Ohlenbusch相关文献与解析，生知库 | 链接生命科学的每一步

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation

汉堡亚历山大脑白质营养不良队列研究描述——对实用分类和护理状况的见解

doi:10.3390/jcm14196918

Kokaly, Nadia; Guerreiro, Helena; Bredow, Janna; Dreha-Kulaczewski, Steffi; Ohlenbusch, Andreas; Köhler, Wolfgang; Reinhardt, Tabea; Schön, Gerhard; Volk, Alexander E; Sigel, Helen; Bley, Annette

神经科学

发表日期：2025

文献求助收藏

A novel remitting leukodystrophy associated with a variant in FBP2

与 FBP2 变异相关的新型缓释性白质营养不良

期刊:Brain Communications

影响因子:4.1

doi:10.1093/braincomms/fcab036

Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, Janusz Wiśniewski, Przemysław Duda, Andreas Ohlenbusch, Brenda Huppke, Marco Henneke, Wolfgang Höhne, Janine Altmüller, Holger Thiele, Peter Nürnberg, Dariusz Rakus, Jutta Gärtner, Peter Huppke

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

苏尔噻胺在体外会损害线粒体功能，并可能诱发莱伯遗传性视神经病变患者的视力丧失。

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-021-01690-y

Reinert, Marie-Christine; Pacheu-Grau, David; Catarino, Claudia B; Klopstock, Thomas; Ohlenbusch, Andreas; Schittkowski, Michael; Wilichowski, Ekkehard; Rehling, Peter; Brockmann, Knut

线粒体

发表日期：2021

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Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

儿童交替性偏瘫和快速发作性肌张力障碍-帕金森病 ATP1A3 突变的比较分析揭示了功能缺陷，但与疾病严重程度无关

期刊:Neurobiology of Disease

影响因子:5.1

doi:10.1016/j.nbd.2020.105012

Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A Pardo, Marlene U Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

早产儿出现严重的新生儿多重硫酸酯酶缺乏症，并伴有胎儿水肿

期刊:JIMD Reports

影响因子:1.8

doi:10.1002/jmd2.12074

Schlotawa, Lars; Dierks, Thomas; Christoph, Sophie; Cloppenburg, Eva; Ohlenbusch, Andreas; Korenke, G Christoph; Gärtner, Jutta

发表日期：2019

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Murine breast cancer feed arteries are thin-walled with reduced α(1A)-adrenoceptor expression and attenuated sympathetic vasocontraction

小鼠乳腺癌供血动脉壁薄，α(1A)-肾上腺素能受体表达降低，交感神经血管收缩减弱。

期刊:Breast Cancer Research

影响因子:5.6

doi:10.1186/s13058-018-0952-8

Froelunde, Anne Sofie; Ohlenbusch, Marit; Hansen, Kristoffer B; Jessen, Nicolai; Kim, Sukhan; Boedtkjer, Ebbe

Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia

组织蛋白酶D多态性C224T与儿童期发病的神经退行性疾病：对儿童痴呆症无影响

期刊:Journal of Pediatric Genetics

影响因子:0.4

doi:10.1055/s-0037-1607341

Kettwig, Matthias; Ohlenbusch, Andreas; Jung, Klaus; Steinfeld, Robert; Gärtner, Jutta

神经科学

发表日期：2018

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The Learning Objective Catalogue for Patient Safety in Undergraduate Medical Education--A Position Statement of the Committee for Patient Safety and Error Management of the German Association for Medical Education

本科医学教育中患者安全学习目标目录——德国医学教育协会患者安全与差错管理委员会立场声明

期刊:

影响因子:

doi:10.3205/zma001009

Kiesewetter, Jan; Gutmann, Johanna; Drossard, Sabine; Gurrea Salas, David; Prodinger, Wolfgang; Mc Dermott, Fiona; Urban, Bert; Staender, Sven; Baschnegger, Heiko; Hoffmann, Gordon; Hübsch, Grit; Scholz, Christoph; Meier, Anke; Wegscheider, Mirko; Hoffmann, Nicolas; Ohlenbusch-Harke, Theda; Keil, Stephanie; Schirlo, Christian; Kühne-Eversmann, Lisa; Heitzmann, Nicole; Busemann, Alexandra; Koechel, Ansgar; Manser, Tanja; Welbergen, Lena; Kiesewetter, Isabel

发表日期：2016

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Clinical utility gene card for: Zellweger syndrome spectrum

临床实用基因卡适用于：泽尔维格综合征谱系

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/ejhg.2014.250

Rosewich, Hendrik; Waterham, Hans; Poll-The, Bwee Tien; Ohlenbusch, Andreas; Gärtner, Jutta

发表日期：2015

文献求助收藏

Well-being in German patients with vitiligo in genital and visible areas - a pilot study

德国生殖器及外阴部位白癜风患者的幸福感——一项初步研究

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation

汉堡亚历山大脑白质营养不良队列研究描述——对实用分类和护理状况的见解

A novel remitting leukodystrophy associated with a variant in FBP2

与 FBP2 变异相关的新型缓释性白质营养不良

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

苏尔噻胺在体外会损害线粒体功能，并可能诱发莱伯遗传性视神经病变患者的视力丧失。

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

儿童交替性偏瘫和快速发作性肌张力障碍-帕金森病 ATP1A3 突变的比较分析揭示了功能缺陷，但与疾病严重程度无关

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

早产儿出现严重的新生儿多重硫酸酯酶缺乏症，并伴有胎儿水肿

Murine breast cancer feed arteries are thin-walled with reduced α(1A)-adrenoceptor expression and attenuated sympathetic vasocontraction

小鼠乳腺癌供血动脉壁薄，α(1A)-肾上腺素能受体表达降低，交感神经血管收缩减弱。

Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia

组织蛋白酶D多态性C224T与儿童期发病的神经退行性疾病：对儿童痴呆症无影响

The Learning Objective Catalogue for Patient Safety in Undergraduate Medical Education--A Position Statement of the Committee for Patient Safety and Error Management of the German Association for Medical Education

本科医学教育中患者安全学习目标目录——德国医学教育协会患者安全与差错管理委员会立场声明

Clinical utility gene card for: Zellweger syndrome spectrum

临床实用基因卡适用于：泽尔维格综合征谱系