基因可导致心脏肥大和纤维化

Belal A Mohamed, Amal Z Barakat, Wolfram-Hubertus Zimmermann, Reginald E Bittner, Christian Mühlfeld, Mark Hünlich, Wolfgang Engel, Lars S Maier, Ibrahim M Adham

DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies

肌营养不良症中的 DNA 损伤、体细胞非整倍体和恶性肉瘤易感性

Wolfgang M Schmidt, Mohammed H Uddin, Sandra Dysek, Karin Moser-Thier, Christine Pirker, Harald Höger, Inge M Ambros, Peter F Ambros, Walter Berger, Reginald E Bittner