Julia Mohr

Novel variants in the SOX11 gene: clinical description of seven new patients

Beatriz Schincariol-Manhe, Samira Spineli‐Silva, Nicole de Leeuw, Gabriela Roldão Correia‐Costa et autres

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Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

Társis Paiva Vieira, Beatriz Schincariol-Manhe, Samira Spineli‐Silva, Nicole de Leeuw et autres

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Case report: Life threatening hyponatremia in infants with urinary tract infections: two cases of type III pseudohypoaldosteronism and review of the literature

C. Garber Carl, Lars Dinkelbach, Julia Mohr, Ruy Perez et autres

We describe two female infants at the age of five and six months with urinary tract infections presenting with vomiting and reduced drinking behavior. On laboratory analysis, severe hyponatremia (106 mmol/L and 109 mmol/L) was seen with hyperkalemia and compensated metabolic acidosis. …

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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Andrea Accogli, Sheng‐Jia Lin, Mariasavina Severino, Sung-Hoon Kim et autres

Purpose Biallelic variants in TARS2 , encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype but with limited neuroradiological data and insufficient evidence for causality of the variants. Methods Exome or genome sequencing was …

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CIMT 2021: report on the 18th Annual Meeting of the Association for Cancer Immunotherapy

Arne Billmeier, Krutika Khinvasara, Franziska Lang, Julia Mohr et autres

After one year of absence, the 18th Annual Meeting of the Association for Cancer Immunotherapy (CIMT), Europe's cancer immunotherapy meeting, took place virtually from 10 to 12 May 2021. Over 850 academic and clinical professionals from 30 countries met to discuss the …

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mRNA-based therapies: Preclinical and clinical applications

Musga Qureischi, Julia Mohr, Estibaliz Arellano-Viera, Sarah E. Knudsen et autres

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“What I thought was so important isn’t really that important”: international perspectives on making meaning during the first wave of the COVID-19 pandemic

Irina L. G. Todorova, Liesemarie Albers, Nicole Aronson, Adriana Băban et autres

Background The global COVID-19 pandemic has had a significant impact on the physical and mental health of people everywhere. The aim of the study is to understand how people living in 15 countries around the globe experience an unexpected crisis which threatens …

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. S. Mendes et autres

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de …

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FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome

Milan Zimmermann, Stefanie Schuster, Sylvia Boesch, Georg-Christoph Korenke et autres

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α-Linolenic Acid-Rich Diet Influences Microbiota Composition and Villus Morphology of the Mouse Small Intestine

Hristo Todorov, Bettina Kollar, Franziska Bayer, Inês Brandão et autres

α-Linolenic acid (ALA) is well-known for its anti-inflammatory activity. In contrast, the influence of an ALA-rich diet on intestinal microbiota composition and its impact on small intestine morphology are not fully understood. In the current study, we kept adult C57BL/6J mice for …

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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Julien H. Park, Christiane Elpers, Janine Reunert, Michael L. McCormick et autres

Superoxide dismutase 1 (SOD1) is the principal cytoplasmic superoxide dismutase in humans and plays a major role in redox potential regulation. It catalyses the transformation of the superoxide anion (O2•-) into hydrogen peroxide. Heterozygous variants in SOD1 are a common cause of …

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Non‐invasive structure–function assessment of the liver by 2D time‐harmonic elastography and the dynamic Liver MAximum capacity (LiMAx) test

Niklas Heucke, Tilo Wuensch, Julia Mohr, Magnus Friedrich Kaffarnik et autres

Abstract Background and Aim Accurate assessment of structural and functional characteristics of the liver could improve the diagnosis and the clinical management of patients with chronic liver diseases. However, the structure–function relationship in the progression of chronic liver disease remains elusive. The …

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