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1. A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity NSTL国家科技图书文献中心

Fahmy, Nagia | Mueller, Kathrin ... - 《Journal of neurology》 - 2023,270(3) - 1770～1773 - 共4页 - 被引量：2

摘要：BackgroundThe dose-effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet sca...

关键词： SOD1 | Homozygous | Novel mutation | Young-onset | Enzyme activity

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2. Probing the chemical complexity of tires: Identification of potential tire-borne water contaminants with high-resolution mass spectrometry SCIE Web of Science核心 EI 工程索引 NSTL国家科技图书文献中心

Mueller, Kathrin | Huebner, Daniel ... - 《Science of the Total Environment》 - 2022,802 - 共9页 - 被引量：45

摘要：Tire wear particles are not only the type of polymer particles most prevalent in the environment but also act as source of various organic micropollutants, many of which are likely still unknown. We e...

关键词： N | N '-diphenylguanidine (DPG) | N-(1 | 3-dimethylbutyl)-N '-phenyl-p-phenylenediamine (6-PPD) | Reaction products | PMT/vPvM substances | Suspect and nontarget screening | Tire and road wear particles (TRWP) | WEAR PARTICLES | ORGANIC-CHEMICALS...

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3. Methylome analysis of ALS patients and presymptomatic mutation carriers in blood cells SCIE Web of Science核心 NSTL国家科技图书文献中心

Ruf, Wolfgang P. | Hannon, Eilis ... - 《Neurobiology of Aging: Experimental and Clinical Research》 - 2022,116 - 16～24 - 共9页 - 被引量：7

摘要：Amyotrophic lateral sclerosis (ALS) is a fatal motoneuron disease with a monogenic cause in approximately 10% of cases. However, familial clustering of disease without inheritance in a Mendelian manne...

关键词： Amyotrophic lateral sclerosis (ALS) | Methylome | Epigenetics | Peripheral blood | Presymptomatic mutation carriers | C9ORF72 | DISCOVERY | DISEASE

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4. Biophysical and structural investigation of the regulation of human GTP cyclohydrolase I by its regulatory protein GFRP SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Ebenhoch, Rebecca | Bauer, Margit ... - 《Journal of Structural Biology》 - 2021,213(1) - 共10页 - 被引量：2

摘要：GTP Cyclohydrolase I (GCH1) catalyses the conversion of guanosine triphosphate (GTP) to dihydroneopterin triphosphate (H2NTP), the initiating step in the biosynthesis of tetrahydrobiopterin (BH4). BH4...

关键词： GCH1-GFRP complex | Allosteric regulation | Molecular glue | SPR | X-ray crystallography

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5. Eye movement alterations in presymptomatic C9orf72 expansion gene carriers SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Behler, Anna | Knehr, Antje ... - 《Journal of neurology》 - 2021,268(9) - 3390～3399 - 共10页 - 被引量：7

摘要：Objective The clinical manifestation of amyotrophic lateral sclerosis (ALS) is characterized by motor neuron degeneration, whereas frontotemporal dementia (FTD) patients show alterations of behavior a...

关键词： Amyotrophic lateral sclerosis | C9orf72 | Saccades | Cognition | Presymptomatic gene carriers

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6. Matrix effects in the analysis of polar organic water contaminants with HILIC-ESI-MS SCOPUS Scopus数据库 EI 工程索引 SCIE Web of Science核心 NSTL国家科技图书文献中心

Mueller, Kathrin | Zahn, Daniel ... - 《Analytical and bioanalytical chemistry》 - 2020,412(20) - 4867～4879 - 共13页 - 被引量：15

摘要：Matrix effects have been shown to be very pronounced and highly variable in the analysis of mobile chemicals, which may severely exacerbate accurate quantification. These matrix effects, however, are ...

关键词： Matrix effects | HILIC | Electrospray ionisation | PMT substances | PMOC | Post-column infusion | Inorganic ions

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7. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Yilmaz, Ruestem | Mueller, Kathrin ... - 《Neurobiology of Aging: Experimental and Clinical Research》 - 2020,87 - 共7页 - 被引量：10

摘要：Several studies reported amyotrophic lateral sclerosis (ALS)-linked mutations in TBK1, OPTN, VCP, UBQLN2, and SQSTM1 genes encoding proteins involved in autophagy. SQSTM1 was originally identified by ...

关键词： Motor neuron disease | ALS | SQSTM1 | p62

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8. Analysis of CACNA1A CAG repeat lengths in patients with familial ALS SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Brenner, David | Mueller, Kathrin ... - 《Neurobiology of Aging: Experimental and Clinical Research》 - 2019,74 - 235.e5～235.e8 - 共4页 - 被引量：3

摘要：Intermediate-length ATXN2 CAG repeats are a risk factor for amyotrophic lateral sclerosis (ALS). Here we report on a female patient with heterozygous repeat expansion mutation in the CACNA1A gene pres...

关键词： ALS | SCA6 | CACNA1A | CAG repeat expansion | Whole exome sequencing

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9. Ruthenium Oxide Nanosheets for Enhanced Oxygen Evolution Catalysis in Acidic Medium EI 工程索引 SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Laha, Sourav | Lee, Yonghyuk ... - 《Advanced energy materials》 - 2019,9(15) - 1803795.1～1803795.8 - 共8页 - 被引量：136

摘要：The fabrication of highly active and robust hexagonal ruthenium oxide nanosheets for the electrocatalytic oxygen evolution reaction (OER) in an acidic environment is reported. The ruthenate nanosheets...

关键词： DFT calculations | electrocatalysis | exfoliation | nanosheets | OER mechanism | oxygen evolution reaction | water splitting

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10. The initiation of cannabis use in adolescence is predicted by sex-specific psychosocial and neurobiological features SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Spechler, Philip A. | Allgaier, Nicholas ... - 《The European Journal of Neuroscience》 - 2019,50(3/4) - 2346～2356 - 共11页 - 被引量：21

摘要：Cannabis use initiated during adolescence might precipitate negative consequences in adulthood. Thus, predicting adolescent cannabis use prior to any exposure will inform the aetiology of substance ab...

关键词： marijuana | neuroimaging | prediction | specificity

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