Výsledky vyhledávání - "Christoph, Hotzy"

Akademický článek

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

Autor: Sara Silvaieh, Theresa König, Raphael Wurm, Tandis Parvizi, Evelyn Berger-Sieczkowski, Stella Goeschl, Christoph Hotzy, Matias Wagner, Riccardo Berutti, Esther Sammler, Elisabeth Stögmann, Alexander Zimprich

Publikováno v: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)

Abstract Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different types of dementia, whole-exome sequencing (WES) has emerged as an appropriate screening method

Externí odkaz: https://doaj.org/article/76666448bcd54393948ec0c31d2656c0

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Akademický článek

Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson’s disease

Publikováno v: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-4 (2023)

Abstract Elevated urine bis(monoacylglycerol)phosphate (BMP) levels have been found in gain-of-kinase function LRRK2 G2019S mutation carriers. Here, we have expanded urine BMP analysis to other Parkinson’s disease (PD) associated mutations and foun

Externí odkaz: https://doaj.org/article/48b4e1d519164c9ca1e0284e3c294d10

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Akademický článek

C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients

Autor: Theresa König, Raphael Wurm, Tandis Parvizi, Sara Silvaieh, Christoph Hotzy, Hakan Cetin, Sigrid Klotz, Ellen Gelpi, Christian Bancher, Thomas Benke, Peter Dal-Bianco, Michaela Defrancesco, Peter Fischer, Josef Marksteiner, Hedwig Sutterlüty, Gerhard Ransmayr, Reinhold Schmidt, Alexander Zimprich, Elisabeth Stögmann

Publikováno v: Neurobiology of Disease, Vol 175, Iss , Pp 105927- (2022)

Background: C9orf72 repeat expansions have been observed in a wide variety of neurodegenerative disorders. The cut-off between normal and pathogenic alleles is not well established as repeat sizing methods are often semi-quantitative. However, interm

Externí odkaz: https://doaj.org/article/b33e5952807e41e09a340163a888807d

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Akademický článek

The urinary microbiome shows different bacterial genera in renal transplant recipients and non-transplant patients at time of acute kidney injury – a pilot study

Autor: Daniela Gerges-Knafl, Pichler Peter, Alexander Zimprich, Christoph Hotzy, Wolfgang Barousch, Rita M. Lang, Elisabeth Lobmeyr, Sabina Baumgartner-Parzer, Ludwig Wagner, Wolfgang Winnicki

Publikováno v: BMC Nephrology, Vol 21, Iss 1, Pp 1-10 (2020)

Abstract Background In the past urine was considered sterile. Through the introduction of next generation sequencing, it has become clear that a urinary microbiome exists. Acute kidney injury (AKI) represents a major threat to kidney transplant recip

Externí odkaz: https://doaj.org/article/9f662b55795343c2aae5dd2e9a761b1a

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Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes

Autor: Martin Krenn, Christoph Hotzy, Thomas Meitinger, Bettina Lorenz-Depiereux, Theresa Brunet, Fritz Zimprich, Matias Wagner, Elisabeth Stögmann, Elisabeth Graf, Sandrina Weber, Ekaterina Pataraia, Gregor Kasprian, Tim M. Strom, Susanne Aull-Watschinger, Alexander Zimprich

Publikováno v: Journal of Medical Genetics. 57:624-633

BackgroundThe genetic architecture of non-acquired focal epilepsies (NAFEs) becomes increasingly unravelled using genome-wide sequencing datasets. However, it remains to be determined how this emerging knowledge can be translated into a diagnostic se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a86c876ec355fdc2ca7a7c060444b8c
https://doi.org/10.1136/jmedgenet-2019-106658

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The urinary microbiome shows different bacterial genera in renal transplant recipients and non-transplant patients at time of acute kidney injury – a pilot study

Autor: Christoph Hotzy, Rita M. Lang, Wolfgang Barousch, Alexander Zimprich, Wolfgang Winnicki, Sabina Baumgartner-Parzer, Daniela Gerges-Knafl, Ludwig Wagner, Elisabeth Lobmeyr, Peter Pichler

Publikováno v: BMC Nephrology
BMC Nephrology, Vol 21, Iss 1, Pp 1-10 (2020)

BackgroundIn the past urine was considered sterile. Through the introduction of next generation sequencing, it has become clear that a urinary microbiome exists. Acute kidney injury (AKI) represents a major threat to kidney transplant recipients. Rem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a19f281ccea656970e82e805a85a406
http://europepmc.org/articles/PMC7133001

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Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

Autor: Fritz Zimprich, Christoph Hotzy, Tobias B. Haack, Matias Wagner, Gudrun Zulehner, Martin Krenn, Alexander Zimprich, Elisabeth Stögmann, T. M. Strom, Jakob Rath

Publikováno v: European Journal of Neurology. 24:741-747

Background and purpose Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7691d824183e0e8980b67b5ac9ae553b
https://doi.org/10.1111/ene.13279

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